Bin1 (GeneID: 30948) | Mus musculus
Description: bridging integrator 1 [Source:MGI Symbol;Acc:MGI:108092]
Synonyms: SH3P9, ALP-1, BRAMP-2, Amphl
Other ID(s): MGI:108092, ENSMUSG00000024381
Protein Accession Numbers: NP_001076803, XP_006526046, XP_006526054, XP_030106351, XP_006526043, XP_006526051, XP_017173405, NP_033798, XP_006526048, XP_006526056, XP_030106357, XP_006526045, XP_006526053, XP_030106350, XP_006526042, XP_006526050, XP_006526058, NP_001347805, XP_006526047, XP_006526055, XP_030106353, XP_006526044, XP_006526052, XP_017173406, XP_006526041, XP_006526049, XP_006526057
Statistics:

∙ 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.
ENST00000259238 ENST00000316724 ENST00000346226 ENST00000348750 ENST00000351659 ENST00000352848 ENST00000357970 ENST00000376113 ENST00000393040 ENST00000393041 ENST00000409400 NP_001307561 NP_001307562 NP_001307563 NP_001307569 NP_001307570 NP_001307571 NP_004296 NP_647593 NP_647594 NP_647595 NP_647596 NP_647597 NP_647598 NP_647599 NP_647600 NP_647601


insert_chartAmino Acid Conservation Percentage (Human versus Organisms with ClinVar and gnomAD Data)
Total amino acid identity (%)
Variation associated amino acid identity (%)
10010080806060404020200081%25%82%28%Macaca mulattaMacaca mulattaDrosophila melanogasterDrosophila melanogaster
Download SVG
Download PNG
Download CSV

import_contactsClinVar Data

healinggnomAD
10010090908080707060605050404030302020101000

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
PF03114 BAR BAR domain 9-230 CL0145 Golgi-transport Caenorhabditis elegans
PF14604 SH3_9 Variant SH3 domain 406-459 CL0010 SH3 Caenorhabditis elegans

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Arthrogryposis Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.573 0.621
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Centronuclear myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Congenital myopathy (disorder) N/A 0.573 0.621
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.573 0.621
X-linked centronuclear myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Myopathy, Centronuclear, Autosomal Recessive Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Tubular Aggregate Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Congenital Fiber Type Disproportion Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Congenital Structural Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Myopathy, Centronuclear, Autosomal Dominant Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Autosomal Recessive Centronuclear Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Autosomal Dominant Myotubular Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.573 0.621
NO RESULT FOUND
feedback

Send a feedback about the results.