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    ASPH aspartate beta-hydroxylase [ Homo sapiens (human) ]

    Gene ID: 444, updated on 27-Nov-2024

    Summary

    Official Symbol
    ASPHprovided by HGNC
    Official Full Name
    aspartate beta-hydroxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:757
    See related
    Ensembl:ENSG00000198363 MIM:600582; AllianceGenome:HGNC:757
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAH; BAH; HAAH; JCTN; FDLAB; junctin; CASQ2BP1
    Summary
    This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
    Expression
    Broad expression in fat (RPKM 85.5), adrenal (RPKM 27.8) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASPH in Genome Data Viewer
    Location:
    8q12.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (61500556..61714592, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (61924301..62138323, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (62413115..62627151, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene clavesin 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62185690-62186311 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62186312-62186932 Neighboring gene nucleophosmin 1 pseudogene 6 Neighboring gene uncharacterized LOC105375870 Neighboring gene NANOG hESC enhancer GRCh37_chr8:62279520-62280036 Neighboring gene NANOG hESC enhancer GRCh37_chr8:62335334-62335851 Neighboring gene Sharpr-MPRA regulatory region 11405 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:62392811-62393004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27447 Neighboring gene keratin 8 pseudogene 3 Neighboring gene RN7SK pseudogene 97 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19236 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:62634171-62635370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19237 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:62672336-62673535 Neighboring gene HNF1 motif-containing MPRA enhancer 71 Neighboring gene microRNA 4470 Neighboring gene uncharacterized LOC105375871 Neighboring gene long intergenic non-protein coding RNA 2842

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ASPH; predicted interaction to be within the endoplasmic reticulum PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables peptidyl-aspartic acid 3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transmembrane transporter binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of store-operated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of calcium ion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pattern specification process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of calcium ion transport into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell communication by electrical coupling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of protein depolymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein stability IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to ATP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    aspartyl/asparaginyl beta-hydroxylase
    Names
    A beta H-J-J
    ASP beta-hydroxylase
    cardiac junctin
    humbug
    junctate
    peptide-aspartate beta-dioxygenase
    NP_001158222.1
    NP_001158223.1
    NP_001158224.1
    NP_001158225.1
    NP_001158226.1
    NP_001158227.1
    NP_001158228.1
    NP_001400773.1
    NP_001400774.1
    NP_001400775.1
    NP_001400776.1
    NP_001400777.1
    NP_001400778.1
    NP_001400779.1
    NP_001400780.1
    NP_001400781.1
    NP_001400782.1
    NP_001400783.1
    NP_001400784.1
    NP_001400785.1
    NP_001400786.1
    NP_001400787.1
    NP_001400788.1
    NP_001400789.1
    NP_001400790.1
    NP_001400791.1
    NP_001400792.1
    NP_001400793.1
    NP_001400794.1
    NP_001400795.1
    NP_001400796.1
    NP_001400797.1
    NP_001400798.1
    NP_001400799.1
    NP_001400800.1
    NP_001400801.1
    NP_001400802.1
    NP_001400803.1
    NP_001400804.1
    NP_001400805.1
    NP_001400806.1
    NP_001400807.1
    NP_001400808.1
    NP_001400809.1
    NP_001400810.1
    NP_001400811.1
    NP_001400812.1
    NP_001400813.1
    NP_001400814.1
    NP_001400815.1
    NP_001400816.1
    NP_001400817.1
    NP_001400818.1
    NP_001400819.1
    NP_001400820.1
    NP_001400822.1
    NP_001400823.1
    NP_001400824.1
    NP_001400825.1
    NP_001400826.1
    NP_001400827.1
    NP_001400828.1
    NP_001400829.1
    NP_001400830.1
    NP_001400831.1
    NP_001400832.1
    NP_001400833.1
    NP_001400834.1
    NP_001400835.1
    NP_001400836.1
    NP_001400837.1
    NP_001400838.1
    NP_004309.2
    NP_064549.1
    NP_115855.1
    NP_115856.1
    NP_115857.1
    XP_005251301.1
    XP_016868908.1
    XP_016868909.1
    XP_016868915.1
    XP_016868916.1
    XP_016868919.1
    XP_016868920.1
    XP_016868924.1
    XP_016868928.1
    XP_016868929.1
    XP_016868933.1
    XP_024302925.1
    XP_024302926.1
    XP_024302927.1
    XP_047277747.1
    XP_047277748.1
    XP_047277749.1
    XP_054216456.1
    XP_054216457.1
    XP_054216458.1
    XP_054216459.1
    XP_054216460.1
    XP_054216461.1
    XP_054216462.1
    XP_054216463.1
    XP_054216464.1
    XP_054216465.1
    XP_054216466.1
    XP_054216467.1
    XP_054216468.1
    XP_054216469.1
    XP_054216470.1
    XP_054216471.1
    XP_054216472.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013210.1 RefSeqGene

