Gene Gene information from NCBI Gene database.
Entrez ID 1378
Gene name Complement C3b/C4b receptor 1 (Knops blood group)
Gene symbol CR1
Synonyms (NCBI Gene)
C3BRC4BRCD35KN
Chromosome 1
Chromosome location 1q32.2
Summary This gene is a member of the receptors of complement activation (RCA) family and is located in the `cluster RCA` region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the
miRNA miRNA information provided by mirtarbase database.
266
miRTarBase ID miRNA Experiments Reference
MIRT047066 hsa-miR-183-5p CLASH 23622248
MIRT907825 hsa-miR-10a CLIP-seq
MIRT907826 hsa-miR-10b CLIP-seq
MIRT907827 hsa-miR-1207-5p CLIP-seq
MIRT907828 hsa-miR-1268 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ETS1 Unknown 10533284
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0001848 Function Complement binding IEA
GO:0001851 Function Complement component C3b binding IDA 2972794
GO:0001855 Function Complement component C4b binding IDA 2972794
GO:0001861 Function Complement component C4b receptor activity IDA 2972794
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120620 2334 ENSG00000203710
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17927
Protein name Complement receptor type 1 (C3b/C4b receptor) (CD antigen CD35)
Protein function Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages (PubMed:2963069). Mediates the binding by these cells of particles and immune
PDB 1GKG , 1GKN , 1PPQ , 2MCY , 2MCZ , 2Q7Z , 5FO9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 43 99 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 104 161 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 166 232 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 238 293 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 297 353 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 362 416 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 421 487 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 493 549 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 554 611 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 616 682 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 688 743 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 747 803 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 812 866 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 871 937 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 943 999 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1004 1061 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1066 1132 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1138 1193 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1197 1253 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1260 1316 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1321 1387 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1396 1452 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1457 1514 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1519 1585 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1591 1646 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1650 1706 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1713 1769 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1774 1840 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1848 1904 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1910 1965 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Present on erythrocytes, a subset of T cells, mature B cells, follicular dendritic cells, monocytes and granulocytes. {ECO:0000269|PubMed:1534036, ECO:0000269|PubMed:25742728, ECO:0000269|PubMed:6233222}.
