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

Gene ID: 647060, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 6.5) See more
Orthologs
all
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Genomic context

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Location:
9p12
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (39355667..39361962)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (39369111..39375403)
105.20220307 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)

Genotypes

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_2023_10

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

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

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

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