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

    Gene ID: 259308, updated on 28-Oct-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, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 19.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPATA31F1 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34723053..34729488, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34742088..34748523, complement)
    RS_2024_09 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 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_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
      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.

    Chemical Information
    Molecular Biology Databases
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