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    ARL6IP4 ARF like GTPase 6 interacting protein 4 [ Homo sapiens (human) ]

    Gene ID: 51329, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ARL6IP4provided by HGNC
    Official Full Name
    ARF like GTPase 6 interacting protein 4provided by HGNC
    Primary source
    HGNC:HGNC:18076
    See related
    Ensembl:ENSG00000182196 MIM:607668; AllianceGenome:HGNC:18076
    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
    Also known as
    SR-25; SRp25; SFRS20; SRrp37
    Summary
    Enables identical protein binding activity. Predicted to be involved in RNA splicing. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 37.6), kidney (RPKM 36.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARL6IP4 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122980233..122982909)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122976758..122979434)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123464780..123467456)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903039 Neighboring gene hESC enhancers GRCh37_chr12:123356243-123356750 and GRCh37_chr12:123356751-123357257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123357767-123358273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7241 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123361289-123361497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123372974-123373690 Neighboring gene VPS37B subunit of ESCRT-I Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123375921-123376422 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123376423-123376922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5024 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123394282-123394782 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123394783-123395283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123407378-123407878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123407879-123408379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123414465-123414965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123424202-123425057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123429718-123430527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123431158-123431906 Neighboring gene ATP binding cassette subfamily B member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123449651-123450458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123450459-123451264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7248 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:123464801-123465306 and GRCh37_chr12:123465307-123465812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7249 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 2 Neighboring gene phosphatidylinositol transfer protein membrane associated 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123496109-123497029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123512108-123513066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123513067-123514024 Neighboring gene microRNA 4304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123528097-123528676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123543041-123543542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123549368-123550230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123550389-123550890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123554866-123555738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123562495-123563216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7250 Neighboring gene PITPNM2 antisense RNA 1

    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. An SR-protein induced by HSVI binding to cells functioning as a splicing inhibitor of viral pre-mRNA. Li Q, et al. J Mol Biol, 2002 Mar 1. PMID 11884129
    2. Molecular cloning and expression analysis of a putative nuclear protein, SR-25. Sasahara K, et al. Biochem Biophys Res Commun, 2000 Mar 16. PMID 10708573
    3. A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit. Ingley E, et al. FEBS Lett, 1999 Oct 1. PMID 10508919
    4. Proteome-scale Binary Interactomics in Human Cells. Lievens S, et al. Mol Cell Proteomics, 2016 Dec. PMID 27803151, Free PMC Article
    5. Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107412

    See all (78) 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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    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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    Markers

    Potential readthrough

    Included gene: OGFOD2

    Homology

    Clone Names

    • MGC814

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ADP-ribosylation factor-like protein 6-interacting protein 4
    Names
    ADP ribosylation factor like GTPase 6 interacting protein 4
    ADP-ribosylation factor GTPase 6 interacting protein 4
    ADP-ribosylation factor-like 6 interacting protein 4
    ADP-ribosylation-like factor 6 interacting protein 4
    ARL-6-interacting protein 4
    HSP-975
    HSVI binding protein
    SR-15
    SRp25 nuclear protein
    aip-4
    splicing factor SRrp37
    splicing factor, arginine/serine-rich 20
    splicing regulator SRrp38

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001002251.3 → NP_001002251.3  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS45004.3
      UniProtKB/TrEMBL
      F8WCT1
      Related
      ENSP00000414847.4, ENST00000453766.7
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 227
      SR-25; Nuclear RNA-splicing-associated protein

    2. NM_001278378.2 → NP_001265307.2  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region, compared to variant 1. The resulting isoform (5) lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS91765.1
      UniProtKB/TrEMBL
      A0A0C4DH18
      Related
      ENSP00000350532.4, ENST00000357866.4
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 179
      SR-25; Nuclear RNA-splicing-associated protein

    3. NM_001278379.2 → NP_001265308.2  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region, compared to variant 1. The resulting isoform (6) lacks two internal segments, compared to isoform 1. Variants 2 and 6 both encode the same isoform (2).
      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS53843.3
      UniProtKB/TrEMBL
      A0A0C4DG62
      Related
      ENSP00000406036.2, ENST00000426960.6
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 216
      SR-25; Nuclear RNA-splicing-associated protein

    4. NM_001278380.2 → NP_001265309.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 7

      See identical proteins and their annotated locations for NP_001265309.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate splice site compared to variant 1. The resulting isoform (7) lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS61273.1
      UniProtKB/Swiss-Prot
      Q66PJ3
      Related
      ENSP00000396723.2, ENST00000454885.6
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 224
      SR-25; Nuclear RNA-splicing-associated protein

    5. NM_001400281.1 → NP_001387210.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC026362

    6. NM_001400282.1 → NP_001387211.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS31923.3
      UniProtKB/Swiss-Prot
      A4UCR8, B3V0L0, B3V0L1, Q4F966, Q504R8, Q66PJ3, Q96BI2, Q9NR05, Q9P2R9
      UniProtKB/TrEMBL
      A0A8C8KBE9

    7. NM_001400283.1 → NP_001387212.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS61273.1

    8. NM_001400284.1 → NP_001387213.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS91764.1
      UniProtKB/TrEMBL
      F8WEP2

    9. NM_001400285.1 → NP_001387214.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS91765.1
      UniProtKB/TrEMBL
      A0A0C4DH18

    10. NM_001400300.1 → NP_001387229.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC026362

    11. NM_001400301.1 → NP_001387230.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS91764.1
      UniProtKB/TrEMBL
      F8WEP2

    12. NM_001400302.1 → NP_001387231.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS61273.1

    13. NM_001400303.1 → NP_001387232.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS45004.3
      UniProtKB/TrEMBL
      F8WCT1
      Related
      ENSP00000396365.2, ENST00000439686.6
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 227
      SR-25; Nuclear RNA-splicing-associated protein

    14. NM_001400304.1 → NP_001387233.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC026362

    15. NM_001400305.1 → NP_001387234.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS91764.1
      UniProtKB/TrEMBL
      F8WEP2
      Related
      ENSP00000413132.2, ENST00000412505.6

    16. NM_001400306.1 → NP_001387235.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS91765.1
      UniProtKB/TrEMBL
      A0A0C4DH18

    17. NM_001400307.1 → NP_001387236.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS53843.3
      UniProtKB/TrEMBL
      A0A0C4DG62

    18. NM_001400308.1 → NP_001387237.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC026362

    19. NM_001400309.1 → NP_001387238.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS61273.1

    20. NM_001400310.1 → NP_001387239.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS31923.3
      UniProtKB/Swiss-Prot
      A4UCR8, B3V0L0, B3V0L1, Q4F966, Q504R8, Q66PJ3, Q96BI2, Q9NR05, Q9P2R9
      UniProtKB/TrEMBL
      A0A8C8KBE9

    21. NM_001400311.1 → NP_001387240.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS45004.3
      UniProtKB/TrEMBL
      F8WCT1
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 227
      SR-25; Nuclear RNA-splicing-associated protein

    22. NM_001400312.1 → NP_001387241.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS91765.1
      UniProtKB/TrEMBL
      A0A0C4DH18

    23. NM_001400313.1 → NP_001387242.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS53843.3
      UniProtKB/TrEMBL
      A0A0C4DG62

    24. NM_001400314.1 → NP_001387243.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC026362

    25. NM_001400315.1 → NP_001387244.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS31923.3
      UniProtKB/Swiss-Prot
      A4UCR8, B3V0L0, B3V0L1, Q4F966, Q504R8, Q66PJ3, Q96BI2, Q9NR05, Q9P2R9
      UniProtKB/TrEMBL
      A0A8C8KBE9

    26. NM_001400316.1 → NP_001387245.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS31923.3
      UniProtKB/Swiss-Prot
      A4UCR8, B3V0L0, B3V0L1, Q4F966, Q504R8, Q66PJ3, Q96BI2, Q9NR05, Q9P2R9
      UniProtKB/TrEMBL
      A0A8C8KBE9

    27. NM_001400317.1 → NP_001387246.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS53843.3
      UniProtKB/TrEMBL
      A0A0C4DG62
      Related
      ENST00000536502.5

    28. NM_001400318.1 → NP_001387247.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS45004.3
      UniProtKB/TrEMBL
      F8WCT1
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 227
      SR-25; Nuclear RNA-splicing-associated protein

    29. NM_001400319.1 → NP_001387248.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS61273.1

    30. NM_001400320.1 → NP_001387249.1  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS45004.3
      UniProtKB/TrEMBL
      F8WCT1
      Related
      ENSP00000441406.1, ENST00000413381.6
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 227
      SR-25; Nuclear RNA-splicing-associated protein

    31. NM_016638.4 → NP_057722.4  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice junction in the coding region, but maintains the reading frame, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1. Variants 2 and 6 both encode the same isoform (2).
      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS53843.3
      UniProtKB/TrEMBL
      A0A0C4DG62
      Related
      ENSP00000442718.3, ENST00000543566.6
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 216
      SR-25; Nuclear RNA-splicing-associated protein

    32. NM_018694.4 → NP_061164.4  ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS31923.3
      UniProtKB/Swiss-Prot
      A4UCR8, B3V0L0, B3V0L1, Q4F966, Q504R8, Q66PJ3, Q96BI2, Q9NR05, Q9P2R9
      UniProtKB/TrEMBL
      A0A8C8KBE9
      Related
      ENSP00000313422.7, ENST00000315580.10
      Conserved Domains (1) summary
      pfam10500
      Location:31 → 235
      SR-25; Nuclear RNA-splicing-associated protein

    RNA

    1. NR_103512.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) has three alternate splice sites in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC026362

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      122980233..122982909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122976758..122979434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001002252.2: Suppressed sequence

      Description
      NM_001002252.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q66PJ3.3 GenPept UniProtKB/Swiss-Prot:Q66PJ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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