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Aliases for SPATA5L1 Gene

Aliases for SPATA5L1 Gene

  • Spermatogenesis Associated 5 Like 1 2 3
  • Spermatogenesis Associated 5-Like 1 5
  • EC 1.1.1.100 63
  • EC 3.4.24 63

External Ids for SPATA5L1 Gene

Previous GeneCards Identifiers for SPATA5L1 Gene

  • GC15P043411
  • GC15P043481
  • GC15P045694
  • GC15P022518

Summaries for SPATA5L1 Gene

GeneCards Summary for SPATA5L1 Gene

SPATA5L1 (Spermatogenesis Associated 5 Like 1) is a Protein Coding gene. Diseases associated with SPATA5L1 include chediak-higashi syndrome. GO annotations related to this gene include ATPase activity and four-way junction helicase activity. An important paralog of this gene is VCP.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA5L1 Gene

Genomics for SPATA5L1 Gene

Regulatory Elements for SPATA5L1 Gene

Promoters for SPATA5L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPATA5L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPATA5L1 Gene

Chromosome:
15
Start:
45,402,273 bp from pter
End:
45,421,419 bp from pter
Size:
19,147 bases
Orientation:
Plus strand

Genomic View for SPATA5L1 Gene

Genes around SPATA5L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA5L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA5L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA5L1 Gene

Proteins for SPATA5L1 Gene

  • Protein details for SPATA5L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVQ7-SPA5L_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 5-like protein 1
    Protein Accession:
    Q9BVQ7
    Secondary Accessions:
    • C9JHR5
    • Q9H8W7
    • Q9HA41

    Protein attributes for SPATA5L1 Gene

    Size:
    753 amino acids
    Molecular mass:
    80710 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SPATA5L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATA5L1 Gene

Proteomics data for SPATA5L1 Gene at MOPED

Selected DME Specific Peptides for SPATA5L1 Gene

Post-translational modifications for SPATA5L1 Gene

  • Ubiquitination at Lys 48, Lys 247, Lys 372, Lys 485, Lys 499, Lys 511, Lys 577, and Lys 600
  • Modification sites at PhosphoSitePlus

Other Protein References for SPATA5L1 Gene

Antibody Products

Domains & Families for SPATA5L1 Gene

Gene Families for SPATA5L1 Gene

Protein Domains for SPATA5L1 Gene

Suggested Antigen Peptide Sequences for SPATA5L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BVQ7

UniProtKB/Swiss-Prot:

SPA5L_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 SPATA5L1: view

Function for SPATA5L1 Gene

Enzyme Numbers (IUBMB) for SPATA5L1 Gene

genes like me logo Genes that share phenotypes with SPATA5L1: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPATA5L1 Gene

Localization for SPATA5L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA5L1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPATA5L1 Gene COMPARTMENTS Subcellular localization image for SPATA5L1 gene
Compartment Confidence
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for SPATA5L1 Gene

Pathways & Interactions for SPATA5L1 Gene

SuperPathways for SPATA5L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATA5L1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPATA5L1 Gene

Drugs & Compounds for SPATA5L1 Gene

No Compound Related Data Available

Transcripts for SPATA5L1 Gene

Unigene Clusters for SPATA5L1 Gene

Spermatogenesis associated 5-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA5L1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: -
SP3: - -
SP4: - - -
SP5:
SP6: - -

Relevant External Links for SPATA5L1 Gene

GeneLoc Exon Structure for
SPATA5L1
ECgene alternative splicing isoforms for
SPATA5L1

Expression for SPATA5L1 Gene

mRNA expression in normal human tissues for SPATA5L1 Gene

Protein differential expression in normal tissues from HIPED for SPATA5L1 Gene

This gene is overexpressed in Placenta (40.7) and Bone marrow stromal cell (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPATA5L1 Gene



SOURCE GeneReport for Unigene cluster for SPATA5L1 Gene Hs.369657

genes like me logo Genes that share expression patterns with SPATA5L1: view

Protein tissue co-expression partners for SPATA5L1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPATA5L1 Gene

Orthologs for SPATA5L1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPATA5L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPATA5L1 35
  • 86.63 (n)
  • 84.86 (a)
SPATA5L1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPATA5L1 35
  • 87.43 (n)
  • 88.18 (a)
SPATA5L1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spata5l1 35
  • 81.97 (n)
  • 80.89 (a)
Spata5l1 16
chimpanzee
(Pan troglodytes)
Mammalia SPATA5L1 35
  • 96.72 (n)
  • 94.69 (a)
SPATA5L1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spata5l1 35
  • 80.93 (n)
  • 80.35 (a)
oppossum
(Monodelphis domestica)
Mammalia SPATA5L1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATA5L1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA5L1 35
  • 66.8 (n)
  • 64.28 (a)
SPATA5L1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPATA5L1 36
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii spata5l1 35
  • 56.59 (n)
  • 54.29 (a)
spata5l1 36
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12010 36
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG2 36
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CDC48B 35
  • 50.26 (n)
  • 45.02 (a)
rice
(Oryza sativa)
Liliopsida Os05g0376200 35
  • 51.35 (n)
  • 47.11 (a)
Species with no ortholog for SPATA5L1:
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPATA5L1 Gene

ENSEMBL:
Gene Tree for SPATA5L1 (if available)
TreeFam:
Gene Tree for SPATA5L1 (if available)

Paralogs for SPATA5L1 Gene

Paralogs for SPATA5L1 Gene

(10) SIMAP similar genes for SPATA5L1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SPATA5L1: view

Variants for SPATA5L1 Gene

Sequence variations from dbSNP and Humsavar for SPATA5L1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1153850 - 45,402,785(-) CTGCC(C/G)GCTCT nc-transcript-variant, reference, missense
rs16943025 - 45,415,716(+) TCCTG(A/G)ATGAA nc-transcript-variant, reference, missense
rs7182723 - 45,403,184(+) GGTGC(A/G/T)GGCCG nc-transcript-variant, reference, missense
rs1145072 -- 45,416,287(-) ccttt(A/G)ttttt intron-variant
rs1145073 -- 45,413,373(+) acccc(A/G)gggat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA5L1 Gene

Variant ID Type Subtype PubMed ID
nsv469721 CNV Complex 16826518

Variation tolerance for SPATA5L1 Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.62; 95.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA5L1 Gene

HapMap Linkage Disequilibrium report
SPATA5L1
Human Gene Mutation Database (HGMD)
SPATA5L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA5L1 Gene

Disorders for SPATA5L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPATA5L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chediak-higashi syndrome
  • chediak - steinbrinck anomaly
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPATA5L1

Genetic Association Database (GAD)
SPATA5L1
Human Genome Epidemiology (HuGE) Navigator
SPATA5L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA5L1
genes like me logo Genes that share disorders with SPATA5L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPATA5L1 Gene

Publications for SPATA5L1 Gene

  1. Multiple loci associated with indices of renal function and chronic kidney disease. (PMID: 19430482) KAPttgen A. … Fox C.S. (Nat. Genet. 2009) 3 48 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Proteome analysis of the HIV-1 Gag interactome. (PMID: 25010285) Engeland C.E. … KrAousslich H.G. (Virology 2014) 3

Products for SPATA5L1 Gene

Sources for SPATA5L1 Gene

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