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

    Gene ID: 138724, updated on 17-Sep-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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    See SPATA31G1 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35041095..35045986)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35060274..35065165)
    RS_2024_09 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 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_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
      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

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