Aliases for STAMBPL1 Gene

Aliases for STAMBPL1 Gene

  • STAM Binding Protein Like 1 2 3 5
  • AMSH-LP 2 3 4
  • Associated Molecule With The SH3 Domain Of STAM (AMSH) - Family Protein 2 3
  • Associated Molecule With The SH3 Domain Of STAM (AMSH) Like Protein 2 3
  • AMSH-Like Protease 3 4
  • BA399O19.2 2 3
  • ALMalpha 2 3
  • KIAA1373 2 4
  • AMSH-FP 2 3
  • STAM Binding Protein-Like 1 2
  • STAM-Binding Protein-Like 1 4
  • EC 3.1.2.15 50
  • EC 3.4.19.- 4
  • STAMBPL1 5
  • FLJ31524 2
  • AMSHLP 4

External Ids for STAMBPL1 Gene

Previous GeneCards Identifiers for STAMBPL1 Gene

  • GC10P090630
  • GC10P084274

Summaries for STAMBPL1 Gene

GeneCards Summary for STAMBPL1 Gene

STAMBPL1 (STAM Binding Protein Like 1) is a Protein Coding gene. Diseases associated with STAMBPL1 include Hermansky-Pudlak Syndrome 3 and Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Metalloprotease DUBs and Deubiquitination. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is STAMBP.

UniProtKB/Swiss-Prot Summary for STAMBPL1 Gene

  • Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains.

Gene Wiki entry for STAMBPL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAMBPL1 Gene

Genomics for STAMBPL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STAMBPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J088878 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 262.6 +4.8 4848 10.9 BCLAF1 ZNF207 ZNF600 JUND POLR2A ZNF223 ZNF10 ZSCAN16 ZBTB10 YY1 STAMBPL1 KIF20B RPL11P3 FAS ACTA2-AS1 LIPJ ENSG00000201548 RNLS LIPM LIPN
GH10J088832 Enhancer 1.3 FANTOM5 Ensembl ENCODE 17.8 -42.9 -42867 12.6 BCLAF1 ZNF654 ATF2 BRCA1 ZIC2 YY1 CTCF REST CEBPB DEK ANKRD22 STAMBPL1 FAS ACTA2-AS1 LIPM ENSG00000201548 LIPJ RNLS LIPF LIPN
GH10J088948 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +72.0 72020 5.6 YY1 FEZF1 CTCF RXRA PRDM6 SPI1 HNF4A JUND RAD21 ZNF518A ACTA2 lnc-ANKRD22-1 FAS CH25H STAMBPL1 LIPF HSALNG0079546
GH10J088850 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 11.7 -27.8 -27826 2.7 ZNF600 ATF2 JUND CEBPB SIX4 MAX ZNF217 ELF1 CTBP1 RFX5 ANKRD22 STAMBPL1 lnc-ACTA2-2 LIPM
GH10J088892 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.6 +19.0 18961 12.6 BCLAF1 ZNF580 CEBPA BCL11A CEBPB ZNF592 TRIM22 FEZF1 EP300 RXRA STAMBPL1 ACTA2-AS1 ANKRD22 FAS LIPM KIF20B LIPJ ENSG00000201548 RNLS IFIT1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STAMBPL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAMBPL1

Top Transcription factor binding sites by QIAGEN in the STAMBPL1 gene promoter:
  • C/EBPalpha
  • C/EBPbeta
  • GATA-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • RORalpha1
  • STAT5A

Genomic Locations for STAMBPL1 Gene

Latest Assembly
chr10:88,879,368-88,975,153
(GRCh38/hg38)
Size:
95,786 bases
Orientation:
Plus strand

Previous Assembly
chr10:90,640,002-90,683,244
(GRCh37/hg19 by Entrez Gene)
Size:
43,243 bases
Orientation:
Plus strand

chr10:90,639,491-90,734,910
(GRCh37/hg19 by Ensembl)
Size:
95,420 bases
Orientation:
Plus strand

Genomic View for STAMBPL1 Gene

Genes around STAMBPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAMBPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAMBPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAMBPL1 Gene

Proteins for STAMBPL1 Gene

  • Protein details for STAMBPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FJ0-STALP_HUMAN
    Recommended name:
    AMSH-like protease
    Protein Accession:
    Q96FJ0
    Secondary Accessions:
    • B3KPA7
    • Q5T9N4
    • Q5T9N9
    • Q7Z420
    • Q9P2H4

    Protein attributes for STAMBPL1 Gene

    Size:
    436 amino acids
    Molecular mass:
    49783 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92611.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for STAMBPL1 Gene

    Alternative splice isoforms for STAMBPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAMBPL1 Gene

Selected DME Specific Peptides for STAMBPL1 Gene

Q96FJ0:
  • ETCGILCGKL
  • SSVDLHTHCSYQ

Post-translational modifications for STAMBPL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

Domains & Families for STAMBPL1 Gene

Gene Families for STAMBPL1 Gene

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

Protein Domains for STAMBPL1 Gene

InterPro:
Blocks:
  • Mov34 family

Suggested Antigen Peptide Sequences for STAMBPL1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33359 fis, clone BRACE2005243, highly similar to AMSH-like protease (EC 3.1.2.15) (B3KR00_HUMAN)
  • STAM-binding protein-like 1 (STALP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96FJ0

UniProtKB/Swiss-Prot:

STALP_HUMAN :
  • The JAMM motif is essential for the protease activity.
  • Belongs to the peptidase M67C family.
Domain:
  • The JAMM motif is essential for the protease activity.
Family:
  • Belongs to the peptidase M67C family.
genes like me logo Genes that share domains with STAMBPL1: view

Function for STAMBPL1 Gene

Molecular function for STAMBPL1 Gene

UniProtKB/Swiss-Prot Function:
Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains.

