ENSG00000203710


Homo sapiens

Features
Gene ID: ENSG00000203710
  
Biological name :CR1
  
Synonyms : complement C3b/C4b receptor 1 (Knops blood group) / CR1 / P17927
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q32.2
Gene start: 207496147
Gene end: 207641765
  
Corresponding Affymetrix probe sets: 206244_at (Human Genome U133 Plus 2.0 Array)   208488_s_at (Human Genome U133 Plus 2.0 Array)   217484_at (Human Genome U133 Plus 2.0 Array)   217552_x_at (Human Genome U133 Plus 2.0 Array)   239205_s_at (Human Genome U133 Plus 2.0 Array)   244313_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000356020
Ensembl peptide - ENSP00000383744
Ensembl peptide - ENSP00000436139
Ensembl peptide - ENSP00000434718
Ensembl peptide - ENSP00000356016
Ensembl peptide - ENSP00000356018
Ensembl peptide - ENSP00000356019
NCBI entrez gene - 1378     See in Manteia.
OMIM - 120620
RefSeq - NM_000651
RefSeq - XM_011509205
RefSeq - XM_006711166
RefSeq - NM_000573
RefSeq Peptide - NP_000564
RefSeq Peptide - NP_000642
swissprot - E9PDY4
swissprot - P17927
swissprot - Q5SR44
swissprot - H0YE06
swissprot - E9PQN4
Ensembl - ENSG00000203710
  
Related genetic diseases (OMIM): 120620 - CR1 deficiency
  607486 - [Blood group, Knops system], 607486
  611162 - {Malaria, severe, resistance to}, 611162
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000045935Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CSMD1 / CUB and Sushi multiple domains 1ENSG0000018311718
CSMD3 / Q7Z407 / CUB and Sushi multiple domains 3ENSG0000016479617
CSMD2 / Q7Z408 / CUB and Sushi multiple domains 2ENSG0000012190417
CR1L / Q2VPA4 / complement C3b/C4b receptor 1 likeENSG0000019772117
CR2 / P20023 / complement C3d receptor 2ENSG0000011732216
SVEP1 / Q4LDE5 / sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1ENSG0000016512415
SEZ6 / Q53EL9 / seizure related 6 homologENSG000000630157
SEZ6L / Q9BYH1 / seizure related 6 homolog likeENSG000001000957
Q6UXD5 / SEZ6L2 / seizure related 6 homolog like 2ENSG000001749386


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR035976  Sushi/SCR/CCP superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002430 complement receptor mediated signaling pathway IEA
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045589 regulation of regulatory T cell differentiation TAS
 biological_processGO:0045957 negative regulation of complement activation, alternative pathway IDA
 biological_processGO:0045959 negative regulation of complement activation, classical pathway IDA
 biological_processGO:0046718 viral entry into host cell IEA
 biological_processGO:1900004 negative regulation of serine-type endopeptidase activity IDA
 biological_processGO:1900005 positive regulation of serine-type endopeptidase activity IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0101003 ficolin-1-rich granule membrane TAS
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0001851 complement component C3b binding IDA
 molecular_functionGO:0001855 complement component C4b binding IDA
 molecular_functionGO:0001861 complement component C4b receptor activity IDA
 molecular_functionGO:0004877 complement component C3b receptor activity IDA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125730 C3 / P01024 / complement C3  / complex / reaction
 ENSG00000166278 C2 / P06681 / complement C2  / reaction / complex
 ENSG00000203710 CR1 / P17927 / complement C3b/C4b receptor 1 (Knops blood group)  / reaction
 ENSG00000205403 CFI / P05156 / complement factor I  / reaction / complex
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / reaction / complex
 ENSG00000243649 CFB / P00751 / complement factor B  / reaction / complex
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / reaction / complex






 

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