ENSG00000133961


Homo sapiens

Features
Gene ID: ENSG00000133961
  
Biological name :NUMB
  
Synonyms : NUMB / NUMB, endocytic adaptor protein / P49757
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q24.3
Gene start: 73275107
Gene end: 73458617
  
Corresponding Affymetrix probe sets: 207545_s_at (Human Genome U133 Plus 2.0 Array)   209073_s_at (Human Genome U133 Plus 2.0 Array)   230462_at (Human Genome U133 Plus 2.0 Array)   236930_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000451959
Ensembl peptide - ENSP00000452069
Ensembl peptide - ENSP00000453209
Ensembl peptide - ENSP00000452888
Ensembl peptide - ENSP00000452416
Ensembl peptide - ENSP00000452357
Ensembl peptide - ENSP00000347169
Ensembl peptide - ENSP00000348644
Ensembl peptide - ENSP00000352563
Ensembl peptide - ENSP00000441258
Ensembl peptide - ENSP00000446001
Ensembl peptide - ENSP00000450817
Ensembl peptide - ENSP00000451117
Ensembl peptide - ENSP00000451300
Ensembl peptide - ENSP00000451326
Ensembl peptide - ENSP00000451374
Ensembl peptide - ENSP00000451513
Ensembl peptide - ENSP00000451559
Ensembl peptide - ENSP00000451625
NCBI entrez gene - 8650     See in Manteia.
OMIM - 603728
RefSeq - NM_001005744
RefSeq - NM_001005745
RefSeq - NM_001320114
RefSeq - NM_003744
RefSeq - NM_001005743
RefSeq Peptide - NP_001005744
RefSeq Peptide - NP_001005745
RefSeq Peptide - NP_001307043
RefSeq Peptide - NP_003735
RefSeq Peptide - NP_001005743
swissprot - P49757
swissprot - A0A024R6C4
swissprot - A0A024R684
swissprot - A0A024R681
swissprot - G3V3M5
swissprot - G3V3R1
swissprot - G3V3Z8
swissprot - G3V433
swissprot - G3V4S6
swissprot - A0A024R6F4
Ensembl - ENSG00000133961
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NumbENSMUSG00000021224Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NUMBL / Q9Y6R0 / NUMB like, endocytic adaptor proteinENSG0000010524552
GULP1 / Q9UBP9 / GULP, engulfment adaptor PTB domain containing 1ENSG0000014436611
Q5SW96 / LDLRAP1 / low density lipoprotein receptor adaptor protein 1ENSG0000015797811


Protein motifs (from Interpro)
Interpro ID Name
 IPR006020  PTB/PI domain
 IPR010449  NUMB domain
 IPR011993  PH-like domain superfamily
 IPR016698  Numb/numb-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007405 neuroblast proliferation IEA
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0021670 lateral ventricle development ISS
 biological_processGO:0021849 neuroblast division in subventricular zone ISS
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0034332 adherens junction organization IEA
 biological_processGO:0050769 positive regulation of neurogenesis ISS
 biological_processGO:1903077 negative regulation of protein localization to plasma membrane IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0019897 extrinsic component of plasma membrane IEA
 cellular_componentGO:0030136 clathrin-coated vesicle IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0045177 apical part of cell IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IEA
 molecular_functionGO:0045294 alpha-catenin binding IEA
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
Activated NOTCH1 Transmits Signal to the Nucleus
Recycling pathway of L1
Degradation of GLI1 by the proteasome
Hedgehog on state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111087 GLI1 / P08151 / GLI family zinc finger 1  / complex / reaction
 ENSG00000183020 AP2A2 / O94973 / adaptor related protein complex 2 alpha 2 subunit  / complex
 ENSG00000196961 AP2A1 / O95782 / adaptor related protein complex 2 alpha 1 subunit  / complex
 ENSG00000078747 ITCH / Q96J02 / itchy E3 ubiquitin protein ligase  / reaction / complex
 ENSG00000148400 NOTCH1 / P46531  / complex / reaction
 ENSG00000092964 DPYSL2 / Q16555 / dihydropyrimidinase like 2  / complex
 ENSG00000198910 L1CAM / P32004 / L1 cell adhesion molecule  / reaction / complex
 ENSG00000107882 SUFU / Q9UMX1 / SUFU negative regulator of hedgehog signaling  / reaction / complex






 

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