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STAMBP Gene

protein-coding   GIFtS: 66
GCID: GC02P074056

STAM Binding Protein

  See STAMBP-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
STAM Binding Protein1 2     MICCAP2 5
AMSH2 3 5     STAM-Binding Protein2
Associated Molecule With The SH3 Domain Of STAM2 3     EC 3.4.19.-3
Endosome-Associated Ubiquitin Isopeptidase2 3     EC 3.1.2.158

External Ids:    HGNC: 169501   Entrez Gene: 106172   Ensembl: ENSG000001243567   OMIM: 6062475   UniProtKB: O956303   

Export aliases for STAMBP gene to outside databases

Previous GC identifers: GC02P074030 GC02P073968 GC02P073791


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for STAMBP Gene:
Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One
such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell
growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and
plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple
alternatively spliced transcript variants encoding the same protein isoform have been found for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for STAMBP Gene:
STAMBP (STAM binding protein) is a protein-coding gene. Diseases associated with STAMBP include microcephaly-capillary malformation syndrome. GO annotations related to this gene include metallopeptidase activity and ubiquitin-specific protease activity. An important paralog of this gene is STAMBPL1.

UniProtKB/Swiss-Prot: STABP_HUMAN, O95630
Function: Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave
'Lys-48'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC
induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the
inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis
and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for
efficient EGFR degradation but not for its internalization (By similarity). Involved in the negative regulation
of PI3K-AKT-mTOR and RAS-MAP signaling pathways

Gene Wiki entry for STAMBP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the STAMBP gene promoter:
         AML1a   Ik-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTAMBP promoter sequence
   Search Chromatin IP Primers for STAMBP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STAMBP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p24.3-p24.1

STAMBP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STAMBP gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P074056:  view genomic region     (about GC identifiers)

Start:
74,056,043 bp from pter      End:
74,100,786 bp from pter
Size:
44,744 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: STABP_HUMAN, O95630 (See protein sequence)
Recommended Name: STAM-binding protein  
Size: 424 amino acids; 48077 Da
Cofactor: Binds 2 zinc ions per subunit (By similarity)
Subunit: Interacts with STAM1. Interacts with SMAD6 and SMAD7. Interacts with CHMP3; the interaction appears to
relieve the autoinhibition of CHMP3. Interacts with SMURF2 and RNF11; this interaction promotes ubiquitination
Miscellaneous: X-ray crystallography studies of STAMBPL1, another member of the peptidase M67C family, has shown
that Glu-280 binds zinc indirectly via a water molecule. Nevertheless, this residue is essential for catalytic
activity
3 PDB 3D structures from and Proteopedia for STAMBP:
2XZE (3D)        3RZU (3D)        3RZV (3D)    
Secondary accessions: D6W5H7 Q3MJE7

Explore the universe of human proteins at neXtProt for STAMBP: NX_O95630

Explore proteomics data for STAMBP at MOPED

Post-translational modifications: 

  • Phosphorylated after BMP type I receptor activation1
  • Ubiquitinated by SMURF2 in the presence of RNF111
  • Ubiquitination2 at Lys107, Lys153, Lys393
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for STAMBP (O95630) (see all 5)
     CRQKGFHPH  ETCGILCGKL  SSVDLHTHCSYQ  AIVCSPKFQETGFFKLTD 


    See STAMBP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_006454.1  NP_964010.1  NP_998787.1  

    ENSEMBL proteins: 
     ENSP00000386548   ENSP00000413291   ENSP00000413874   ENSP00000390921   ENSP00000377633  
     ENSP00000443502   ENSP00000344742   ENSP00000377636  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000555 JAB_MPN_dom
     IPR015063 USP8_dimer

    Graphical View of Domain Structure for InterPro Entry O95630

    ProtoNet protein and cluster: O95630

    1 Blocks protein domain: IPB000555 Mov34 family

    UniProtKB/Swiss-Prot: STABP_HUMAN, O95630
    Domain: The JAMM motif is essential for the protease activity (By similarity)
    Similarity: Belongs to the peptidase M67C family
    Similarity: Contains 1 MPN (JAB/Mov34) domain


    Find genes that share domains with STAMBP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STABP_HUMAN, O95630
    Function: Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave
    'Lys-48'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC
    induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the
    inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis
    and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for
    efficient EGFR degradation but not for its internalization (By similarity). Involved in the negative regulation
    of PI3K-AKT-mTOR and RAS-MAP signaling pathways
    Enzyme regulation: Inhibited by N-ethylmaleimide

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004843ubiquitin-specific protease activity IDA18388320
    GO:0005515protein binding IPI10383417
    GO:0008237metallopeptidase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with STAMBP           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for STAMBP:
     Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Stambp):
     behavior/neurological  growth/size/body  immune system  mortality/aging  nervous system 
     vision/eye 