      Range
      5049..219085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164750.2NP_001158222.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus, compared to isoform a. This isoform includes the beta-hydroxylase domain found in isoform a and is likely to have catalytic activity.
      Source sequence(s)
      AC090094, AF339775, AK304314, BC025236, DN993915, S83325
      Consensus CDS
      CCDS55234.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000437864.1, ENST00000541428.5
      Conserved Domains (5) summary
      TIGR02795
      Location:313426
      tol_pal_ybgF; tol-pal system protein YbgF
      pfam05279
      Location:14281
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:429453
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:562715
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:316355
      TPR_14; Tetratricopeptide repeat
    2. NM_001164751.2NP_001158223.1  aspartyl/asparaginyl beta-hydroxylase isoform 7

      See identical proteins and their annotated locations for NP_001158223.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (g) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
      Source sequence(s)
      AC067881, BC144362, BU623111, DN993915
      Consensus CDS
      CCDS55236.1
      UniProtKB/TrEMBL
      E5RG56
      Related
      ENSP00000430245.1, ENST00000517903.5
      Conserved Domains (1) summary
      pfam05279
      Location:14295
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    3. NM_001164752.2NP_001158224.1  aspartyl/asparaginyl beta-hydroxylase isoform 8

      See identical proteins and their annotated locations for NP_001158224.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon, lacks an alternate in-frame exon, and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (h) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
      Source sequence(s)
      AC067881, BC144363, BU623111, DN993915
      UniProtKB/TrEMBL
      B4DQ07, B7ZM96
      Conserved Domains (1) summary
      pfam05279
      Location:14276
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    4. NM_001164753.2NP_001158225.1  aspartyl/asparaginyl beta-hydroxylase isoform 9

      See identical proteins and their annotated locations for NP_001158225.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (i) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
      Source sequence(s)
      AC067881, AK295528, BU623111, DN993915
      Consensus CDS
      CCDS55235.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000429160.1, ENST00000522835.5
      Conserved Domains (1) summary
      pfam05279
      Location:14253
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    5. NM_001164754.2NP_001158226.1  aspartyl/asparaginyl beta-hydroxylase isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (j) lacks an internal segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC067881, AK298577, BU623111, DA136318
      Consensus CDS
      CCDS75746.1
      UniProtKB/TrEMBL
      Q6PJH4
      Related
      ENSP00000394013.4, ENST00000445642.6
      Conserved Domains (1) summary
      pfam05279
      Location:43291
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    6. NM_001164755.2NP_001158227.1  aspartyl/asparaginyl beta-hydroxylase isoform 11

      See identical proteins and their annotated locations for NP_001158227.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (k) lacks an internal segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC067881, BC025236, BU623111
      Consensus CDS
      CCDS55237.1
      UniProtKB/TrEMBL
      A8K721
      Related
      ENSP00000429286.1, ENST00000518068.5
      Conserved Domains (1) summary
      pfam05279
      Location:43267
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    7. NM_001164756.2NP_001158228.1  aspartyl/asparaginyl beta-hydroxylase isoform 12

