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    SPATA31A1 SPATA31 subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 647060, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPATA31A1provided by HGNC
    Official Full Name
    SPATA31 subfamily A member 1provided by HGNC
    Primary source
    HGNC:HGNC:23394
    See related
    Ensembl:ENSG00000204849 AllianceGenome:HGNC:23394
    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
    C9orf36; FAM75A1; FAM75A2; C9orf36A; SPATA31A2
    Summary
    Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 6.5) See more
    Orthologs
    all
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    Genomic context

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    See SPATA31A1 in Genome Data Viewer
    Location:
    9p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (39355667..39361962)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (39369111..39375403)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (39355666..39361959)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene contactin associated protein family member 3 Neighboring gene ubiquitin specific peptidase 12 pseudogene Neighboring gene uncharacterized LOC105376045 Neighboring gene NANOG hESC enhancer GRCh37_chr9:39328452-39328996 Neighboring gene family with sequence similarity 74 member A1 Neighboring gene zinc finger protein 658B (pseudogene)

    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. 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
    2. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    3. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    4. 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

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ56363, MGC181958

    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 31A1
    Names
    SPATA31 subfamily A, member 2
    family with sequence similarity 75, member A1
    family with sequence similarity 75, member A2
    protein FAM75A1
    protein FAM75A2
    spermatogenesis-associated protein 31A2

    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_001085452.4 → NP_001078921.3  spermatogenesis-associated protein 31A1

      Status: VALIDATED

      Source sequence(s)
      AI023217, BX005214
      Consensus CDS
      CCDS43808.3
      UniProtKB/Swiss-Prot
      Q5RGS2, Q5TZJ5
      UniProtKB/TrEMBL
      B2RUU1
      Related
      ENSP00000366875.5, ENST00000377647.6
      Conserved Domains (3) summary
      pfam14650
      Location:396 → 754
      FAM75; FAM75 family
      pfam15371
      Location:77 → 157
      DUF4599; Domain of unknown function (DUF4599)
      cl28033
      Location:87 → 274
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      39355667..39361962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423731.1 → XP_047279687.1  spermatogenesis-associated protein 31A1 isoform X1

      UniProtKB/TrEMBL
      B4DYR9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      39369111..39375403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363553.1 → XP_054219528.1  spermatogenesis-associated protein 31A1 isoform X1

      UniProtKB/TrEMBL
      B4DYR9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040065.1: Suppressed sequence

      Description
      NM_001040065.1: This RefSeq was permanently suppressed because it is a redundant RefSeq for this spermatogenesis-associated protein family member.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TZJ5.1 GenPept UniProtKB/Swiss-Prot:Q5TZJ5

    Gene LinkOut

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

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