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    SPATA31A3 SPATA31 subfamily A member 3 [ Homo sapiens (human) ]

    Gene ID: 727830, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SPATA31A3provided by HGNC
    Official Full Name
    SPATA31 subfamily A member 3provided by HGNC
    Primary source
    HGNC:HGNC:32003
    See related
    Ensembl:ENSG00000275969 AllianceGenome:HGNC:32003
    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
    FAM75A3
    Summary
    Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 6.0) See more
    Orthologs
    all
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    Genomic context

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    See SPATA31A3 in Genome Data Viewer
    Location:
    9q21.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (66986304..66992550, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (78758409..78764650, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (40700291..40706537)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:40713401-40713901 Neighboring gene family with sequence similarity 74 member A3 Neighboring gene uncharacterized LOC105379450 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:40673375-40673944 Neighboring gene CNTNAP3 pseudogene 2 Neighboring gene USP12 pseudogene 3

    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 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. Novel biomarkers for primary biliary cholangitis to improve diagnosis and understand underlying regulatory mechanisms. Bombaci M, et al. Liver Int, 2019 Nov. PMID 31033124
    2. The testis-specific VAD1.3/AEP1 interacts with β-actin and syntaxin 1 and directs peri-nuclear/Golgi expression with bipartite nucleus localization (BNL) sequence. Zuo Y, et al. Biochem Biophys Res Commun, 2010 Oct 15. PMID 20850414
    3. p16 Protein and gigaxonin are associated with the ubiquitination of NFκB in cisplatin-induced senescence of cancer cells. Veena MS, et al. J Biol Chem, 2014 Dec 12. PMID 25331947, Free PMC Article
    4. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel biomarkers for primary biliary cholangitis to improve diagnosis and understand underlying regulatory mechanisms.
      Title: Novel biomarkers for primary biliary cholangitis to improve diagnosis and understand underlying regulatory mechanisms.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC181958, DKFZp434B204

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    spermatogenesis-associated protein 31A3
    Names
    family with sequence similarity 75, member A3
    protein FAM75A3

    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_001083124.1 → NP_001076593.1  spermatogenesis-associated protein 31A3

      See identical proteins and their annotated locations for NP_001076593.1

      Status: VALIDATED

      Source sequence(s)
      AL353770
      Consensus CDS
      CCDS78400.1
      UniProtKB/Swiss-Prot
      Q5VYP0
      UniProtKB/TrEMBL
      B2RUU1
      Related
      ENSP00000485118.1, ENST00000428649.5
      Conserved Domains (2) summary
      pfam14650
      Location:396 → 754
      FAM75; FAM75 family
      pfam15371
      Location:76 → 155
      DUF4599; Domain of unknown function (DUF4599)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      66986304..66992550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545680.4 → XP_011543982.1  spermatogenesis-associated protein 31A3 isoform X1

      UniProtKB/TrEMBL
      B2RUU1
      Conserved Domains (2) summary
      pfam14650
      Location:345 → 703
      FAM75; FAM75 family
      pfam15371
      Location:32 → 104
      DUF4599; Domain of unknown function (DUF4599)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      78758409..78764650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363720.1 → XP_054219695.1  spermatogenesis-associated protein 31A3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VYP0.1 GenPept UniProtKB/Swiss-Prot:Q5VYP0

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials