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Aliases for SPATA6 Gene

Aliases for SPATA6 Gene

  • Spermatogenesis Associated 6 2 3 5
  • Spermatogenesis-Related Factor-1 2 3
  • Spermatogenesis-Associated Protein 6 3
  • Testicular Tissue Protein Li 178 3
  • SRF-1 3
  • HASH 3
  • SRF1 3

External Ids for SPATA6 Gene

Previous GeneCards Identifiers for SPATA6 Gene

  • GC01M048388
  • GC01M047653
  • GC01M048085
  • GC01M048134
  • GC01M048476
  • GC01M048536
  • GC01M048763
  • GC01M046877

Summaries for SPATA6 Gene

GeneCards Summary for SPATA6 Gene

SPATA6 (Spermatogenesis Associated 6) is a Protein Coding gene. An important paralog of this gene is SPATA6L.

UniProtKB/Swiss-Prot for SPATA6 Gene

  • Required for formation of the sperm connecting piece during spermiogenesis. Sperm connecting piece is essential for linking the developing flagellum to the head during late spermiogenesis. May be involved in myosin-based microfilament transport through interaction with myosin subunits.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA6 Gene

Genomics for SPATA6 Gene

Regulatory Elements for SPATA6 Gene

Enhancers for SPATA6 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
GH01G048049 0.9 FANTOM5 ENCODE 4.9 +421.8 421792 1.4 GLIS1 ZNF600 PRDM10 NR3C1 WT1 TCF7L2 ENSG00000226133 SPATA6 PPP1R8P1 GC01M048001
GH01G048572 1 FANTOM5 ENCODE 1.5 -100.6 -100563 0.3 CTCF ZNF654 ZSCAN4 FEZF1 REST RAD21 ZFHX2 JUND ZNF692 GLIS1 BEND5 SPATA6 GC01M048581 GC01P048499
GH01G048851 0.4 FANTOM5 2.3 -379.8 -379766 0.1 JUND SPATA6 BEND5 GC01P048862 GC01P048826
GH01G048468 1 ENCODE 0.7 +1.2 1217 4.0 FOXA2 ATF1 SIN3A YY1 GLIS2 ELK1 KLF7 SP3 TSHZ1 ZNF518A ENSG00000272491 SLC5A9 SPATA6 GC01M048426
GH01G048493 1 Ensembl ENCODE 0.3 -22.2 -22170 2.6 TBP TFAP4 FEZF1 ZIC2 ZNF644 TEAD3 ZSCAN5C FOS PRDM10 NR2F6 ENSG00000272491 SLC5A9 SKINT1L RPL21P25 SPATA6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPATA6 on UCSC Golden Path with GeneCards custom track

Promoters for SPATA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006139 108 1401 FOXA2 ATF1 SIN3A GLIS2 ELK1 KLF7 SP3 TSHZ1 ZNF518A MBD2

Genomic Location for SPATA6 Gene

Chromosome:
1
Start:
48,260,553 bp from pter
End:
48,472,208 bp from pter
Size:
211,656 bases
Orientation:
Minus strand

Genomic View for SPATA6 Gene

Genes around SPATA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA6 Gene

Proteins for SPATA6 Gene

  • Protein details for SPATA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWH7-SPAT6_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 6
    Protein Accession:
    Q9NWH7
    Secondary Accessions:
    • Q5T3N7
    • Q8WUE6

    Protein attributes for SPATA6 Gene

    Size:
    488 amino acids
    Molecular mass:
    55989 Da
    Quaternary structure:
    • Interacts with MYL6.

    Alternative splice isoforms for SPATA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATA6 Gene

Post-translational modifications for SPATA6 Gene

  • Glycosylation at isoforms=2181
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPATA6 Gene

Domains & Families for SPATA6 Gene

Protein Domains for SPATA6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPATA6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NWH7

UniProtKB/Swiss-Prot:

SPAT6_HUMAN :
  • Belongs to the SPATA6 family.
Family:
  • Belongs to the SPATA6 family.
genes like me logo Genes that share domains with SPATA6: view

No data available for Gene Families for SPATA6 Gene

Function for SPATA6 Gene

Molecular function for SPATA6 Gene

UniProtKB/Swiss-Prot Function:
Required for formation of the sperm connecting piece during spermiogenesis. Sperm connecting piece is essential for linking the developing flagellum to the head during late spermiogenesis. May be involved in myosin-based microfilament transport through interaction with myosin subunits.

Gene Ontology (GO) - Molecular Function for SPATA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032027 myosin light chain binding IEA --
genes like me logo Genes that share ontologies with SPATA6: view
genes like me logo Genes that share phenotypes with SPATA6: view

Animal Models for SPATA6 Gene

MGI Knock Outs for SPATA6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPATA6 Gene

Localization for SPATA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA6 Gene

Secreted. Cell projection, cilium, flagellum. Note=Specifically localizes to the segmented columns and the capitulum of the sperm connecting piece. {ECO:0000250 UniProtKB:Q3U6K5}.