      See identical proteins and their annotated locations for NP_001158228.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) includes an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (l) includes an alternate segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC066929, BU741737, DA136318
      Consensus CDS
      CCDS55238.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000368762.5, ENST00000379449.11
      Conserved Domains (1) summary
      pfam05279
      Location:43146
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    8. NM_001413844.1NP_001400773.1  aspartyl/asparaginyl beta-hydroxylase isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    9. NM_001413845.1NP_001400774.1  aspartyl/asparaginyl beta-hydroxylase isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    10. NM_001413846.1NP_001400775.1  aspartyl/asparaginyl beta-hydroxylase isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    11. NM_001413847.1NP_001400776.1  aspartyl/asparaginyl beta-hydroxylase isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    12. NM_001413848.1NP_001400777.1  aspartyl/asparaginyl beta-hydroxylase isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    13. NM_001413849.1NP_001400778.1  aspartyl/asparaginyl beta-hydroxylase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    14. NM_001413850.1NP_001400779.1  aspartyl/asparaginyl beta-hydroxylase isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    15. NM_001413851.1NP_001400780.1  aspartyl/asparaginyl beta-hydroxylase isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    16. NM_001413852.1NP_001400781.1  aspartyl/asparaginyl beta-hydroxylase isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    17. NM_001413853.1NP_001400782.1  aspartyl/asparaginyl beta-hydroxylase isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    18. NM_001413854.1NP_001400783.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    19. NM_001413855.1NP_001400784.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    20. NM_001413856.1NP_001400785.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    21. NM_001413857.1NP_001400786.1  aspartyl/asparaginyl beta-hydroxylase isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    22. NM_001413858.1NP_001400787.1  aspartyl/asparaginyl beta-hydroxylase isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    23. NM_001413859.1NP_001400788.1  aspartyl/asparaginyl beta-hydroxylase isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    24. NM_001413860.1NP_001400789.1  aspartyl/asparaginyl beta-hydroxylase isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    25. NM_001413861.1NP_001400790.1  aspartyl/asparaginyl beta-hydroxylase isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    26. NM_001413862.1NP_001400791.1  aspartyl/asparaginyl beta-hydroxylase isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    27. NM_001413863.1NP_001400792.1  aspartyl/asparaginyl beta-hydroxylase isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    28. NM_001413864.1NP_001400793.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    29. NM_001413865.1NP_001400794.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    30. NM_001413866.1NP_001400795.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    31. NM_001413867.1NP_001400796.1  aspartyl/asparaginyl beta-hydroxylase isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    32. NM_001413868.1NP_001400797.1  aspartyl/asparaginyl beta-hydroxylase isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    33. NM_001413869.1NP_001400798.1  aspartyl/asparaginyl beta-hydroxylase isoform 29

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    34. NM_001413870.1NP_001400799.1  aspartyl/asparaginyl beta-hydroxylase isoform 30

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    35. NM_001413871.1NP_001400800.1  aspartyl/asparaginyl beta-hydroxylase isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    36. NM_001413872.1NP_001400801.1  aspartyl/asparaginyl beta-hydroxylase isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    37. NM_001413873.1NP_001400802.1  aspartyl/asparaginyl beta-hydroxylase isoform 32

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    38. NM_001413874.1NP_001400803.1  aspartyl/asparaginyl beta-hydroxylase isoform 33

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    39. NM_001413875.1NP_001400804.1  aspartyl/asparaginyl beta-hydroxylase isoform 34

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    40. NM_001413876.1NP_001400805.1  aspartyl/asparaginyl beta-hydroxylase isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    41. NM_001413877.1NP_001400806.1  aspartyl/asparaginyl beta-hydroxylase isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    42. NM_001413878.1NP_001400807.1  aspartyl/asparaginyl beta-hydroxylase isoform 36

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    43. NM_001413879.1NP_001400808.1  aspartyl/asparaginyl beta-hydroxylase isoform 37

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    44. NM_001413880.1NP_001400809.1  aspartyl/asparaginyl beta-hydroxylase isoform 38

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    45. NM_001413881.1NP_001400810.1  aspartyl/asparaginyl beta-hydroxylase isoform 39

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    46. NM_001413882.1NP_001400811.1  aspartyl/asparaginyl beta-hydroxylase isoform 40

