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

Gene ID: 221409, updated on 5-Mar-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
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Genomic context

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Location:
6p21.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44342650..44380179)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44177430..44214924)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44310387..44347916)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase I and III subunit C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17263 Neighboring gene uncharacterized LOC124901322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:44280829-44281388 Neighboring gene transmembrane protein 151B Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91950 Neighboring gene t-complex-associated-testis-expressed 1 Neighboring gene uncharacterized LOC124901323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24638 Neighboring gene alanyl-tRNA synthetase 2, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24640 Neighboring gene cell division cycle 5 like 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. 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
  4. 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
  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)

Genotypes

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_2023_10

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.

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