Aliases for SPATS1 Gene

Aliases for SPATS1 Gene

  • Spermatogenesis Associated Serine Rich 1 2 3 5
  • Spermatogenesis-Associated Serine-Rich Protein 1 3 4
  • SPATA8 2 3
  • SRSP1 2 3
  • Spermatogenesis Associated, Serine-Rich 1 2
  • FLJ25442 2
  • SPATS1 5
  • DDIP 3

External Ids for SPATS1 Gene

Previous GeneCards Identifiers for SPATS1 Gene

  • GC06P044311
  • GC06P044358
  • GC06P044359
  • GC06P044418
  • GC06P044033

Summaries for SPATS1 Gene

GeneCards Summary for SPATS1 Gene

SPATS1 (Spermatogenesis Associated Serine Rich 1) is a Protein Coding gene. Diseases associated with SPATS1 include Short Syndrome.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPATS1 Gene

Genomics for SPATS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPATS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPATS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPATS1

Top Transcription factor binding sites by QIAGEN in the SPATS1 gene promoter:
  • ATF-2
  • CUTL1
  • E47
  • FOXO1
  • FOXO1a
  • HSF1 (long)
  • HSF1short
  • RREB-1
  • Tal-1
  • TBP

Genomic Locations for SPATS1 Gene

Latest Assembly
chr6:44,342,650-44,380,179
(GRCh38/hg38)
Size:
37,530 bases
Orientation:
Plus strand

Previous Assembly
chr6:44,310,387-44,347,916
(GRCh37/hg19 by Entrez Gene)
Size:
37,530 bases
Orientation:
Plus strand

chr6:44,310,397-44,344,904
(GRCh37/hg19 by Ensembl)
Size:
34,508 bases
Orientation:
Plus strand

Genomic View for SPATS1 Gene

Genes around SPATS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATS1 Gene

Proteins for SPATS1 Gene

  • Protein details for SPATS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q496A3-SPAS1_HUMAN
    Recommended name:
    Spermatogenesis-associated serine-rich protein 1
    Protein Accession:
    Q496A3
    Secondary Accessions:
    • Q496A2
    • Q496A5
    • Q96LJ0

    Protein attributes for SPATS1 Gene

    Size:
    300 amino acids
    Molecular mass:
    33705 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for SPATS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATS1 Gene

Post-translational modifications for SPATS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPATS1 Gene

No data available for DME Specific Peptides for SPATS1 Gene

Domains & Families for SPATS1 Gene

Gene Families for SPATS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPATS1 Gene

InterPro:

Suggested Antigen Peptide Sequences for SPATS1 Gene

GenScript: Design optimal peptide antigens:
  • Spermatogenesis-associated serine-rich protein 1 (SPAS1_HUMAN)
genes like me logo Genes that share domains with SPATS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPATS1 Gene

Function for SPATS1 Gene

Phenotypes From GWAS Catalog for SPATS1 Gene

Gene Ontology (GO) - Molecular Function for SPATS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with SPATS1: view
genes like me logo Genes that share phenotypes with SPATS1: view

Animal Models for SPATS1 Gene

MGI Knock Outs for SPATS1:
  • Spats1 Spats1<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATS1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SPATS1 Gene

Localization for SPATS1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPATS1 gene
Compartment Confidence
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SPATS1 Gene

Pathways & Interactions for SPATS1 Gene

PathCards logo

SuperPathways for SPATS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATS1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPATS1 Gene

Drugs & Compounds for SPATS1 Gene

No Compound Related Data Available

Transcripts for SPATS1 Gene

mRNA/cDNA for SPATS1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATS1

Alternative Splicing Database (ASD) splice patterns (SP) for SPATS1 Gene

No ASD Table

Relevant External Links for SPATS1 Gene

GeneLoc Exon Structure for
SPATS1

Expression for SPATS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPATS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for SPATS1 Gene

This gene is overexpressed in Testis (x42.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPATS1

SOURCE GeneReport for Unigene cluster for SPATS1 Gene:

Hs.135283
genes like me logo Genes that share expression patterns with SPATS1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATS1 Gene

Orthologs for SPATS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPATS1 29 30
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPATS1 29 30
  • 85.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPATS1 29
  • 82.6 (n)
Mouse
(Mus musculus)
Mammalia Spats1 29 16 30
  • 76.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Spats1 29
  • 75.24 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SPATS1 30
  • 48 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SPATS1 30
  • 40 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100497327 29
  • 51.45 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 28 (a)
OneToOne
Species where no ortholog for SPATS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SPATS1 Gene

ENSEMBL:
Gene Tree for SPATS1 (if available)
TreeFam:
Gene Tree for SPATS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPATS1: view image
Alliance of Genome Resources:
Additional Orthologs for SPATS1

Paralogs for SPATS1 Gene

No data available for Paralogs for SPATS1 Gene

Variants for SPATS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPATS1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs10948132 -- p.Gly8Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPATS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SPATS1 Gene

Variant ID Type Subtype PubMed ID
esv2656645 CNV deletion 23128226
esv3567728 CNV deletion 23714750
esv3608827 CNV loss 21293372
esv3608828 CNV loss 21293372
esv3608829 CNV loss 21293372
nsv1019145 CNV gain 25217958

Variation tolerance for SPATS1 Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.46; 77.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATS1
Leiden Open Variation Database (LOVD)
SPATS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATS1 Gene

Disorders for SPATS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPATS1 Gene - From: COP

Disorder Aliases PubMed IDs
short syndrome
  • short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPATS1

genes like me logo Genes that share disorders with SPATS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATS1 Gene

Publications for SPATS1 Gene

  1. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. (PMID: 31391242) Nowak M … Sommer T (Journal of cell science 2019) 3
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3

Products for SPATS1 Gene

Sources for SPATS1 Gene