SH3KBP1 (GeneID: 30011) | Homo sapiens
Description: SH3 domain containing kinase binding protein 1 [Source:HGNC Symbol;Acc:HGNC:13867]
Synonyms: HSB-1, CD2BP3, MIG18, GIG10, HSB1, CIN85
Other ID(s): ENSG00000147010, HGNC:13867
Protein Accession Numbers: ENST00000431164, NP_001340822, ENST00000379726, NP_001340819, ENST00000379697, ENST00000541422, NP_001340824, ENST00000397821.3, NP_001340821, ENST00000379716, NP_001171889, NP_114098, ENST00000432234, NP_001340823, ENST00000397821, NP_001340820, ENST00000379698, NP_001019837, NP_001340826
Statistics: ClinVar(20)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000379697 ENST00000379698 ENST00000379716 ENST00000379726 ENST00000397821 ENST00000431164 ENST00000432234 ENST00000541422 NP_001019837 NP_001171889 NP_001340819 NP_001340820 NP_001340821 NP_001340822 NP_001340823 NP_001340824 NP_001340826 NP_114098


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.785 0.172
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.785 0.172
NO RESULT FOUND
feedback