Enzyme Numbers (IUBMB) for STAMBPL1 Gene

Phenotypes From GWAS Catalog for STAMBPL1 Gene

Gene Ontology (GO) - Molecular Function for STAMBPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0005515 protein binding IPI 21163940
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with STAMBPL1: view
genes like me logo Genes that share phenotypes with STAMBPL1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAMBPL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STAMBPL1 Gene

Localization for STAMBPL1 Gene

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 STAMBPL1 gene
Compartment Confidence
endosome 4
cytosol 4
nucleus 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STAMBPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA 21873635
GO:0005829 cytosol TAS --
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with STAMBPL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for STAMBPL1 Gene

Pathways & Interactions for STAMBPL1 Gene

genes like me logo Genes that share pathways with STAMBPL1: view

Pathways by source for STAMBPL1 Gene

1 BioSystems pathway for STAMBPL1 Gene

Gene Ontology (GO) - Biological Process for STAMBPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016579 protein deubiquitination TAS --
GO:0018215 protein phosphopantetheinylation IEA --
GO:0070536 protein K63-linked deubiquitination IBA 21873635
genes like me logo Genes that share ontologies with STAMBPL1: view

No data available for SIGNOR curated interactions for STAMBPL1 Gene

Drugs & Compounds for STAMBPL1 Gene

No Compound Related Data Available

Transcripts for STAMBPL1 Gene

mRNA/cDNA for STAMBPL1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAMBPL1

Alternative Splicing Database (ASD) splice patterns (SP) for STAMBPL1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15
SP1: - - - - - - - - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5: - - - - - - -
SP6: - - -
SP7: -
SP8: - - - - -
SP9:

Relevant External Links for STAMBPL1 Gene

GeneLoc Exon Structure for
STAMBPL1

Expression for STAMBPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STAMBPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for STAMBPL1 Gene

This gene is overexpressed in Breast (57.9) and Heart (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STAMBPL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STAMBPL1

SOURCE GeneReport for Unigene cluster for STAMBPL1 Gene:

Hs.16229

mRNA Expression by UniProt/SwissProt for STAMBPL1 Gene:

Q96FJ0-STALP_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for STAMBPL1 Gene

  • Nervous system(4.5)
  • Blood(4.3)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with STAMBPL1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for STAMBPL1 Gene

Orthologs for STAMBPL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for STAMBPL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STAMBPL1 29 30
  • 99.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STAMBPL1 29 30
  • 90.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stambpl1 29 16 30
  • 86.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stambpl1 29
  • 86.24 (n)
Dog
(Canis familiaris)
Mammalia STAMBPL1 29 30
  • 80.66 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STAMBPL1 30
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STAMBPL1 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves STAMBPL1 29 30
  • 77.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STAMBPL1 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stambpl1 29
  • 71.87 (n)
MGC75962 29
Zebrafish
(Danio rerio)
Actinopterygii stambpl1 30
  • 67 (a)
OneToOne
LOC570542 29
  • 64.67 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG2224 30
  • 41 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToMany
Species where no ortholog for STAMBPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 STAMBPL1 Gene

ENSEMBL:
Gene Tree for STAMBPL1 (if available)
TreeFam:
Gene Tree for STAMBPL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STAMBPL1: view image
Alliance of Genome Resources:
Additional Orthologs for STAMBPL1

Paralogs for STAMBPL1 Gene

Paralogs for STAMBPL1 Gene

(1) SIMAP similar genes for STAMBPL1 Gene using alignment to 2 proteins:

  • STALP_HUMAN
  • B3KR00_HUMAN
genes like me logo Genes that share paralogs with STAMBPL1: view

Variants for STAMBPL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAMBPL1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs12254856 -- p.Ser196Asn
rs34270879 -- p.Glu204Lys
rs9988723 -- p.Ala210Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STAMBPL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for STAMBPL1 Gene

Variant ID Type Subtype PubMed ID
esv3624139 CNV gain 21293372
esv3624143 CNV loss 21293372
esv3624144 CNV gain 21293372
nsv831942 CNV gain 17160897
nsv831943 CNV gain 17160897

Variation tolerance for STAMBPL1 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.83; 67.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STAMBPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAMBPL1
Leiden Open Variation Database (LOVD)
STAMBPL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAMBPL1 Gene

Disorders for STAMBPL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for STAMBPL1 Gene - From: COP

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 3
  • hps3
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for STAMBPL1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with STAMBPL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STAMBPL1 Gene

Publications for STAMBPL1 Gene

  1. Identification of AMSH-LP containing a Jab1/MPN domain metalloenzyme motif. (PMID: 12810066) Kikuchi K … Sugamura K (Biochemical and biophysical research communications 2003) 2 3 4 22
  2. Structural basis for specific cleavage of Lys 63-linked polyubiquitin chains. (PMID: 18758443) Sato Y … Fukai S (Nature 2008) 3 4
  3. Clathrin anchors deubiquitinating enzymes, AMSH and AMSH-like protein, on early endosomes. (PMID: 16716190) Nakamura M … Komada M (Genes to cells : devoted to molecular & cellular mechanisms 2006) 3 22
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 40
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for STAMBPL1 Gene

Sources for STAMBPL1 Gene