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

    Gene ID: 9253, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:8061
    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
    Summary
    Involved in cytokine-mediated signaling pathway and protein metabolic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 8.6), endometrium (RPKM 7.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NUMBL in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40665905..40690651, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43486573..43511317, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 10634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10635 Neighboring gene SH3KBP1 binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 6117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41108540-41109063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10639 Neighboring gene Sharpr-MPRA regulatory region 12022 Neighboring gene latent transforming growth factor beta binding protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41119811-41120358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41128498-41129138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41136805-41137395 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41142798-41142919 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41153389-41154370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10641 Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41194847-41195786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41196725-41197662 Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41224841-41225542 Neighboring gene inositol-trisphosphate 3-kinase C

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001289979.2NP_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/TrEMBL
      A0A0C4DGH3, B7Z5W0
      Related
      ENSP00000472400.1, ENST00000598779.5
      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/TrEMBL
      A0A0C4DGH3, B7Z5W0
      Related
      ENSP00000442759.1, ENST00000540131.5
      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_004756.5NP_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
      Q7Z4J9, Q9Y6R0
      UniProtKB/TrEMBL
      A8K033
      Related
      ENSP00000252891.3, ENST00000252891.8
      Conserved Domains (2) summary
      cd01268
      Location:64198
      PTB_Numb; Numb Phosphotyrosine-binding (PTB) domain
      pfam06311
      Location:287371
      NumbF; NUMB domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40665905..40690651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43486573..43511317 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)