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

Gene ID: 441452, updated on 10-Oct-2023

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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (87913936..87923657)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (100067940..100077681)
105.20220307 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. 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
  2. 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)

Genotypes

General gene information

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Homology

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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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_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
    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.

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