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Aliases for SPATA17 Gene

Aliases for SPATA17 Gene

  • Spermatogenesis Associated 17 2 3 5
  • IQ Motif Containing H 2 3
  • Spermatogenesis-Associated Protein 17 3
  • Spermatogenesis-Related Protein 11 3
  • MSRG-11 3
  • MSRG11 3
  • IQCH 3

External Ids for SPATA17 Gene

Previous GeneCards Identifiers for SPATA17 Gene

  • GC01P215871
  • GC01P217804
  • GC01P188479

Summaries for SPATA17 Gene

GeneCards Summary for SPATA17 Gene

SPATA17 (Spermatogenesis Associated 17) is a Protein Coding gene. Diseases associated with SPATA17 include Ichthyosis, Congenital, Autosomal Recessive 11 and Autosomal Recessive Congenital Ichthyosis. GO annotations related to this gene include calmodulin binding.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA17 Gene

Genomics for SPATA17 Gene

Regulatory Elements for SPATA17 Gene

Enhancers for SPATA17 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G217659 1 Ensembl ENCODE 17.9 +29.6 29574 2.6 CTCF ZNF654 PKNOX1 BHLHE40 MAFG MNT RAD21 MAFF JUND GATA3 SPATA17 GPATCH2 GC01M217679
GH01G217629 1 ENCODE 8.7 -0.3 -324 2.2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 BRCA1 ZNF2 ZNF48 ZBTB7B YY1 SPATA17 GPATCH2 GC01P217564
GH01G217574 0.7 ENCODE 10.9 -56.5 -56541 0.1 FOXA2 RAD21 CTBP1 GATA3 NCOR1 HOMEZ CREM TCF7L2 MIXL1 GATAD2A GPATCH2 SPATA17 GC01P217564
GH01G217561 0.6 ENCODE 11.2 -68.6 -68628 2.2 DPF2 RAD21 FOXA1 ZNF579 JUND CTBP1 FOS FOSL2 SPATA17 GPATCH2 GC01P217564 PIR51093
GH01G217506 0.4 ENCODE 10.2 -124.1 -124149 1.6 SP7 SPATA17 GPATCH2 PIR51093 GC01P217458
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPATA17 on UCSC Golden Path with GeneCards custom track

Promoters for SPATA17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020110 -324 1601 PKNOX1 FOXA2 ARID4B SIN3A BRCA1 ZNF2 ZNF48 ZBTB7B YY1 ELK1

Genomic Location for SPATA17 Gene

Chromosome:
1
Start:
217,631,324 bp from pter
End:
217,871,696 bp from pter
Size:
240,373 bases
Orientation:
Plus strand

Genomic View for SPATA17 Gene

Genes around SPATA17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA17 Gene

Proteins for SPATA17 Gene

  • Protein details for SPATA17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L03-SPT17_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 17
    Protein Accession:
    Q96L03
    Secondary Accessions:
    • A5D6N2

    Protein attributes for SPATA17 Gene

    Size:
    361 amino acids
    Molecular mass:
    43499 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPATA17 Gene

Post-translational modifications for SPATA17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPATA17 Gene

No data available for DME Specific Peptides for SPATA17 Gene

Domains & Families for SPATA17 Gene

Protein Domains for SPATA17 Gene

Suggested Antigen Peptide Sequences for SPATA17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPATA17: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SPATA17 Gene

Function for SPATA17 Gene

Gene Ontology (GO) - Molecular Function for SPATA17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with SPATA17: view

Phenotypes for SPATA17 Gene

genes like me logo Genes that share phenotypes with SPATA17: view

Animal Model Products

CRISPR Products

miRNA for SPATA17 Gene

miRTarBase miRNAs that target SPATA17

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATA17 Gene

Localization for SPATA17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA17 Gene

Cytoplasm.

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 SPATA17 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for SPATA17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SPATA17: view

Pathways & Interactions for SPATA17 Gene

SuperPathways for SPATA17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATA17 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPATA17 Gene

Drugs & Compounds for SPATA17 Gene

No Compound Related Data Available

Transcripts for SPATA17 Gene

Unigene Clusters for SPATA17 Gene

Spermatogenesis associated 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA17 Gene

No ASD Table

Relevant External Links for SPATA17 Gene

GeneLoc Exon Structure for
SPATA17
ECgene alternative splicing isoforms for
SPATA17

Expression for SPATA17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPATA17 Gene

mRNA differential expression in normal tissues according to GTEx for SPATA17 Gene

This gene is overexpressed in Testis (x26.8).

