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SPATA31F3 SPATA31 subfamily F member 3 [ Homo sapiens (human) ]

Gene ID: 100129969, updated on 8-Mar-2024

Summary

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Official Symbol
SPATA31F3provided by HGNC
Official Full Name
SPATA31 subfamily F member 3provided by HGNC
Primary source
HGNC:HGNC:42673
See related
Ensembl:ENSG00000187791 AllianceGenome:HGNC:42673
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
FAM205C; FAM205CP
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 8.5) See more
Orthologs
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Genomic context

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Location:
9p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34889066..34895764, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34908086..34914785, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34889063..34895761, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PHD finger protein 24 Neighboring gene SPATA31 subfamily F member 1 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 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 6 Neighboring gene glutamate-ammonia ligase pseudogene 4

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. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
  2. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

GeneRIFs: Gene References Into Functions

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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Homology

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
protein SPATA31F3
Names
FAM205C pseudogene
family with sequence similarity 205 member C
family with sequence similarity 205, member C, pseudogene
protein FAM205C
protein FAM205CP
putative family with sequence similarity 205, member C protein
transmembrane protein C9orf144B pseudogene

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_001309426.2 → NP_001296355.1  protein SPATA31F3 isoform a

    See identical proteins and their annotated locations for NP_001296355.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AI125404, AL355377, DB042441, DB454411
    Consensus CDS
    CCDS83358.1
    UniProtKB/Swiss-Prot
    A6NFA0
    Related
    ENSP00000489585.1, ENST00000603640.6
    Conserved Domains (1) summary
    pfam15371
    Location:55 → 136
    DUF4599; Domain of unknown function (DUF4599)

  2. NM_001309427.2 → NP_001296356.1  protein SPATA31F3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AI125404, AL355377, DB042441
    Consensus CDS
    CCDS83359.1
    UniProtKB/TrEMBL
    A0A0U1RRK5
    Related
    ENSP00000489571.1, ENST00000340783.11
    Conserved Domains (1) summary
    pfam15371
    Location:52 → 118
    DUF4599; Domain of unknown function (DUF4599)

  3. NM_001375894.1 → NP_001362823.1  protein SPATA31F3 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL355377
    Conserved Domains (1) summary
    pfam15371
    Location:52 → 122
    DUF4599; Domain of unknown function (DUF4599)

RNA

  1. NR_164743.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL355377

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
    34889066..34895764 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    34908086..34914785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_027513.1: Suppressed sequence

    Description
    NG_027513.1: This RefSeq was removed because it is now thought that this gene does encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NFA0.2 GenPept UniProtKB/Swiss-Prot:A6NFA0

Gene LinkOut

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