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SPATA31G1 SPATA31 subfamily G member 1 [ Homo sapiens (human) ]

Gene ID: 138724, updated on 5-Mar-2024

Summary

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Official Symbol
SPATA31G1provided by HGNC
Official Full Name
SPATA31 subfamily G member 1provided by HGNC
Primary source
HGNC:HGNC:31418
See related
Ensembl:ENSG00000174038 AllianceGenome:HGNC:31418
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
C9orf131
Expression
Restricted expression toward testis (RPKM 21.1) See more
Orthologs
mouse all
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Genomic context

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Location:
9p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35041095..35045986)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35060274..35065165)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35041092..35045983)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376025 Neighboring gene SYF2 pre-mRNA splicing factor pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 338, pseudogene Neighboring gene valosin containing protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19859

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. C9orf131 and C10orf120 are not essential for male fertility in humans or mice. He J, et al. Dev Biol, 2023 May. PMID 36871790
  2. Hypermethylation of UCHL1 Promotes Metastasis of Nasopharyngeal Carcinoma by Suppressing Degradation of Cortactin (CTTN). Zhao Y, et al. Cells, 2020 Feb 27. PMID 32120844, Free PMC Article
  3. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620
  4. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. Oliviero G, et al. Sci Rep, 2015 Dec 21. PMID 26687479, Free PMC Article
  5. USP11 mediates repair of DNA-protein cross-links by deubiquitinating SPRTN metalloprotease. Perry M, et al. J Biol Chem, 2021 Jan-Jun. PMID 33567341, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. C9orf131 and C10orf120 are not essential for male fertility in humans or mice.
    Title: C9orf131 and C10orf120 are not essential for male fertility in humans or mice.
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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of chromosome 9 open reading frame 131 (C9orf131) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00273, MGC41945

General protein information

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Preferred Names
spermatogenesis-associated protein 31G1
Names
uncharacterized protein C9orf131

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_001040410.3 → NP_001035500.1  spermatogenesis-associated protein 31G1 isoform B

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant1. It encodes isoform B, which is shorter than isoform A.
    Source sequence(s)
    BC045643, DB091135, DB097641
    UniProtKB/Swiss-Prot
    Q5VYM1
    Conserved Domains (1) summary
    pfam14650
    Location:154 → 199
    FAM75; FAM75 family

  2. NM_001040411.3 → NP_001035501.1  spermatogenesis-associated protein 31G1 isoform C

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, resulting in different 5' UTR and 5' coding regions, compared to variant 1. It encodes isoform C, which is shorter and has a distinct N-terminus, compared to isoform A.
    Source sequence(s)
    BC045643, DB072581, DB081756, DB093341
    Consensus CDS
    CCDS47962.1
    UniProtKB/Swiss-Prot
    Q5VYM1
    Related
    ENSP00000346472.5, ENST00000354479.5
    Conserved Domains (1) summary
    pfam14650
    Location:116 → 161
    FAM75; FAM75 family

  3. NM_001040412.3 → NP_001035502.1  spermatogenesis-associated protein 31G1 isoform D

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon structure, resulting in different 5' UTR and 5' coding regions, compared to variant 1. It encodes isoform D, which is shorter and has a distinct N-terminus, compared to isoform A.
    Source sequence(s)
    BC045643, DB072581, DB093341, DB096349
    Consensus CDS
    CCDS47961.1
    UniProtKB/Swiss-Prot
    Q5VYM1
    Related
    ENSP00000393683.2, ENST00000421362.6
    Conserved Domains (1) summary
    pfam14650
    Location:141 → 186
    FAM75; FAM75 family

  4. NM_001287391.2 → NP_001274320.1  spermatogenesis-associated protein 31G1 isoform E

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' terminal exon, resulting in different 5' UTR and 5' coding regions, compared to variant 1. It encodes isoform E, which is shorter and has a distinct N-terminus, compared to isoform A.
    Source sequence(s)
    AL353795, BC045643, DB077276, DB097641
    UniProtKB/Swiss-Prot
    Q5VYM1
    Conserved Domains (1) summary
    pfam14650
    Location:116 → 161
    FAM75; FAM75 family

  5. NM_203299.4 → NP_976044.2  spermatogenesis-associated protein 31G1 isoform A

    See identical proteins and their annotated locations for NP_976044.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A).
    Source sequence(s)
    BC045643, DB068600, DB093341
    Consensus CDS
    CCDS6572.2
    UniProtKB/Swiss-Prot
    A6NLE6, E9PB26, Q5VYM1, Q86XC6, Q9UF74
    Related
    ENSP00000308279.5, ENST00000312292.6
    Conserved Domains (1) summary
    pfam14650
    Location:189 → 234
    FAM75; FAM75 family

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
    35041095..35045986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    35060274..35065165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VYM1.3 GenPept UniProtKB/Swiss-Prot:Q5VYM1

Gene LinkOut

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