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    47. NM_001413883.1NP_001400812.1  aspartyl/asparaginyl beta-hydroxylase isoform 41

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    48. NM_001413884.1NP_001400813.1  aspartyl/asparaginyl beta-hydroxylase isoform 42

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    49. NM_001413885.1NP_001400814.1  aspartyl/asparaginyl beta-hydroxylase isoform 43

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    50. NM_001413886.1NP_001400815.1  aspartyl/asparaginyl beta-hydroxylase isoform 44

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    51. NM_001413887.1NP_001400816.1  aspartyl/asparaginyl beta-hydroxylase isoform 44

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    52. NM_001413888.1NP_001400817.1  aspartyl/asparaginyl beta-hydroxylase isoform 45

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    53. NM_001413889.1NP_001400818.1  aspartyl/asparaginyl beta-hydroxylase isoform 46

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    54. NM_001413890.1NP_001400819.1  aspartyl/asparaginyl beta-hydroxylase isoform 47

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    55. NM_001413891.1NP_001400820.1  aspartyl/asparaginyl beta-hydroxylase isoform 48

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    56. NM_001413893.1NP_001400822.1  aspartyl/asparaginyl beta-hydroxylase isoform 49

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    57. NM_001413894.1NP_001400823.1  aspartyl/asparaginyl beta-hydroxylase isoform 50

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    58. NM_001413895.1NP_001400824.1  aspartyl/asparaginyl beta-hydroxylase isoform 51

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    59. NM_001413896.1NP_001400825.1  aspartyl/asparaginyl beta-hydroxylase isoform 52

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    60. NM_001413897.1NP_001400826.1  aspartyl/asparaginyl beta-hydroxylase isoform 53

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    61. NM_001413898.1NP_001400827.1  aspartyl/asparaginyl beta-hydroxylase isoform 54

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    62. NM_001413899.1NP_001400828.1  aspartyl/asparaginyl beta-hydroxylase isoform 55

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    63. NM_001413900.1NP_001400829.1  aspartyl/asparaginyl beta-hydroxylase isoform 56

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    64. NM_001413901.1NP_001400830.1  aspartyl/asparaginyl beta-hydroxylase isoform 58

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    65. NM_001413902.1NP_001400831.1  aspartyl/asparaginyl beta-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC067881
    66. NM_001413903.1NP_001400832.1  aspartyl/asparaginyl beta-hydroxylase isoform 59

      Status: REVIEWED

      Source sequence(s)
      AC067881
    67. NM_001413904.1NP_001400833.1  aspartyl/asparaginyl beta-hydroxylase isoform 60

      Status: REVIEWED

      Source sequence(s)
      AC067881
    68. NM_001413905.1NP_001400834.1  aspartyl/asparaginyl beta-hydroxylase isoform 61

      Status: REVIEWED

      Source sequence(s)
      AC067881
    69. NM_001413906.1NP_001400835.1  aspartyl/asparaginyl beta-hydroxylase isoform 62

      Status: REVIEWED

      Source sequence(s)
      AC067881
    70. NM_001413907.1NP_001400836.1  aspartyl/asparaginyl beta-hydroxylase isoform 63

      Status: REVIEWED

      Source sequence(s)
      AC067881
    71. NM_001413908.1NP_001400837.1  aspartyl/asparaginyl beta-hydroxylase isoform 64

      Status: REVIEWED

      Source sequence(s)
      AC067881
      Related
      ENSP00000427877.1, ENST00000518306.5
    72. NM_001413909.1NP_001400838.1  aspartyl/asparaginyl beta-hydroxylase isoform 57

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094
    73. NM_004318.4NP_004309.2  aspartyl/asparaginyl beta-hydroxylase isoform 1

