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Aliases for SPATA5 Gene

Aliases for SPATA5 Gene

  • Spermatogenesis Associated 5 2 3 5
  • Spermatogenesis-Associated Factor Protein 3 4
  • ATPase Family Protein 2 Homolog 3 4
  • AFG2 3 4
  • SPAF 3 4
  • ATPase Family Gene 2 Homolog (S. Cerevisiae) 2
  • Spermatogenesis Associated Factor SPAF 3
  • Spermatogenesis-Associated Protein 5 3
  • ATPase Family Gene 2 Homolog 3
  • EHLMRS 3

External Ids for SPATA5 Gene

Previous GeneCards Identifiers for SPATA5 Gene

  • GC00U991164
  • GC04P124123
  • GC04P124237
  • GC04P124303
  • GC04P124201
  • GC04P123844
  • GC04P119570

Summaries for SPATA5 Gene

GeneCards Summary for SPATA5 Gene

SPATA5 (Spermatogenesis Associated 5) is a Protein Coding gene. Diseases associated with SPATA5 include Epilepsy, Hearing Loss, And Mental Retardation Syndrome and Heart Conduction Disease. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is SPATA5L1.

UniProtKB/Swiss-Prot for SPATA5 Gene

  • May be involved in morphological and functional mitochondrial transformations during spermatogenesis.

Gene Wiki entry for SPATA5 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA5 Gene

Genomics for SPATA5 Gene

Regulatory Elements for SPATA5 Gene

Enhancers for SPATA5 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around SPATA5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPATA5 Gene

Chromosome:
4
Start:
122,923,070 bp from pter
End:
123,319,450 bp from pter
Size:
396,381 bases
Orientation:
Plus strand

Genomic View for SPATA5 Gene

Genes around SPATA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA5 Gene

Proteins for SPATA5 Gene

  • Protein details for SPATA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NB90-SPAT5_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 5
    Protein Accession:
    Q8NB90
    Secondary Accessions:
    • C9JT97
    • Q86XW1
    • Q8NI20
    • Q8TDL7

    Protein attributes for SPATA5 Gene

    Size:
    893 amino acids
    Molecular mass:
    97904 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SPATA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATA5 Gene

Post-translational modifications for SPATA5 Gene

  • Ubiquitination at Lys 189, Lys 311, Lys 374, Lys 380, Lys 461, Lys 693, and Lys 887
  • Modification sites at PhosphoSitePlus

Other Protein References for SPATA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPATA5 Gene

Domains & Families for SPATA5 Gene

Gene Families for SPATA5 Gene

Protein Domains for SPATA5 Gene

Suggested Antigen Peptide Sequences for SPATA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NB90

UniProtKB/Swiss-Prot:

SPAT5_HUMAN :
  • Belongs to the AAA ATPase family. AFG2 subfamily.
Family:
  • Belongs to the AAA ATPase family. AFG2 subfamily.
genes like me logo Genes that share domains with SPATA5: view

Function for SPATA5 Gene

Molecular function for SPATA5 Gene

UniProtKB/Swiss-Prot Function:
May be involved in morphological and functional mitochondrial transformations during spermatogenesis.

Gene Ontology (GO) - Molecular Function for SPATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SPATA5: view
genes like me logo Genes that share phenotypes with SPATA5: view

Human Phenotype Ontology for SPATA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPATA5 Gene

MGI Knock Outs for SPATA5:

Animal Model Products

CRISPR Products

miRNA for SPATA5 Gene

miRTarBase miRNAs that target SPATA5

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SPATA5 Gene

Localization for SPATA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA5 Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPATA5 Gene COMPARTMENTS Subcellular localization image for SPATA5 gene
Compartment Confidence
cytosol 4
mitochondrion 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for SPATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with SPATA5: view

Pathways & Interactions for SPATA5 Gene

genes like me logo Genes that share pathways with SPATA5: view

Pathways by source for SPATA5 Gene

1 KEGG pathway for SPATA5 Gene

Gene Ontology (GO) - Biological Process for SPATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0007420 brain development IMP 26299366
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SPATA5: view

No data available for SIGNOR curated interactions for SPATA5 Gene

Drugs & Compounds for SPATA5 Gene

No Compound Related Data Available

Transcripts for SPATA5 Gene

Unigene Clusters for SPATA5 Gene

Spermatogenesis associated 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - -
SP2: -
SP3:

Relevant External Links for SPATA5 Gene

GeneLoc Exon Structure for
SPATA5
ECgene alternative splicing isoforms for
SPATA5

Expression for SPATA5 Gene

mRNA expression in normal human tissues for SPATA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPATA5 Gene

