NUMB - NUMB endocytic adaptor protein Gene

Also Known as S171; C14orf41; c14_5527

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8650

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16273093 GOA
Biological Process GO Annotation Evidence References 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 References 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 References
Intra
NUMB P49757 REPS1 Homo sapiens Q96D71 23211419
Intra
NUMB P49757 REPS1 Homo sapiens Q96D71 23211419
Intra
NUMB P49757 TP53 Homo sapiens P04637 18172499
Intra
NUMB P49757 TP53 Homo sapiens P04637 18172499
Intra
NUMB P49757 MDM2 Homo sapiens Q00987 18172499
Intra
NUMB P49757 MDM2 Homo sapiens Q00987 18172499
Intra
NUMB P49757 EPS15 Homo sapiens P42566 23211419
Intra
NUMB P49757 EPS15 Homo sapiens P42566 9303539
Intra
NUMB P49757 EPS15 Homo sapiens P42566 9303539
Intra
NUMB P49757 CTNNB1 Homo sapiens P35222 24561623
Cross: Cross-species interaction Intra: Intraspecies interaction

NUMB Antibodies

Cat. No. Product Name Application Reactivity
HY-P80253 NUMB Antibody (YA258) WB, ICC/IF, IHC-P Human, Mouse, Rat

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
Others NUMB NCBI