    Find genes that share phenotypes with STAMBP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Stambptm1Sug for STAMBP

       genOway: Develop your customized and physiologically relevant rodent model for STAMBP

    miRNA
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    Block miRNA regulation of human, mouse, rat STAMBP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STAMBP (see all 67):
    hsa-miR-607 hsa-miR-938 hsa-miR-3916 hsa-miR-3148 hsa-miR-490-3p hsa-miR-548b-3p hsa-miR-224* hsa-miR-645
    SwitchGear 3'UTR luciferase reporter plasmidSTAMBP 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    STABP_HUMAN, O95630: Nucleus. Membrane; Peripheral membrane protein. Cytoplasm. Early endosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    plasma membrane4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005769early endosome IEA--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with STAMBP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for STAMBP About    
    See pathways by source

    SuperPathContained pathways About
    1Protein Stability
    Protein Stability
    2Internalization of ErbB1
    Internalization of ErbB1
    3Endocytosis
    Endocytosis


    Find genes that share SuperPaths with STAMBP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for STAMBP
        Protein Stability

    1 BioSystems Pathway for STAMBP
        Internalization of ErbB1



    1 Kegg Pathway  (Kegg details for STAMBP):
        Endocytosis

        Pathway & Disease-focused RT2 Profiler PCR Array including STAMBP: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for STAMBP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for STAMBP (O956301, 2, 3 ENSP000003447424) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHMP3Q9Y3E71, 3, ENSP000002638564EBI-396676,EBI-2118119 I2D: score=8 STRING: ENSP00000263856
    GRB2P629931, 3, ENSP000003390074EBI-396676,EBI-401755 I2D: score=4 STRING: ENSP00000339007
    CHMP1AQ9HD421, 3, ENSP000002534754EBI-396676,EBI-1057156 I2D: score=2 STRING: ENSP00000253475
    CHMP5Q9NZZ31, 3, ENSP000002235004EBI-396676,EBI-751303 I2D: score=1 STRING: ENSP00000223500
    RECQL5O947622, 3MINT-63230 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000281mitotic cytokinesis IMP18388320
    GO:0006508proteolysis ----
    GO:0007259JAK-STAT cascade TAS10383417
    GO:0008284positive regulation of cell proliferation TAS10383417
    GO:0014067negative regulation of phosphatidylinositol 3-kinase signaling IMP--

    Find genes that share ontologies with STAMBP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for STAMBP (STABP)

    1 HMDB Compound for STAMBP    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 Novoseek inferred chemical compound relationship for STAMBP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    propanil 96.2 18 17078930 (4), 15314065 (2), 16716190 (2), 16520378 (1) (see all 8)



    Find genes that share compounds with STAMBP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for STAMBP gene (3 alternative transcripts): 
    NM_006463.4  NM_201647.2  NM_213622.2  

    Unigene Cluster for STAMBP:

    STAM binding protein
    Hs.469018  [show with all ESTs]
    Unigene Representative Sequence: NM_213622
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409707 ENST00000452725 ENST00000432295 ENST00000424659 ENST00000394070(uc002sjs.3 uc002sju.3 uc002sjv.3)
    ENST00000536064 ENST00000478946 ENST00000486458 ENST00000487811 ENST00000339566
    ENST00000394073
    miRNA
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    hsa-miR-607 hsa-miR-938 hsa-miR-3916 hsa-miR-3148 hsa-miR-490-3p hsa-miR-548b-3p hsa-miR-224* hsa-miR-645
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    Additional mRNA sequence: 

    AF052135.1 AK023768.1 BC007682.1 BC065574.1 BC101467.1 BC101469.1 EU927390.1 U73522.1 

    11 DOTS entries:

    DT.86853374  DT.448971  DT.409248  DT.101964211  DT.437226  DT.100026770  DT.100806523  DT.91682782 
    DT.91860569  DT.92439811  DT.40124680 

    Selected AceView cDNA sequences (see all 55):

    AW955215 AI560177 AW294318 AI421353 AA324651 AL702850 BX432968 CA447246 
    BM998025 AI051561 BU624695 CR604826 BU622410 CB131723 AA156537 CA423304 
    BM473469 BI868594 BX432967 AI091357 BX502127 BM824467 BG623502 AL516207 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for STAMBP (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for STAMBP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    STAMBP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCACCCAAA
    STAMBP Expression
    About this image


    STAMBP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Secondary Spermatocyte Seminiferous Tubules
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             Secondary Spermatocyte Seminiferous Tubules
    STAMBP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STAMBP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469018

