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    SPATA31C1 SPATA31 subfamily C member 1 [ Homo sapiens (human) ]

    Gene ID: 441452, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPATA31C1provided by HGNC
    Official Full Name
    SPATA31 subfamily C member 1provided by HGNC
    Primary source
    HGNC:HGNC:27846
    See related
    Ensembl:ENSG00000230246 AllianceGenome:HGNC:27846
    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
    FAM75C1; SPATA31C2
    Summary
    Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 6.6) See more
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    Genomic context

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    See SPATA31C1 in Genome Data Viewer
    Location:
    9q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (87913936..87923657)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (100067940..100077681)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (90532877..90538572)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC497256 Neighboring gene uncharacterized LOC124902199 Neighboring gene SPATA31 subfamily E member 1 Neighboring gene zinc finger protein 598, E3 ubiquitin ligase pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:90566553-90567406 Neighboring gene uncharacterized LOC122394732

    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. DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples. Jiao F, et al. J Proteome Res, 2024 Aug 2. PMID 38334954, Free PMC Article
    2. 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
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Clone Names

    • FLJ36055

    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
    putative spermatogenesis-associated protein 31C1
    Names
    family with sequence similarity 75, member C1
    spermatogenesis-associated protein 31C1
    spermatogenesis-associated protein 31C2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001145124.1 → NP_001138596.1  putative spermatogenesis-associated protein 31C1

      See identical proteins and their annotated locations for NP_001138596.1

      Status: VALIDATED

      Source sequence(s)
      AK310310, AL353572, DB065037
      UniProtKB/Swiss-Prot
      P0DKV0
      Related
      ENSP00000516655.1, ENST00000706933.1
      Conserved Domains (3) summary
      PHA03247
      Location:128 → 371
      PHA03247; large tegument protein UL36; Provisional
      pfam14650
      Location:317 → 606
      FAM75; FAM75 family
      pfam15371
      Location:88 → 169
      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
      87913936..87923657
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518702.1 → XP_011517004.1  putative spermatogenesis-associated protein 31C1 isoform X1

      See identical proteins and their annotated locations for XP_011517004.1

      Conserved Domains (3) summary
      PHA03247
      Location:142 → 385
      PHA03247; large tegument protein UL36; Provisional
      pfam14650
      Location:331 → 620
      FAM75; FAM75 family
      pfam15371
      Location:103 → 183
      DUF4599; Domain of unknown function (DUF4599)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      100067940..100077681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362991.1 → XP_054218966.1  putative spermatogenesis-associated protein 31C1 isoform X3

    2. XM_054362990.1 → XP_054218965.1  putative spermatogenesis-associated protein 31C1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DKV0.1 GenPept UniProtKB/Swiss-Prot:P0DKV0

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials