CR1 (GeneID: 1378) | Homo sapiens
Description: complement C3b/C4b receptor 1 (Knops blood group) [Source:HGNC Symbol;Acc:HGNC:2334]
Synonyms: KN, C3BR, CD35, C4BR
Other ID(s): HGNC:2334, ENSG00000203710
Protein Accession Numbers: ENST00000367049, NP_000642, ENST00000529814, ENST00000367052, NP_000564, ENST00000400960, ENST00000367051, ENST00000534202, ENST00000367053
Statistics: ClinVar(7) gnomAD(1630) COSMIC(855)
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.
ENST00000367049 You are here now! ENST00000367051 ENST00000367052 ENST00000367053 ENST00000400960 ENST00000529814 ENST00000534202 NP_000564 NP_000642 You are here now!


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
PF00084 Sushi Sushi repeat (SCR repeat) 297-353 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 747-803 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1197-1253 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1907-1964 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1647-1703 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 2041-2096 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 2100-2156 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 238-293 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 688-743 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1138-1193 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1588-1643 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 2359-2415 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 104-161 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 2298-2354 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 616-682 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1066-1132 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 166-232 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1516-1582 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 421-487 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 871-937 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1710-1766 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 493-549 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 943-999 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1393-1449 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1321-1387 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 2163-2219 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1454-1511 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1969-2035 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1771-1837 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 43-99 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 554-611 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1004-1061 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 362-416 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 812-866 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1262-1316 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 1846-1902 CL0001 EGF Homo sapiens
PF00084 Sushi Sushi repeat (SCR repeat) 2224-2290 CL0001 EGF Homo sapiens

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 ; 0.607 0.621
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.607 0.621
Malaria Parasitic Diseases ; 0.607 0.621
Malaria, Falciparum Parasitic Diseases ; 0.607 0.621
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.607 0.621
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.607 0.621
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.607 0.621
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.607 0.621
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.607 0.621
NO RESULT FOUND
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