This gene is overexpressed in Serum (40.2) and Lung (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPATA5 Gene



Protein tissue co-expression partners for SPATA5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPATA5 Gene:

SPATA5

SOURCE GeneReport for Unigene cluster for SPATA5 Gene:

Hs.709648
genes like me logo Genes that share expression patterns with SPATA5: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPATA5 Gene

Orthologs for SPATA5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPATA5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPATA5 34
  • 88.1 (n)
  • 86.39 (a)
SPATA5 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPATA5 34
  • 88.15 (n)
  • 86.55 (a)
SPATA5 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spata5 34
  • 85.35 (n)
  • 85.2 (a)
Spata5 16
Spata5 35
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPATA5 34
  • 99.51 (n)
  • 99.33 (a)
SPATA5 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spata5 34
  • 85.03 (n)
  • 84.71 (a)
oppossum
(Monodelphis domestica)
Mammalia SPATA5 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATA5 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA5 34
  • 69.68 (n)
  • 70 (a)
SPRY1 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPATA5 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spata5 34
  • 66.63 (n)
  • 66.47 (a)
Str.17777 34
zebrafish
(Danio rerio)
Actinopterygii LOC100332622 34
  • 61.4 (n)
  • 66.61 (a)
CABZ01085878.1 35
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012655 34
  • 50.43 (n)
  • 47.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5776 34
  • 53.68 (n)
  • 49.91 (a)
CG5776 35
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cdc-48.3 35
  • 35 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER065C 34
  • 50.06 (n)
  • 45.83 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG2 37
AFG2 35
  • 40 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9577 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for SPATA5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)

Evolution for SPATA5 Gene

ENSEMBL:
Gene Tree for SPATA5 (if available)
TreeFam:
Gene Tree for SPATA5 (if available)

Paralogs for SPATA5 Gene

Paralogs for SPATA5 Gene

(13) SIMAP similar genes for SPATA5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SPATA5: view

Variants for SPATA5 Gene

Sequence variations from dbSNP and Humsavar for SPATA5 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_042703 -
rs35133326 - 123,028,334(-) TTTTA(G/T)AGCAC reference, missense
rs745858366 Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) 122,927,721(+) AGGTC(A/G)ACCAG reference, missense
rs796051893 Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) 122,927,739(+) TACTA(G/T)TTTGA reference, missense
rs796051895 Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) 122,929,049(+) ATACA(A/G)CCTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SPATA5 Gene

Variant ID Type Subtype PubMed ID
dgv1022e214 CNV loss 21293372
dgv973e199 CNV deletion 23128226
esv2543745 CNV deletion 19546169
esv2673720 CNV deletion 23128226
esv275210 CNV loss 21479260
esv275520 CNV gain+loss 21479260
esv2759280 CNV gain 17122850
esv3304263 CNV mobile element insertion 20981092
esv3309644 CNV mobile element insertion 20981092
esv3399067 CNV insertion 20981092
esv3412493 CNV duplication 20981092
esv3602038 CNV loss 21293372
esv3602041 CNV loss 21293372
esv3894022 CNV gain 25118596
nsv1129249 CNV insertion 24896259
nsv1139302 CNV deletion 24896259
nsv4497 CNV deletion 18451855
nsv507197 OTHER sequence alteration 20534489
nsv508310 CNV deletion 20534489
nsv830046 CNV gain 17160897
nsv964093 CNV duplication 23825009

Variation tolerance for SPATA5 Gene

Residual Variation Intolerance Score: 7.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA5 Gene

Human Gene Mutation Database (HGMD)
SPATA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA5 Gene

Disorders for SPATA5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SPATA5 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, hearing loss, and mental retardation syndrome
  • microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
heart conduction disease
  • heart rhythm disease
intracranial embolism
  • cerebral embolism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPAT5_HUMAN
  • Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) [MIM:616577]: An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. {ECO:0000269 PubMed:26299366}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPATA5

Genetic Association Database (GAD)
SPATA5
Human Genome Epidemiology (HuGE) Navigator
SPATA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA5
genes like me logo Genes that share disorders with SPATA5: view

No data available for Genatlas for SPATA5 Gene

Publications for SPATA5 Gene

  1. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. (PMID: 26299366) Tanaka A.J. … Chung W.K. (Am. J. Hum. Genet. 2015) 3 4 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  3. FGF signaling inhibitor, SPRY4, is evolutionarily conserved target of WNT signaling pathway in progenitor cells. (PMID: 16465403) Katoh Y. … Katoh M. (Int. J. Mol. Med. 2006) 2 3 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 3 65

Products for SPATA5 Gene

Sources for SPATA5 Gene

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