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NUMBL NUMB like, endocytic adaptor protein [ Homo sapiens (human) ]

Gene ID: 9253, updated on 5-Aug-2018

Summary

Official Symbol
NUMBLprovided by HGNC
Official Full Name
NUMB like, endocytic adaptor proteinprovided by HGNC
Primary source
HGNC:HGNC:8061
See related
Ensembl:ENSG00000105245 MIM:604018; Vega:OTTHUMG00000182627
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NBL; CAG3A; CTG3a; NUMBR; NUMB-R; TNRC23; NUMBLIKE
Expression
Ubiquitous expression in brain (RPKM 8.6), endometrium (RPKM 7.2) and 25 other tissues See more
Orthologs

Genomic context

See NUMBL in Genome Data Viewer
Location:
19q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (40665905..40690658, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41171810..41196556, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SH3KBP1 binding protein 1 Neighboring gene latent transforming growth factor beta binding protein 4 Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene inositol-trisphosphate 3-kinase C Neighboring gene chromosome 19 open reading frame 54

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of numb homolog (Drosophila)-like (NUMBL) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
  • Notch signaling pathway, organism-specific biosystem (from KEGG)
    Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch signaling pathway, conserved biosystem (from KEGG)
    Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adherens junction organization IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
lateral ventricle development ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neuroblast division in subventricular zone ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
numb-like protein
Names
numb homolog-like
numb-related protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001289979.1NP_001276908.1  numb-like protein isoform b

    See identical proteins and their annotated locations for NP_001276908.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream start codon, compared to variant 1. The encoded protein (isoform b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC010412, BC144583, HY111715
    Consensus CDS
    CCDS77298.1
    UniProtKB/Swiss-Prot
    Q9Y6R0
    UniProtKB/TrEMBL
    A0A0C4DGH3
    Related
    ENSP00000472400.1, OTTHUMP00000269694, ENST00000598779.5, OTTHUMT00000462750
    Conserved Domains (3) summary
    cd01268
    Location:23157
    PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
    pfam06311
    Location:246330
    NumbF; NUMB domain
    cl25764
    Location:348516
    PAT1; Topoisomerase II-associated protein PAT1
  2. NM_001289980.2NP_001276909.1  numb-like protein isoform b

    See identical proteins and their annotated locations for NP_001276909.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) ) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream start codon, compared to variant 1. The encoded protein (isoform b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC010412, AK299484, DC374917
    Consensus CDS
    CCDS77298.1
    UniProtKB/Swiss-Prot
    Q9Y6R0
    UniProtKB/TrEMBL
    A0A0C4DGH3, B7Z5W0
    Related
    ENSP00000442759.1, OTTHUMP00000269695, ENST00000540131.5, OTTHUMT00000462751
    Conserved Domains (3) summary
    cd01268
    Location:23157
    PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
    pfam06311
    Location:246330
    NumbF; NUMB domain
    cl25764
    Location:348516
    PAT1; Topoisomerase II-associated protein PAT1
  3. NM_004756.4NP_004747.1  numb-like protein isoform a

    See identical proteins and their annotated locations for NP_004747.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC010412, AK289398
    Consensus CDS
    CCDS12561.1
    UniProtKB/Swiss-Prot
    Q9Y6R0
    UniProtKB/TrEMBL
    A8K033
    Related
    ENSP00000252891.3, OTTHUMP00000269693, ENST00000252891.8, OTTHUMT00000462749
    Conserved Domains (2) summary
    cd01268
    Location:64198
    PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
    pfam06311
    Location:287371
    NumbF; NUMB domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    40665905..40690658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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