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Aliases for SPATA5L1 Gene

Aliases for SPATA5L1 Gene

  • Spermatogenesis Associated 5 Like 1 2 3 5
  • EC 1.1.1.100 58
  • EC 3.4.24 58

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 SPATA5.

Additional gene information for SPATA5L1 Gene

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 SPATA5L1 Gene

Genomics for SPATA5L1 Gene

Regulatory Elements for SPATA5L1 Gene

Enhancers for SPATA5L1 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
GH15H045375 1.4 Ensembl ENCODE dbSUPER 48.8 -24.5 -24474 3.8 TBL1XR1 RB1 SIN3A RAD21 ZNF143 ZNF207 FOS RUNX3 IKZF2 USF2 LOC100533853 SPATA5L1 ENSG00000259539 DUOX2 ENSG00000275672 GC15P045361 GC15P045362
GH15H045400 1.1 ENCODE 59.6 +0.4 431 3.4 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207 SPATA5L1 CTDSPL2 SPG11 C15orf48 ENSG00000259563 RNU7-5P SQOR DUOX2 GATM
GH15H045391 1.6 FANTOM5 Ensembl ENCODE dbSUPER 38.2 -10.0 -9971 1.8 MAX BACH1 BATF RELA EED ATF7 ETV6 RUNX3 IKZF2 CREM LOC100533853 SPATA5L1 C15orf48 DUOX1 DUOXA1 BLOC1S6 PIR55932
GH15H045385 1.2 ENCODE dbSUPER 38.2 -15.2 -15150 2.6 FOXA2 ATF1 MLX ARID4B FEZF1 YY1 TSHZ1 REST MIER2 PPARG SPATA5L1 LOC100533853 SLC28A2 DUOX1 DUOXA1 PIR55932
GH15H045393 1 ENCODE dbSUPER 39.4 -8.2 -8216 0.2 SOX13 CTCF SAP130 ARID4B CEBPG RAD21 TEAD3 ZNF26 ZNF143 NR2F6 SPATA5L1 CTDSPL2 DUOX1 DUOXA1 PIR55932
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPATA5L1 on UCSC Golden Path with GeneCards custom track

Promoters for SPATA5L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076028 527 2801 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207

Genomic Locations for SPATA5L1 Gene

Genomic Locations for SPATA5L1 Gene
chr15:45,402,273-45,421,419
(GRCh38/hg38)
Size:
19,147 bases
Orientation:
Plus strand
chr15:45,694,519-45,713,617
(GRCh37/hg19)

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

Selected DME Specific Peptides for SPATA5L1 Gene

Q9BVQ7:
  • TNRPDVLD
  • ARELASRG

Post-translational modifications for SPATA5L1 Gene

  • Ubiquitination at posLast=4848, Lys247, posLast=372372, Lys485, posLast=499499, Lys511, Lys577, and Lys600
  • Modification sites at PhosphoSitePlus

Other Protein References for SPATA5L1 Gene

Domains & Families for SPATA5L1 Gene

Gene Families for SPATA5L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog for SPATA5L1 Gene

Gene Ontology (GO) - Molecular Function for SPATA5L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SPATA5L1: view
genes like me logo Genes that share phenotypes with SPATA5L1: view

Clone Products

No data available for 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
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 SPATA5L1 gene
Compartment Confidence
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPATA5L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SPATA5L1: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SPATA5L1 Gene



Protein tissue co-expression partners for SPATA5L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPATA5L1 Gene:

SPATA5L1

SOURCE GeneReport for Unigene cluster for SPATA5L1 Gene:

Hs.369657
genes like me logo Genes that share expression patterns with SPATA5L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SPATA5L1 33 34
  • 96.72 (n)
dog
(Canis familiaris)
Mammalia SPATA5L1 33 34
  • 87.43 (n)
cow
(Bos Taurus)
Mammalia SPATA5L1 34 33
  • 86.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Spata5l1 33 16
  • 81.97 (n)
rat
(Rattus norvegicus)
Mammalia Spata5l1 33
  • 80.93 (n)
oppossum
(Monodelphis domestica)
Mammalia SPATA5L1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATA5L1 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA5L1 34 33
  • 66.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPATA5L1 34
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii spata5l1 33 34
  • 56.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12010 34
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG2 34
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CDC48B 33
  • 50.26 (n)
rice
(Oryza sativa)
Liliopsida Os05g0376200 33
  • 51.35 (n)
Species where no ortholog for SPATA5L1 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)
  • 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
rs1000113778 -- 45,419,343(+) AGTAG(G/T)CCCAG intron-variant
rs1000290783 -- 45,406,810(+) CACTT(C/T)CTTTC intron-variant
rs1000363817 -- 45,399,856(+) ATTCA(C/T)AGAAT intron-variant, upstream-variant-2KB
rs1000373680 -- 45,400,229(+) ATAAA(A/T)AAAAT intron-variant, nc-transcript-variant
rs1000413483 -- 45,412,185(+) ATCAC(G/T)AGGTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv569315 CNV gain 21841781
nsv469721 CNV gain 16826518
nsv1160292 CNV duplication 26073780
esv3892684 CNV gain 25118596
esv3569553 CNV gain 25503493

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

Human Gene Mutation Database (HGMD)
SPATA5L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD and 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) Köttgen A … Fox CS (Nature genetics 2009) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60

Products for SPATA5L1 Gene

Sources for SPATA5L1 Gene

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