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

Summary

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, Nov 2024]
Expression: Restricted expression toward testis (RPKM 4.4) See more
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Genomic context

Location:: 9p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (42183659..42189887)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (43734207..43740441)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (43624502..43630730, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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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)

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_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

42183659..42189887

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)