      See identical proteins and their annotated locations for NP_004309.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform. The distinct C-terminus of this isoform has enzymatic activity which hydroxylates the beta carbon of aspartic acid or asparagine residues in certain epidermal growth factor-like domains of proteins such as protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
      Source sequence(s)
      AC067881, AC090094, S83325, U03109
      Consensus CDS
      CCDS34898.1
      UniProtKB/Swiss-Prot
      A0A0A0MSK8, A6NDF4, A6NHI2, B4DIC9, B4E2K4, B7ZM95, E5RGP5, F5H667, Q12797, Q6NXR7, Q8TB28, Q9H291, Q9H2C4, Q9NRI0, Q9NRI1, Q9Y4J0
      Related
      ENSP00000368767.4, ENST00000379454.9
      Conserved Domains (5) summary
      TIGR02795
      Location:342455
      tol_pal_ybgF; tol-pal system protein YbgF
      pfam05279
      Location:43310
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:458482
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:591744
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:345384
      TPR_14; Tetratricopeptide repeat
    74. NM_020164.5NP_064549.1  aspartyl/asparaginyl beta-hydroxylase isoform 5

      See identical proteins and their annotated locations for NP_064549.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, includes an alternate in-frame exon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (e) has a slightly shorter and distinct N-terminus and some overlap with the N-terminus of isoform a. This isoform lacks the catalytic domain and enzymatic function of isoform a. This isoform has also been referred to as junctin isoform 1 and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
      Source sequence(s)
      AC067881, AF224469, BX102882, DN993915
      Consensus CDS
      CCDS34900.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000373856.4, ENST00000389204.9
      Conserved Domains (1) summary
      pfam05279
      Location:14205
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    75. NM_032466.4NP_115855.1  aspartyl/asparaginyl beta-hydroxylase isoform 3

      See identical proteins and their annotated locations for NP_115855.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (c), also known as humbug, is identical to the N-terminal and central region of isoform a. Because this transcript variant lacks the alternative 3' terminal exon which encodes a catalytic domain for isoform a, isoform c is considered a noncatalytic isoform. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
      Source sequence(s)
      AC067881, AF289489, BC025236, BU623111
      Consensus CDS
      CCDS43742.1
      UniProtKB/TrEMBL
      A8K721
      Related
      ENSP00000348841.5, ENST00000356457.9
      Conserved Domains (1) summary
      pfam05279
      Location:43310
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    76. NM_032467.4NP_115856.1  aspartyl/asparaginyl beta-hydroxylase isoform 4

      See identical proteins and their annotated locations for NP_115856.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (d) has a slightly shorter and distinct N-terminus and some overlap with the N-terminus of isoform a, but lacks the catalytic domain and enzymatic function of isoform a. This isoform has also been referred to as junctin and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
      Source sequence(s)
      AC067881, AF224468, BX102882, DN993915
      Consensus CDS
      CCDS34899.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000436188.1, ENST00000522603.5
      Conserved Domains (1) summary
      pfam05279
      Location:14190
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    77. NM_032468.5NP_115857.1  aspartyl/asparaginyl beta-hydroxylase isoform 2

      See identical proteins and their annotated locations for NP_115857.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, includes an alternate in-frame exon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (b) shares residues with the central region of isoform a. This isoform lacks the catalytic domain and enzymatic function of isoform a. Isoform b has also been referred to as junctate and is located in both the endoplasmic and sarcoplasmic reticulum. Calcium binding properties of this isoform suggest an active role in the calcium storage and release process in the endoplasmic reticulum. This variant is expressed in heart, brain, pancreas, placenta, lung, liver, kidney, and skeletal muscle tissues.
      Source sequence(s)
      AC067881, AF306765, BU623111, DN993915
      Consensus CDS
      CCDS47866.1
      UniProtKB/TrEMBL
      E5RG56
      Related
      ENSP00000429954.2, ENST00000517847.7
      Conserved Domains (1) summary
      pfam05279
      Location:14296
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      61500556..61714592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013430.2XP_016868919.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