    UniProtKB/Swiss-Prot: STABP_HUMAN, O95630
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including STAMBP: 
              Apoptosis 384HT in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for STAMBP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stambp1 , 5 STAM binding protein1, 5 80.66(n)1
    83.49(a)1
      6 (35.94 cM)5
    705271  NM_024239.21  NP_077201.11 
     835432065 
    chicken
    (Gallus gallus)
    Aves LOC7710901 STAM-binding protein-like 71.38(n)
    74.94(a)
      771090  XM_004947633.1  XP_004947690.1 
    lizard
    (Anolis carolinensis)
    Reptilia STAMBP6
    STAM binding protein
    72(a)
    1 ↔ 1
    GL343608.1(261984-283078)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.35272 Xenopus laevis transcribed sequence with weak similarity more 74.44(n)    CA792378.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc661472 hypothetical protein MGC66147 74.19(n)   393470  AY398309.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG22241 CG2224 53.1(n)
    50(a)
      43617  NM_001276179.1  NP_001263108.1 


    ENSEMBL Gene Tree for STAMBP (if available)
    TreeFam Gene Tree for STAMBP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STAMBP gene
    STAMBPL12  
    1 SIMAP similar gene for STAMBP using alignment to 7 protein entries:     STABP_HUMAN (see all proteins):
    STAMBPL1

    Find genes that share paralogs with STAMBP           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for STAMBP
    PGOHUM00000233524


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for STAMBP (see all 784)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0698114
    Microcephaly-capillary malformation syndrome (MICCAP)4--see VAR_0698112 T I mis40--------
    VAR_0698084
    Microcephaly-capillary malformation syndrome (MICCAP)4--see VAR_0698082 E G mis40--------
    VAR_0698064
    Microcephaly-capillary malformation syndrome (MICCAP)4--see VAR_0698062 R P mis40--------
    VAR_0698104
    Microcephaly-capillary malformation syndrome (MICCAP)4--see VAR_0698102 F Y mis40--------
    VAR_0698094
    Microcephaly-capillary malformation syndrome (MICCAP)4--see VAR_0698092 Y C mis40--------
    VAR_0698074
    Microcephaly-capillary malformation syndrome (MICCAP)4--see VAR_0698072 R C mis40--------
    rs1906484231,2
    --73925238(+) ATTTTC/TACCTT 2 -- us2k10--------
    rs1834834941,2
    --73925286(+) AGTATC/TGAACT 3 -- us2k10--------
    rs729154811,2
    C--73925297(+) TTGCCC/TCAGAT 3 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1474152381,2
    --73925377(+) TTAGCG/TATTAC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for STAMBP (74056043 - 74100786 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for STAMBP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv269716CNV Insertion20981092
    nsv2780CNV Loss18451855
    nsv834260CNV Gain17160897
    essv105CNV CNV17122850
    dgv1197e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): STAMBP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STAMBP
    DNA2.0 Custom Variant and Variant Library Synthesis for STAMBP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606247   
    OMIM disorders: 614261  
    UniProtKB/Swiss-Prot: STABP_HUMAN, O95630
  • Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]: A congenital disorder characterized
    by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple
    small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic
    facial features, distal limb abnormalities, and mild heart defects. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 1 disease for STAMBP:    
    About MalaCards
    microcephaly-capillary malformation syndrome


    Find genes that share disorders with STAMBP           About GenesLikeMe


    Export disorders for STAMBP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for STAMBP gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with STAMBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Possible involvement of a novel STAM-associated molecule 'AMSH' in intracellular signal transduction mediated by cytokines. (PubMed id 10383417)1, 2, 3 Tanaka N.... Sugamura K. (J. Biol. Chem. 1999)
    2. AMSH is an endosome-associated ubiquitin isopeptidase. (PubMed id 15314065)1, 2, 9 McCullough J.... Urbe S. (J. Cell Biol. 2004)
    3. Targeting of AMSH to endosomes is required for epidermal growth factor receptor degradation. (PubMed id 17261583)1, 2, 9 Ma Y.M.... Kirchhausen T. (J. Biol. Chem. 2007)
    4. Promoting bone morphogenetic protein signaling through negative regulation of inhibitory Smads. (PubMed id 11483516)1, 2, 9 Itoh F.... Itoh S. (EMBO J. 2001)
    5. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. (PubMed id 23542699)1, 2 McDonell L.M....Boycott K.M. (Nat. Genet. 2013)
    6. Release of autoinhibition converts ESCRT-III components into potent inhibitors of HIV-1 budding. (PubMed id 17146056)1, 2 Zamborlini A....Goettlinger H. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein. (PubMed id 14755250)1, 2 Li H. and Seth A.K. (Oncogene 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. MPN+, a putative catalytic motif found in a subset of MPN domain proteins from eukaryotes and prokaryotes, is critical for Rpn11 function. (PubMed id 12370088)1, 2 Maytal-Kivity V.... Glickman M.H. (BMC Biochem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10617 HGNC: 16950 AceView: STAMBP.1 Ensembl:ENSG00000124356 euGenes: HUgn10617
    ECgene: STAMBP Kegg: 10617 H-InvDB: STAMBP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for STAMBP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for STAMBP gene:
    Search GeneIP for patents involving STAMBP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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