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SH3KBP1 SH3 domain containing kinase binding protein 1 [ Homo sapiens (human) ]

Gene ID: 30011, updated on 4-Oct-2020

Summary

Official Symbol
SH3KBP1provided by HGNC
Official Full Name
SH3 domain containing kinase binding protein 1provided by HGNC
Primary source
HGNC:HGNC:13867
See related
Ensembl:ENSG00000147010 MIM:300374
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSB1; AGMX2; CIN85; GIG10; HSB-1; IMD61; MIG18; CD2BP3
Summary
This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in lymph node (RPKM 19.2), fat (RPKM 15.0) and 24 other tissues See more
Orthologs

Genomic context

See SH3KBP1 in Genome Data Viewer
Location:
Xp22.12
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (19533977..19887600, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (19552083..19905744, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene pyruvate dehydrogenase E1 subunit alpha 1 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 2 Neighboring gene BCLAF1 and THRAP3 family member 3 Neighboring gene uncharacterized LOC729609 Neighboring gene MAP7 domain containing 2 Neighboring gene microRNA 23c

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

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies SH3KBP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell signaling NAS
Non-traceable Author Statement
more info
PubMed 
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of B cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
SH3 domain-containing kinase-binding protein 1
Names
CD2-binding protein 3
SH3-domain kinase binding protein 1
Src family kinase-binding protein 1
c-Cbl-interacting protein
cbl-interacting protein of 85 kDa
human Src family kinase-binding protein 1
migration-inducing gene 18
src-related kinase binding protein-1

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.

Genomic

  1. NG_021367.1 RefSeqGene

    Range
    5027..358650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001024666.3NP_001019837.1  SH3 domain-containing kinase-binding protein 1 isoform b

    See identical proteins and their annotated locations for NP_001019837.1

    Status: REVIEWED

    Source sequence(s)
    AF542051, AL732423, DC409010
    Consensus CDS
    CCDS35213.1
    UniProtKB/Swiss-Prot
    Q96B97
    Related
    ENSP00000369020.4, ENST00000379698.8
    Conserved Domains (2) summary
    cd12055
    Location:65117
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:234289
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  2. NM_001184960.2NP_001171889.1  SH3 domain-containing kinase-binding protein 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AK293237, AL732327, AL732423, BP224209
    Consensus CDS
    CCDS55383.1
    UniProtKB/Swiss-Prot
    Q96B97
    Related
    ENSP00000369039.1, ENST00000379716.5
    Conserved Domains (1) summary
    cd12057
    Location:3388
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  3. NM_001353890.2NP_001340819.1  SH3 domain-containing kinase-binding protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL732325, AL732327, AL732423, AL772197
    Conserved Domains (3) summary
    cd12052
    Location:355
    SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
    cd12055
    Location:102154
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:271326
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  4. NM_001353891.2NP_001340820.1  SH3 domain-containing kinase-binding protein 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL732325, AL732327, AL732423, AL772197
    Conserved Domains (3) summary
    cd12052
    Location:355
    SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
    cd12055
    Location:102154
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:296351
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  5. NM_001353892.2NP_001340821.1  SH3 domain-containing kinase-binding protein 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL732325, AL732327, AL732423, AL772197
    Conserved Domains (3) summary
    cd12052
    Location:355
    SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
    cd12055
    Location:102154
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:296351
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  6. NM_001353893.2NP_001340822.1  SH3 domain-containing kinase-binding protein 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL732325, AL732327, AL732423
    Conserved Domains (2) summary
    cd12055
    Location:4395
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:237292
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  7. NM_001353894.2NP_001340823.1  SH3 domain-containing kinase-binding protein 1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL732325, AL732327, AL732423
    Conserved Domains (2) summary
    cd12055
    Location:4395
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:237292
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  8. NM_001353895.2NP_001340824.1  SH3 domain-containing kinase-binding protein 1 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL732325, AL732327, AL732423
    Conserved Domains (2) summary
    cd12055
    Location:4395
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:256311
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  9. NM_001353897.2NP_001340826.1  SH3 domain-containing kinase-binding protein 1 isoform j

    Status: REVIEWED

    Source sequence(s)
    AL732327, AL732423
    Conserved Domains (2) summary
    cd12057
    Location:3388
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    cl25508
    Location:325384
    Spc7; Spc7 kinetochore protein
  10. NM_031892.3NP_114098.1  SH3 domain-containing kinase-binding protein 1 isoform a

    See identical proteins and their annotated locations for NP_114098.1

    Status: REVIEWED

    Source sequence(s)
    AF230904, AL732423
    Consensus CDS
    CCDS14193.1
    UniProtKB/Swiss-Prot
    Q96B97
    UniProtKB/TrEMBL
    Q5JPT6
    Related
    ENSP00000380921.3, ENST00000397821.8
    Conserved Domains (3) summary
    cd12052
    Location:355
    SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
    cd12055
    Location:102154
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:271326
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    19533977..19887600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029464.2XP_016884953.1  SH3 domain-containing kinase-binding protein 1 isoform X6

  2. XM_017029467.2XP_016884956.1  SH3 domain-containing kinase-binding protein 1 isoform X8

  3. XM_017029468.2XP_016884957.1  SH3 domain-containing kinase-binding protein 1 isoform X9

  4. XM_011545500.3XP_011543802.1  SH3 domain-containing kinase-binding protein 1 isoform X4

    Conserved Domains (3) summary
    cd12052
    Location:355
    SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
    cd12055
    Location:102154
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:315370
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  5. XM_017029465.2XP_016884954.1  SH3 domain-containing kinase-binding protein 1 isoform X7

  6. XM_011545498.3XP_011543800.1  SH3 domain-containing kinase-binding protein 1 isoform X1

    Conserved Domains (3) summary
    cd12052
    Location:355
    SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
    cd12055
    Location:102154
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:315370
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  7. XM_017029461.1XP_016884950.1  SH3 domain-containing kinase-binding protein 1 isoform X5

  8. XM_017029460.1XP_016884949.1  SH3 domain-containing kinase-binding protein 1 isoform X3

    Related
    ENSP00000369049.3, ENST00000379726.7
  9. XM_011545499.3XP_011543801.1  SH3 domain-containing kinase-binding protein 1 isoform X2

    Conserved Domains (2) summary
    cd12055
    Location:65117
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:278333
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  10. XM_017029469.1XP_016884958.1  SH3 domain-containing kinase-binding protein 1 isoform X12

    UniProtKB/Swiss-Prot
    Q96B97
    UniProtKB/TrEMBL
    B7Z6E8
    Conserved Domains (2) summary
    cd12057
    Location:1065
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    pfam10267
    Location:339396
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  11. XM_011545502.2XP_011543804.1  SH3 domain-containing kinase-binding protein 1 isoform X10

    Conserved Domains (1) summary
    cd12057
    Location:50105
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
  12. XM_011545503.3XP_011543805.1  SH3 domain-containing kinase-binding protein 1 isoform X11

    Conserved Domains (3) summary
    cd12052
    Location:355
    SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
    cd12055
    Location:102154
    SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
    cd12057
    Location:315370
    SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
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