    2. XM_017013420.2XP_016868909.1  aspartyl/asparaginyl beta-hydroxylase isoform X2

    3. XM_017013419.2XP_016868908.1  aspartyl/asparaginyl beta-hydroxylase isoform X1

    4. XM_017013444.2XP_016868933.1  aspartyl/asparaginyl beta-hydroxylase isoform X12

    5. XM_047421791.1XP_047277747.1  aspartyl/asparaginyl beta-hydroxylase isoform X11

    6. XM_017013439.2XP_016868928.1  aspartyl/asparaginyl beta-hydroxylase isoform X8

    7. XM_017013431.2XP_016868920.1  aspartyl/asparaginyl beta-hydroxylase isoform X6

    8. XM_017013440.2XP_016868929.1  aspartyl/asparaginyl beta-hydroxylase isoform X9

    9. XM_005251244.2XP_005251301.1  aspartyl/asparaginyl beta-hydroxylase isoform X10

      Conserved Domains (5) summary
      TIGR02795
      Location:308421
      tol_pal_ybgF; tol-pal system protein YbgF
      pfam05279
      Location:14276
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:424448
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:557710
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:311350
      TPR_14; Tetratricopeptide repeat
    10. XM_017013435.2XP_016868924.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

    11. XM_017013427.2XP_016868916.1  aspartyl/asparaginyl beta-hydroxylase isoform X4

    12. XM_017013426.2XP_016868915.1  aspartyl/asparaginyl beta-hydroxylase isoform X3

    13. XM_047421793.1XP_047277749.1  aspartyl/asparaginyl beta-hydroxylase isoform X16

    14. XM_047421792.1XP_047277748.1  aspartyl/asparaginyl beta-hydroxylase isoform X14

    15. XM_024447157.2XP_024302925.1  aspartyl/asparaginyl beta-hydroxylase isoform X13

      UniProtKB/TrEMBL
      B3GQE5
      Conserved Domains (1) summary
      pfam05279
      Location:43310
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    16. XM_024447158.2XP_024302926.1  aspartyl/asparaginyl beta-hydroxylase isoform X15

      UniProtKB/TrEMBL
      B3GQE5
      Conserved Domains (1) summary
      pfam05279
      Location:14281
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    17. XM_024447159.2XP_024302927.1  aspartyl/asparaginyl beta-hydroxylase isoform X17

      UniProtKB/TrEMBL
      G3XAN5
      Related
      ENSP00000428060.1, ENST00000517661.5
      Conserved Domains (1) summary
      pfam05279
      Location:14117
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      61924301..62138323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360485.1XP_054216460.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

    2. XM_054360482.1XP_054216457.1  aspartyl/asparaginyl beta-hydroxylase isoform X2

    3. XM_054360481.1XP_054216456.1  aspartyl/asparaginyl beta-hydroxylase isoform X1

    4. XM_054360492.1XP_054216467.1  aspartyl/asparaginyl beta-hydroxylase isoform X12

    5. XM_054360491.1XP_054216466.1  aspartyl/asparaginyl beta-hydroxylase isoform X11

    6. XM_054360488.1XP_054216463.1  aspartyl/asparaginyl beta-hydroxylase isoform X8

    7. XM_054360486.1XP_054216461.1  aspartyl/asparaginyl beta-hydroxylase isoform X6

    8. XM_054360489.1XP_054216464.1  aspartyl/asparaginyl beta-hydroxylase isoform X9

    9. XM_054360490.1XP_054216465.1  aspartyl/asparaginyl beta-hydroxylase isoform X10

    10. XM_054360487.1XP_054216462.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

    11. XM_054360484.1XP_054216459.1  aspartyl/asparaginyl beta-hydroxylase isoform X4

    12. XM_054360483.1XP_054216458.1  aspartyl/asparaginyl beta-hydroxylase isoform X3

    13. XM_054360496.1XP_054216471.1  aspartyl/asparaginyl beta-hydroxylase isoform X16

    14. XM_054360494.1XP_054216469.1  aspartyl/asparaginyl beta-hydroxylase isoform X14

    15. XM_054360493.1XP_054216468.1  aspartyl/asparaginyl beta-hydroxylase isoform X13

    16. XM_054360495.1XP_054216470.1  aspartyl/asparaginyl beta-hydroxylase isoform X15

    17. XM_054360497.1XP_054216472.1  aspartyl/asparaginyl beta-hydroxylase isoform X17

      UniProtKB/TrEMBL
      G3XAN5