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    SPATS1 spermatogenesis associated serine rich 1 [ Homo sapiens (human) ]

    Gene ID: 221409, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SPATS1provided by HGNC
    Official Full Name
    spermatogenesis associated serine rich 1provided by HGNC
    Primary source
    HGNC:HGNC:22957
    See related
    Ensembl:ENSG00000249481 AllianceGenome:HGNC:22957
    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
    DDIP; SRSP1; SPATA8
    Expression
    Restricted expression toward testis (RPKM 12.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPATS1 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44342650..44380179)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44177430..44214924)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44310387..44347916)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 151B Neighboring gene t-complex-associated-testis-expressed 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17263 Neighboring gene uncharacterized LOC124901322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:44280829-44281388 Neighboring gene alanyl-tRNA synthetase 2, mitochondrial Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91950 Neighboring gene uncharacterized LOC124901323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24638 Neighboring gene cell division cycle 5 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24640 Neighboring gene microRNA 4642

    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. Dishevelled-DEP domain interacting protein (DDIP) inhibits Wnt signaling by promoting TCF4 degradation and disrupting the TCF4/beta-catenin complex. Zhang H, et al. Cell Signal, 2010 Nov. PMID 20603214
    2. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    3. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article
    4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dishevelled-DEP domain interacting protein is a negative regulator of the canonical Wnt signaling.
      Title: Dishevelled-DEP domain interacting protein (DDIP) inhibits Wnt signaling by promoting TCF4 degradation and disrupting the TCF4/beta-catenin complex.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25442, MGC119210, MGC119211, MGC119212, MGC119213, MGC133020

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    spermatogenesis-associated serine-rich 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_001372081.1 → NP_001359010.1  spermatogenesis-associated serine-rich protein 1

      Status: VALIDATED

      Source sequence(s)
      AL353588
      Consensus CDS
      CCDS4911.1
      UniProtKB/Swiss-Prot
      Q496A2, Q496A3, Q496A5, Q96LJ0
      Related
      ENSP00000501191.1, ENST00000674044.1
      Conserved Domains (1) summary
      pfam15160
      Location:51 → 286
      SASRP1; Spermatogenesis-associated serine-rich protein 1

    2. NM_145026.4 → NP_659463.1  spermatogenesis-associated serine-rich protein 1

      See identical proteins and their annotated locations for NP_659463.1

      Status: VALIDATED

      Source sequence(s)
      AL353588
      Consensus CDS
      CCDS4911.1
      UniProtKB/Swiss-Prot
      Q496A2, Q496A3, Q496A5, Q96LJ0
      Related
      ENSP00000437552.1, ENST00000323108.12
      Conserved Domains (1) summary
      pfam15160
      Location:51 → 286
      SASRP1; Spermatogenesis-associated serine-rich protein 1

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      44342650..44380179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      44177430..44214924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q496A3.2 GenPept UniProtKB/Swiss-Prot:Q496A3

    Gene LinkOut

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

    Chemical Information
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