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    SPATA3 spermatogenesis associated 3 [ Homo sapiens (human) ]

    Gene ID: 130560, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SPATA3provided by HGNC
    Official Full Name
    spermatogenesis associated 3provided by HGNC
    Primary source
    HGNC:HGNC:17884
    See related
    Ensembl:ENSG00000173699 MIM:619857; AllianceGenome:HGNC:17884
    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
    TSARG1
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 15.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPATA3 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (230996121..231020109)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (231479391..231504484)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (231860836..231872755)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17269 Neighboring gene COX20 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17272 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:231850196-231850380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:231851885-231852384 Neighboring gene SPATA3 antisense RNA 1 (head to head) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:231860347-231860880 Neighboring gene uncharacterized LOC112268432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17274 Neighboring gene chromosome 2 open reading frame 72 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12423 Neighboring gene proteasome 26S subunit, non-ATPase 1 Neighboring gene 5-hydroxytryptamine receptor 2B

    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. [Molecular cloning for testis spermatogenesis cell apoptosis related gene TSARG1 and Mtsarg1 and expression analysis for Mtsarg1 gene]. Fu JJ, et al. Yi Chuan Xue Bao, 2003 Jan. PMID 12812072
    2. 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
    3. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    4. 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
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (7) citations in PubMed

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    spermatogenesis-associated protein 3
    Names
    testis and spermatogenesis cell apoptosis related gene 1
    testis and spermatogenesis cell-related protein 1
    testis spermatocyte apoptosis-related protein 1

    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_139073.5 → NP_620712.2  spermatogenesis-associated protein 3

      See identical proteins and their annotated locations for NP_620712.2

      Status: VALIDATED

      Source sequence(s)
      AC105344
      Consensus CDS
      CCDS2481.1
      UniProtKB/Swiss-Prot
      Q86WX5, Q8N9Y6, Q8NHX4
      Related
      ENSP00000403804.2, ENST00000433428.7
      Conserved Domains (2) summary
      pfam12238
      Location:18 → 56
      MSA-2c; Merozoite surface antigen 2c
      pfam15662
      Location:1 → 191
      SPATA3; Spermatogenesis-associated protein 3 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      230996121..231020109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443398.1 → XP_047299354.1  spermatogenesis-associated protein 3 isoform X1

    2. XM_017003363.3 → XP_016858852.1  spermatogenesis-associated protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q86WX5, Q8N9Y6, Q8NHX4
      Related
      ENSP00000388741.1, ENST00000455816.1
      Conserved Domains (2) summary
      pfam12238
      Location:18 → 56
      MSA-2c; Merozoite surface antigen 2c
      pfam15662
      Location:1 → 191
      SPATA3; Spermatogenesis-associated protein 3 family

    3. XM_047443397.1 → XP_047299353.1  spermatogenesis-associated protein 3 isoform X1

    4. XM_005246303.3 → XP_005246360.1  spermatogenesis-associated protein 3 isoform X2

      See identical proteins and their annotated locations for XP_005246360.1

      UniProtKB/Swiss-Prot
      Q86WX5, Q8N9Y6, Q8NHX4
      Conserved Domains (2) summary
      pfam12238
      Location:18 → 56
      MSA-2c; Merozoite surface antigen 2c
      pfam15662
      Location:1 → 191
      SPATA3; Spermatogenesis-associated protein 3 family

    RNA

    1. XR_007069642.1 RNA Sequence

    2. XR_007069640.1 RNA Sequence

    3. XR_001738624.3 RNA Sequence

    4. XR_001738628.2 RNA Sequence

    5. XR_002959241.2 RNA Sequence

    6. XR_001738627.3 RNA Sequence

    7. XR_007069639.1 RNA Sequence

    8. XR_922856.3 RNA Sequence

    9. XR_007069641.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      231479391..231504484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340544.1 → XP_054196519.1  spermatogenesis-associated protein 3 isoform X1

    2. XM_054340546.1 → XP_054196521.1  spermatogenesis-associated protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q86WX5, Q8N9Y6, Q8NHX4

    3. XM_054340543.1 → XP_054196518.1  spermatogenesis-associated protein 3 isoform X1

    4. XM_054340545.1 → XP_054196520.1  spermatogenesis-associated protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q86WX5, Q8N9Y6, Q8NHX4

    RNA

    1. XR_008486276.1 RNA Sequence

    2. XR_008486277.1 RNA Sequence

    3. XR_008486278.1 RNA Sequence

    4. XR_008486281.1 RNA Sequence

    5. XR_008486282.1 RNA Sequence

    6. XR_008486279.1 RNA Sequence

    7. XR_008486275.1 RNA Sequence

    8. XR_008486280.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHX4.2 GenPept UniProtKB/Swiss-Prot:Q8NHX4

    Gene LinkOut

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

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