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    ASPDH aspartate dehydrogenase domain containing [ Homo sapiens (human) ]

    Gene ID: 554235, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ASPDHprovided by HGNC
    Official Full Name
    aspartate dehydrogenase domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:33856
    See related
    Ensembl:ENSG00000204653 AllianceGenome:HGNC:33856
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable NADP binding activity and aspartate dehydrogenase activity. Predicted to be involved in NAD biosynthetic process. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in liver (RPKM 17.1), kidney (RPKM 16.9) and 2 other tissues See more
    Orthologs
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    Genomic context

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    See ASPDH in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50511603..50515101, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53600457..53603534, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51014860..51017941, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ER membrane protein complex subunit 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14991 Neighboring gene MYBPC2 cis regulating lncRNA enhancer of myogenesis Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51004588-51005251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013121-51013628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013629-51014135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14992 Neighboring gene uncharacterized LOC124904747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51015053-51015642 Neighboring gene Josephin domain containing 2 Neighboring gene leucine rich repeat containing 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51055019-51055930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10972 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10973 Neighboring gene CRISPRi-validated cis-regulatory element chr19.5650 Neighboring gene small NF90 (ILF3) associated RNA F

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification of ASPDH as a novel NAADP-binding protein. He X, et al. Biochem Biophys Res Commun, 2022 Sep 17. PMID 35841763
    2. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. Panorama of ancient metazoan macromolecular complexes. Wan C, et al. Nature, 2015 Sep 17. PMID 26344197, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables aspartate dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in NAD biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    aspartate dehydrogenase domain-containing protein
    Names
    putative L-aspartate dehydrogenase
    NP_001019827.2
    NP_001108070.1
    XP_024307353.1
    XP_047295017.1
    XP_047295018.1
    XP_047295019.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001024656.3 → NP_001019827.2  aspartate dehydrogenase domain-containing protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks several in-frame portions of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter, distinct N-terminus when compared to isoform 1. Isoform 2 lacks an N-terminus NAD-binding-3 domain, compared to isoform 1.
      Source sequence(s)
      BC066359, BM695973, BU729215
      Consensus CDS
      CCDS33082.1
      UniProtKB/Swiss-Prot
      A6ND91
      Related
      ENSP00000366114.2, ENST00000376916.7
      Conserved Domains (2) summary
      pfam01958
      Location:68 → 156
      DUF108; Domain of unknown function DUF108
      cl21454
      Location:12 → 35
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001114598.2 → NP_001108070.1  aspartate dehydrogenase domain-containing protein isoform 1

      See identical proteins and their annotated locations for NP_001108070.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008743, BM924033, BU729215
      Consensus CDS
      CCDS46153.1
      UniProtKB/Swiss-Prot
      A6ND91, Q6NZ37
      Related
      ENSP00000373860.3, ENST00000389208.9
      Conserved Domains (2) summary
      pfam01958
      Location:173 → 261
      DUF108; Domain of unknown function DUF108
      pfam03447
      Location:13 → 123
      NAD_binding_3; Homoserine dehydrogenase, NAD binding domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50511603..50515101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439062.1 → XP_047295018.1  aspartate dehydrogenase domain-containing protein isoform X2

    2. XM_047439061.1 → XP_047295017.1  aspartate dehydrogenase domain-containing protein isoform X1

    3. XM_047439063.1 → XP_047295019.1  aspartate dehydrogenase domain-containing protein isoform X4

    4. XM_024451585.2 → XP_024307353.1  aspartate dehydrogenase domain-containing protein isoform X3

      Conserved Domains (2) summary
      pfam03447
      Location:13 → 90
      NAD_binding_3; Homoserine dehydrogenase, NAD binding domain
      pfam01958
      Location:123 → 211
      DUF108; Domain of unknown function DUF108

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53600457..53603534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6ND91.2 GenPept UniProtKB/Swiss-Prot:A6ND91

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