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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)

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