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SPATA31F1 SPATA31 subfamily F member 1 [ Homo sapiens (human) ]

Gene ID: 259308, updated on 5-Mar-2024

Summary

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Official Symbol
SPATA31F1provided by HGNC
Official Full Name
SPATA31 subfamily F member 1provided by HGNC
Primary source
HGNC:HGNC:41911
See related
Ensembl:ENSG00000205108 AllianceGenome:HGNC:41911
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
FAM205A; C9orf144B
Summary
Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 19.0) See more
Orthologs
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Genomic context

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Location:
9p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34723053..34729488, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34742088..34748523, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34723050..34729485, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PHD finger protein 24 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19856 Neighboring gene C-C motif chemokine ligand 19 Neighboring gene C-C motif chemokine ligand 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34766948-34767450 Neighboring gene SPATA31 subfamily F member 2, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr9:34870473-34870974 Neighboring gene SPATA31 subfamily F member 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
  • 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. Identification of nine genes as novel susceptibility loci for early-onset ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage. Yamada Y, et al. Biomed Rep, 2018 Jul. PMID 29930801, Free PMC Article
  2. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article
  3. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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Markers

Homology

Clone Names

  • FLJ58301

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
protein SPATA31F1
Names
family with sequence similarity 205 member A
protein FAM205A
transmembrane protein C9orf144B

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.

Genomic

  1. NG_052658.1 RefSeqGene

    Range
    5051..11486
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001141917.2 → NP_001135389.1  protein SPATA31F1

    See identical proteins and their annotated locations for NP_001135389.1

    Status: VALIDATED

    Source sequence(s)
    AK302320, AL162231, BX104598, DC402407, DC403775
    Consensus CDS
    CCDS55305.1
    UniProtKB/Swiss-Prot
    A8MVW7, Q6ZU69
    Related
    ENSP00000417711.1, ENST00000378788.4
    Conserved Domains (2) summary
    pfam14650
    Location:421 → 700
    FAM75; FAM75 family
    pfam15371
    Location:55 → 136
    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
    34723053..34729488 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    34742088..34748523 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_002290.1: Suppressed sequence

    Description
    NG_002290.1: This RefSeq was permanently suppressed because it is now thought that this gene may encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZU69.4 GenPept UniProtKB/Swiss-Prot:Q6ZU69

Gene LinkOut

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

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