Sequence
MGASSPRSPEPVGPPAPGLPFCCGGSLLAVVVLLALPVAWGQCNAPEWLPFARPTNLTDE
FEFPIGTYLNYECRPGYSGRPFSIICLKNSVWTGAKDRC
RRKSCRNPPDPVNGMVHVIKG
IQFGSQIKYSCTKGYRLIGSSSATCIISGDTVIWDNETPIC
DRIPCGLPPTITNGDFIST
NRENFHYGSVVTYRCNPGSGGRKVFELVGEPSIYCTSNDDQVGIWSGPAPQC
IIPNKCTP
PNVENGILVSDNRSLFSLNEVVEFRCQPGFVMKGPRRVKCQALNKWEPELPSC
SRVCQPP
PDVLHAERTQRDKDNFSPGQEVFYSCEPGYDLRGAASMRCTPQGDWSPAAPTC
EVKSCDD
FMGQLLNGRVLFPVNLQLGAKVDFVCDEGFQLKGSSASYCVLAGMESLWNSSVPVCEQIF
CPSPPVIPNGRHTGKPLEVFPFGKTVNYTCDPHPDRGTSFDLIGESTIRCTSDPQGNGVW
SSPAPRC
GILGHCQAPDHFLFAKLKTQTNASDFPIGTSLKYECRPEYYGRPFSITCLDNL
VWSSPKDVC
KRKSCKTPPDPVNGMVHVITDIQVGSRINYSCTTGHRLIGHSSAECILSGN
AAHWSTKPPIC
QRIPCGLPPTIANGDFISTNRENFHYGSVVTYRCNPGSGGRKVFELVGE
PSIYCTSNDDQVGIWSGPAPQC
IIPNKCTPPNVENGILVSDNRSLFSLNEVVEFRCQPGF
VMKGPRRVKCQALNKWEPELPSC
SRVCQPPPDVLHAERTQRDKDNFSPGQEVFYSCEPGY
DLRGAASMRCTPQGDWSPAAPTC
EVKSCDDFMGQLLNGRVLFPVNLQLGAKVDFVCDEGF
QLKGSSASYCVLAGMESLWNSSVPVC
EQIFCPSPPVIPNGRHTGKPLEVFPFGKAVNYTC
DPHPDRGTSFDLIGESTIRCTSDPQGNGVWSSPAPRC
GILGHCQAPDHFLFAKLKTQTNA
SDFPIGTSLKYECRPEYYGRPFSITCLDNLVWSSPKDVC
KRKSCKTPPDPVNGMVHVITD
IQVGSRINYSCTTGHRLIGHSSAECILSGNTAHWSTKPPIC
QRIPCGLPPTIANGDFIST
NRENFHYGSVVTYRCNLGSRGRKVFELVGEPSIYCTSNDDQVGIWSGPAPQC
IIPNKCTP
PNVENGILVSDNRSLFSLNEVVEFRCQPGFVMKGPRRVKCQALNKWEPELPSC
SRVCQPP
PEILHGEHTPSHQDNFSPGQEVFYSCEPGYDLRGAASLHCTPQGDWSPEAPRC
AVKSCDD
FLGQLPHGRVLFPLNLQLGAKVSFVCDEGFRLKGSSVSHCVLVGMRSLWNNSVPVC
EHIF
CPNPPAILNGRHTGTPSGDIPYGKEISYTCDPHPDRGMTFNLIGESTIRCTSDPHGNGVW
SSPAPRC
ELSVRAGHCKTPEQFPFASPTIPINDFEFPVGTSLNYECRPGYFGKMFSISCL
ENLVWSSVEDNC
RRKSCGPPPEPFNGMVHINTDTQFGSTVNYSCNEGFRLIGSPSTTCLV
SGNNVTWDKKAPIC
EIISCEPPPTISNGDFYSNNRTSFHNGTVVTYQCHTGPDGEQLFEL
VGERSIYCTSKDDQVGVWSSPPPRC
ISTNKCTAPEVENAIRVPGNRSFFSLTEIIRFRCQ
PGFVMVGSHTVQCQTNGRWGPKLPHC
SRVCQPPPEILHGEHTLSHQDNFSPGQEVFYSCE
PSYDLRGAASLHCTPQGDWSPEAPRC
TVKSCDDFLGQLPHGRVLLPLNLQLGAKVSFVCD
EGFRLKGRSASHCVLAGMKALWNSSVPVC
EQIFCPNPPAILNGRHTGTPFGDIPYGKEIS
YACDTHPDRGMTFNLIGESSIRCTSDPQGNGVWSSPAPRC
ELSVPAACPHPPKIQNGHYI
GGHVSLYLPGMTISYICDPGYLLVGKGFIFCTDQGIWSQLDHYC
KEVNCSFPLFMNGISK
ELEMKKVYHYGDYVTLKCEDGYTLEGSPWSQCQADDRWDPPLAKC
TSRTHDALIVGTLSG
TIFFILLIIFLSWIILKHRKGNNAHENPKEVAIHLHSQGGSSVHPRTLQTNEENSRVLP
Sequence length 2039
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Complement and coagulation cascades
Neutrophil extracellular trap formation
Hematopoietic cell lineage
Legionellosis
Leishmaniasis
Malaria
Tuberculosis
  Neutrophil degranulation
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
Regulation of Complement cascade
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
39
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs41274770 RCV005936641
Anxiety Uncertain significance rs1571590802 RCV001003374
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs41274770 RCV005936654
Clear cell carcinoma of kidney Likely benign rs115988205 RCV005901065
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia and Swiss type agammaglobulinemia Associate 17900300
Acquired Immunodeficiency Syndrome Inhibit 2944915
Alzheimer Disease Associate 19734903, 20209083, 20534741, 20554627, 20558387, 20697030, 20739100, 21220176, 21379329, 21391232, 21459483, 21912625, 22015308, 22262751, 22343410
View all (48 more)
Alzheimer Disease Stimulate 23226438
Alzheimer Disease Inhibit 29792870
Anemia Associate 22761633
Anemia Inhibit 30429373
Anemia Hemolytic Associate 22405566
Arthritis Rheumatoid Stimulate 10193433, 1575573
Arthritis Rheumatoid Inhibit 20850384, 9472668