1. Gene
  2. NUMB - NUMB endocytic adaptor protein Gene

NUMB - NUMB endocytic adaptor protein Gene

Homo sapiens

Also known as S171; C14orf41; c14_5527

Gene ID: 8650 | Gene type: protein coding

About NUMB

Cytogenetic location: 14q24.2-q24.3 Genomic coordinates (GRCh38): 14:73,275,216-73,458,546 (from NCBI)

This gene has 28 transcripts (splice variants), 219 orthologues and 11 paralogues. Ubiquitous expression in lung (RPKM 25.7), gall bladder (RPKM 21.4) and 25 other tissues.

Summary

The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

NUMB Products(5)

mRNA Protein Name
NM_001005743.2 NP_001005743.1 protein numb homolog isoform 1
NM_001005744.2 NP_001005744.1 protein numb homolog isoform 2
NM_001005745.2 NP_001005745.1 protein numb homolog isoform 4
NM_001320114.2 NP_001307043.1 protein numb homolog isoform 2
NM_003744.6 NP_003735.3 protein numb homolog isoform 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16273093 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of protein localization to plasma membrane IMP
IMP: Inferred from mutant phenotype
19581412 GOA
involved in positive regulation of cell migration IGI
IGI: Inferred from genetic interaction
19581412 GOA
involved in positive regulation of cell migration IMP
IMP: Inferred from mutant phenotype
19581412 GOA
Cellular Component GO Annotation Evidence Reference Source
located in clathrin-coated vesicle IDA
IDA: Inferred from direct assay
19581412 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NUMB Protein Structure

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (39 - 171)

NumbF

NumbF: NUMB domain (257 - 339)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 651 a.a.
Protein Preferred Names Protein Names

protein numb homolog

h-Numb

NUMB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NUMB P49757 REPS1 Homo sapiens Q96D71
Pull Down
23211419
Intra
NUMB P49757 REPS1 Homo sapiens Q96D71
Anti Bait CoIP
23211419
Intra
NUMB P49757 TP53 Homo sapiens P04637
Anti Bait CoIP
18172499
Intra
NUMB P49757 TP53 Homo sapiens P04637
Anti Tag CoIP
18172499
Intra
NUMB P49757 MDM2 Homo sapiens Q00987
Anti Tag CoIP
18172499
Intra
NUMB P49757 MDM2 Homo sapiens Q00987
Anti Bait CoIP
18172499
Intra
NUMB P49757 EPS15 Homo sapiens P42566
Anti Bait CoIP
23211419
Intra
NUMB P49757 EPS15 Homo sapiens P42566
Pull Down
9303539
Intra
NUMB P49757 EPS15 Homo sapiens P42566
CoIP
9303539
Intra
NUMB P49757 CTNNB1 Homo sapiens P35222
Anti Bait CoIP
24561623
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Melanoma, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris

Maxillary Sinus Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Maxillary Sinus

Adenoid Cystic Carcinoma Of The Maxillary Sinus

Tarp Syndrome

TARPS

Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

Pierre Robin Sequence - Congenital Heart Defect - Talipes

Pierre Robin Syndrome - Congenital Heart Defect - Talipes

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava

Tactile Agnosia
Pericoronitis

Operculitis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus NUMB MGD MGI:107423
Macaca mulatta NUMB VGNC VGNC:75557
Felis catus NUMB VGNC VGNC:68596
Canis familiaris NUMB VGNC VGNC:49933
Rattus norvegicus NUMB RGD RGD:620107
Bos taurus NUMB VGNC VGNC:50234