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 SPATA6 gene
Compartment Confidence
extracellular 4
cytosol 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPATA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0042995 cell projection IEA --
GO:0097224 sperm connecting piece ISS --
genes like me logo Genes that share ontologies with SPATA6: view

Pathways & Interactions for SPATA6 Gene

SuperPathways for SPATA6 Gene

No Data Available

Interacting Proteins for SPATA6 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000360913%0d%0a9606.ENSP00000265960%0d%0a9606.ENSP00000354558%0d%0a
Selected Interacting proteins: Q9NWH7-SPAT6_HUMAN ENSP00000360913 for SPATA6 Gene via IID STRING

Gene Ontology (GO) - Biological Process for SPATA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis ISS --
GO:0030154 cell differentiation IEA --
GO:0044458 motile cilium assembly ISS --
genes like me logo Genes that share ontologies with SPATA6: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA6 Gene

Transcripts for SPATA6 Gene

Unigene Clusters for SPATA6 Gene

Spermatogenesis associated 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA6 Gene

No ASD Table

Relevant External Links for SPATA6 Gene

GeneLoc Exon Structure for
SPATA6
ECgene alternative splicing isoforms for
SPATA6

Expression for SPATA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPATA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPATA6 Gene

This gene is overexpressed in Testis (x6.9).

Protein differential expression in normal tissues from HIPED for SPATA6 Gene

This gene is overexpressed in Testis (68.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPATA6 Gene



Protein tissue co-expression partners for SPATA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPATA6 Gene:

SPATA6

SOURCE GeneReport for Unigene cluster for SPATA6 Gene:

Hs.538103

Evidence on tissue expression from TISSUES for SPATA6 Gene

  • Nervous system(3.5)
  • Lung(2.7)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with SPATA6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA6 Gene

Orthologs for SPATA6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPATA6 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia SPATA6 34 35
  • 94.66 (n)
cow
(Bos Taurus)
Mammalia SPATA6 34 35
  • 92.62 (n)
rat
(Rattus norvegicus)
Mammalia Spata6 34
  • 90.51 (n)
mouse
(Mus musculus)
Mammalia Spata6 34 16 35
  • 90.37 (n)
oppossum
(Monodelphis domestica)
Mammalia SPATA6 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATA6 35
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA6 34 35
  • 63.97 (n)
lizard
(Anolis carolinensis)
Reptilia SPATA6 35
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33502 34
zebrafish
(Danio rerio)
Actinopterygii spata6 34 35
  • 49.22 (n)
Species where no ortholog for SPATA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPATA6 Gene

ENSEMBL:
Gene Tree for SPATA6 (if available)
TreeFam:
Gene Tree for SPATA6 (if available)

Paralogs for SPATA6 Gene

Paralogs for SPATA6 Gene

(1) SIMAP similar genes for SPATA6 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SPATA6: view

Variants for SPATA6 Gene

Sequence variations from dbSNP and Humsavar for SPATA6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000004079 -- 48,286,037(+) GTCTG(C/T)TTTTA intron-variant
rs1000035303 -- 48,286,351(+) ATCAA(A/T)GTTTT intron-variant
rs1000038163 -- 48,368,956(+) GTGAT(G/T)TACAG intron-variant
rs1000038505 -- 48,440,758(+) CCTAA(A/T)AGATA intron-variant
rs1000041328 -- 48,360,200(+) ATCAG(-/A)AAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA6 Gene

Variant ID Type Subtype PubMed ID
esv2566377 CNV deletion 19546169
esv2762139 CNV loss 21179565
esv3387404 CNV insertion 20981092
esv3578249 CNV gain 25503493
esv3585965 CNV loss 21293372
esv3585966 CNV loss 21293372
esv3585968 CNV loss 21293372
esv3585970 CNV loss 21293372
nsv1008621 CNV loss 25217958
nsv1011588 CNV gain 25217958
nsv1013615 CNV loss 25217958
nsv461461 CNV gain 19166990
nsv508182 CNV deletion 20534489
nsv546192 CNV gain 21841781
nsv945931 CNV duplication 23825009

Variation tolerance for SPATA6 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.83; 93.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA6 Gene

Disorders for SPATA6 Gene

Relevant External Links for SPATA6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA6

No disorders were found for SPATA6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPATA6 Gene

Publications for SPATA6 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin- containing protein/p97 during capacitation. (PMID: 12509440) Ficarro S. … Visconti P.E. (J. Biol. Chem. 2003) 3 4 64
  5. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3 64

Products for SPATA6 Gene

Sources for SPATA6 Gene

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