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SPATA31A6 SPATA31 subfamily A member 6 [ Homo sapiens (human) ]

Gene ID: 389730, updated on 7-Apr-2024

Summary

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Official Symbol
SPATA31A6provided by HGNC
Official Full Name
SPATA31 subfamily A member 6provided by HGNC
Primary source
HGNC:HGNC:32006
See related
Ensembl:ENSG00000185775 AllianceGenome:HGNC:32006
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
FAM75A6
Summary
Predicted to enable actin binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 4.4) See more
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Genomic context

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Location:
9p11.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (42183659..42189887)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (43734207..43740441)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (43624502..43630730, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene contactin associated protein family member 3B Neighboring gene RNA, 7SL, cytoplasmic 343, pseudogene Neighboring gene ubiquitin specific peptidase 12 pseudogene Neighboring gene family with sequence similarity 74 member A7 Neighboring gene 6-pyruvoyltetrahydropterin synthase 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

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

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 31A6
Names
family with sequence similarity 75, member A6

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_001145196.1 → NP_001138668.1  spermatogenesis-associated protein 31A6

    See identical proteins and their annotated locations for NP_001138668.1

    Status: VALIDATED

    Source sequence(s)
    AL445584
    Consensus CDS
    CCDS75837.1
    UniProtKB/Swiss-Prot
    Q5VVP1
    UniProtKB/TrEMBL
    B2RUU1
    Related
    ENSP00000329825.6, ENST00000332857.7
    Conserved Domains (2) summary
    pfam14650
    Location:396 → 750
    FAM75; FAM75 family
    pfam15371
    Location:76 → 155
    DUF4599; Domain of unknown function (DUF4599)

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
    42183659..42189887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517871.4 → XP_011516173.1  spermatogenesis-associated protein 31A6 isoform X1

    UniProtKB/TrEMBL
    B2RUU1
    Conserved Domains (2) summary
    pfam14650
    Location:408 → 762
    FAM75; FAM75 family
    pfam15371
    Location:88 → 167
    DUF4599; Domain of unknown function (DUF4599)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    43734207..43740441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362949.1 → XP_054218924.1  spermatogenesis-associated protein 31A6 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VVP1.1 GenPept UniProtKB/Swiss-Prot:Q5VVP1

Gene LinkOut

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