Protein differential expression in normal tissues from HIPED for SPATA17 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPATA17 Gene



Protein tissue co-expression partners for SPATA17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPATA17 Gene:

SPATA17

SOURCE GeneReport for Unigene cluster for SPATA17 Gene:

Hs.171130

Evidence on tissue expression from TISSUES for SPATA17 Gene

  • Liver(4.8)
  • Blood(3.7)
  • Pancreas(3.7)
  • Adrenal gland(2.7)
  • Intestine(2.6)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with SPATA17: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA17 Gene

Orthologs for SPATA17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPATA17 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia SPATA17 34 35
  • 87.07 (n)
cow
(Bos Taurus)
Mammalia SPATA17 34
  • 83.47 (n)
mouse
(Mus musculus)
Mammalia Spata17 34 16 35
  • 77.38 (n)
rat
(Rattus norvegicus)
Mammalia Spata17 34
  • 76.64 (n)
oppossum
(Monodelphis domestica)
Mammalia SPATA17 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATA17 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA17 34 35
  • 67.22 (n)
lizard
(Anolis carolinensis)
Reptilia SPATA17 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spata17 34
  • 62.41 (n)
zebrafish
(Danio rerio)
Actinopterygii spata17 34 35
  • 54.65 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for SPATA17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • 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 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)

Evolution for SPATA17 Gene

ENSEMBL:
Gene Tree for SPATA17 (if available)
TreeFam:
Gene Tree for SPATA17 (if available)

Paralogs for SPATA17 Gene

Pseudogenes.org Pseudogenes for SPATA17 Gene

genes like me logo Genes that share paralogs with SPATA17: view

No data available for Paralogs for SPATA17 Gene

Variants for SPATA17 Gene

Sequence variations from dbSNP and Humsavar for SPATA17 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000012857 -- 217,699,515(+) AGAAC(C/T)GTCTT intron-variant
rs1000039363 -- 217,651,365(+) GAGAA(G/T)TGACC intron-variant
rs1000042834 -- 217,737,561(+) CAAAG(C/G)CTCTG intron-variant
rs1000056563 -- 217,789,111(+) ATTTT(A/G)ACTTA intron-variant
rs1000056813 -- 217,640,050(+) ATATT(C/T)ATTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA17 Gene

Variant ID Type Subtype PubMed ID
esv1000763 CNV insertion 20482838
esv1410169 CNV insertion 17803354
esv1474893 CNV deletion 17803354
esv2674631 CNV deletion 23128226
esv2722940 CNV deletion 23290073
esv2762166 CNV loss 21179565
esv3304574 CNV mobile element insertion 20981092
esv3305168 CNV mobile element insertion 20981092
esv3308331 CNV mobile element insertion 20981092
esv3322896 CNV insertion 20981092
esv3352301 CNV insertion 20981092
esv3396866 CNV insertion 20981092
esv3402578 CNV insertion 20981092
esv3546766 CNV deletion 23714750
esv3578434 CNV loss 25503493
esv3588849 CNV loss 21293372
esv3588850 CNV loss 21293372
esv3588851 CNV gain 21293372
esv3588853 CNV loss 21293372
esv8865 CNV loss 19470904
esv989721 CNV deletion 20482838
nsv1003999 CNV loss 25217958
nsv1005829 CNV gain 25217958
nsv1068863 CNV deletion 25765185
nsv1122447 CNV deletion 24896259
nsv1124604 CNV duplication 24896259
nsv1152188 CNV deletion 26484159
nsv468183 CNV loss 19166990
nsv472635 CNV novel sequence insertion 20440878
nsv477649 CNV novel sequence insertion 20440878
nsv477696 CNV novel sequence insertion 20440878
nsv523504 CNV loss 19592680
nsv549216 CNV loss 21841781
nsv549217 CNV loss 21841781
nsv945292 CNV duplication 23825009
nsv957430 CNV deletion 24416366

Variation tolerance for SPATA17 Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.03; 60.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA17 Gene

Disorders for SPATA17 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPATA17 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ichthyosis, congenital, autosomal recessive 11
  • autosomal recessive congenital ichthyosis 11
autosomal recessive congenital ichthyosis
  • arci
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPATA17

Genetic Association Database (GAD)
SPATA17
Human Genome Epidemiology (HuGE) Navigator
SPATA17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA17
genes like me logo Genes that share disorders with SPATA17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA17 Gene

Publications for SPATA17 Gene

  1. Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers. (PMID: 19680270) Nakabayashi K. … Shirasawa S. (J. Hum. Genet. 2009) 3 46 64
  2. A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest. (PMID: 19483714) Miyamoto T. … Sengoku K. (Asian J. Androl. 2009) 3 46 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Expression and identification of a novel apoptosis gene Spata17 (MSRG-11) in mouse spermatogenic cells. (PMID: 16395525) Deng Y. … Lu G.X. (Acta Biochim. Biophys. Sin. (Shanghai) 2006) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for SPATA17 Gene

Sources for SPATA17 Gene

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