Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	715
Gene name Gene Name - the full gene name approved by the HGNC.	Complement C1r
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	C1R
Synonyms (NCBI Gene) Gene synonyms aliases	EDS8, EDSPD1
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis,

Show/Hide all(15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs760277934	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs769707492	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, missense variant
rs1057515579	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518643	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518645	C>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518646	GCACTTGATGA>TGTCC	Likely-pathogenic, pathogenic	Inframe indel, coding sequence variant
rs1057519025	GA>AT	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519026	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519576	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519577	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519578	C>G,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs1057519579	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519580	GTAGTACTGGATACGG>TATTACATGA	Likely-pathogenic, pathogenic	Inframe indel, coding sequence variant
rs1060499554	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555164437	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(42)

miRTarBase ID	miRNA	Experiments	Reference
MIRT630739	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT630738	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT630737	hsa-miR-326	HITS-CLIP	23824327
MIRT630736	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT630735	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT630734	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT630733	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT630732	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT630739	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT630738	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT630737	hsa-miR-326	HITS-CLIP	23824327
MIRT630736	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT630735	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT630734	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT630733	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT630732	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT630739	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT630738	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT630737	hsa-miR-326	HITS-CLIP	23824327
MIRT630736	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT630735	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT630734	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT630733	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT630732	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT630739	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT630738	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT630737	hsa-miR-326	HITS-CLIP	23824327
MIRT630736	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT630735	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT630734	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT630733	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT630732	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT842504	hsa-miR-129-5p	CLIP-seq
MIRT842505	hsa-miR-140-5p	CLIP-seq
MIRT842506	hsa-miR-3545-5p	CLIP-seq
MIRT842507	hsa-miR-3692	CLIP-seq
MIRT842508	hsa-miR-3976	CLIP-seq
MIRT842509	hsa-miR-4460	CLIP-seq
MIRT842510	hsa-miR-4727-3p	CLIP-seq
MIRT842511	hsa-miR-633	CLIP-seq
MIRT842504	hsa-miR-129-5p	CLIP-seq
MIRT842507	hsa-miR-3692	CLIP-seq

Show/Hide all(44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	EXP	11823416
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	6254570, 6271784, 11445589, 11673533, 17996945, 20178990
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	2834284
GO:0005509	Function	Calcium ion binding	IDA	20178990
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2387866, 12788922, 17996945, 28514442, 28742139, 31749804, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005602	Component	Complement component C1 complex	IDA	2988513, 6249812, 6952210, 23650384, 34155115
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	20178990
GO:0005615	Component	Extracellular space	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006955	Process	Immune response	TAS	737019
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IEA
GO:0006958	Process	Complement activation, classical pathway	IDA	3897448, 6906228, 9422791, 11673533, 16169853, 18204047
GO:0006958	Process	Complement activation, classical pathway	IDA	6249812, 6254570, 6271784, 11673533, 17996945, 20178990, 23650384, 34155115
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	TAS
GO:0008228	Process	Opsonization	IDA	3897448, 8538770
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	2834284
GO:0009986	Component	Cell surface	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031638	Process	Zymogen activation	IBA
GO:0031638	Process	Zymogen activation	IDA	11673533, 16169853
GO:0031638	Process	Zymogen activation	IDA	6271784, 11673533, 20178990
GO:0031638	Process	Zymogen activation	IEA
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0042802	Function	Identical protein binding	IPI	20970424, 31749804
GO:0045087	Process	Innate immune response	IEA
GO:0051604	Process	Protein maturation	IDA	6906228, 16169853, 18204047
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0072562	Component	Blood microparticle	IBA
GO:0106139	Component	Symbiont cell surface	IDA	34155115
GO:0140313	Function	Molecular sequestering activity	EXP	20178990

MIM	HGNC	e!Ensembl
613785	1246	ENSG00000159403

Protein

UniProt ID

P00736

Protein name

Complement C1r subcomponent (EC 3.4.21.41) (Complement component 1 subcomponent r) [Cleaved into: Complement C1r subcomponent heavy chain (Complement C1r subcomponent chain A); Complement C1r subcomponent light chain (Complement C1r subcomponent chain B)]

Protein function

Serine protease component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strength

PDB

1APQ , 1GPZ , 1MD7 , 1MD8 , 2QY0 , 6F1C , 6F1D , 6F1H , 6F39 , 9EKD , 9EKE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00431	CUB	20 → 131	CUB domain	Domain
PF14670	FXa_inhibition	154 → 189		Domain
PF00431	CUB	193 → 302	CUB domain	Domain
PF00084	Sushi	309 → 371	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	376 → 447	Sushi repeat (SCR repeat)	Domain
PF00089	Trypsin	464 → 697	Trypsin	Domain

Sequence

MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVF
QQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDF
SNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGY
ELQEDTHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPF
DIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKL
RYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQD
DGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSR
ESEQGVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVF
TNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRV
SVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVME
EKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAV
RDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED

Sequence length

705

Interactions

View interactions

	KEGG		Reactome
	Phagosome Complement and coagulation cascades Pertussis Staphylococcus aureus infection Coronavirus disease - COVID-19 Systemic lupus erythematosus		Initial triggering of complement Classical antibody-mediated complement activation Regulation of Complement cascade

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Periodontal Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome, periodontal type 1, Ehlers-Danlos syndrome, periodontal type 2	rs1057519579, rs1057515579, rs1057519578, rs1057518646, rs1057519577, rs1057518643, rs1057518645, rs1057519576, rs1057519025, rs760277934, rs1060499554, rs1057519580, rs769707492	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Systemic lupus erythematosus	autosomal systemic lupus erythematosus type 16	N/A	N/A	GenCC
vascular dementia	Vascular dementia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	37307028, 40037332
Ataxia	Associate	30535813
Atrial Fibrillation	Associate	36341343
Bipolar Disorder	Associate	39616737
Blood Coagulation Disorders	Associate	27613243
Carcinoma Hepatocellular	Inhibit	34813686
Carcinoma Squamous Cell	Associate	31049937
Cerebral Infarction	Associate	34912031
Cerebral Small Vessel Diseases	Associate	30535813
Cognition Disorders	Associate	30535813
Coronavirus Infections	Associate	35726234
COVID 19	Associate	35726234
Dystonic Disorders	Associate	31049937
Ehlers Danlos Syndrome	Associate	31921203
Ehlers Danlos Syndrome Type VIII	Associate	27745832, 30535813, 31749804, 31921203, 33498938, 36960056
Epidermolysis Bullosa Dystrophica	Associate	31049937
Glioblastoma	Associate	33009892, 35726234
Glioma	Associate	33009892
Hyperthyroidism	Associate	32575434
Hypoxia Brain	Associate	33009892
Immunologic Deficiency Syndromes	Associate	27613243
Inflammation	Associate	36596079, 39616737
Keratosis Actinic	Inhibit	31049937
Leukoencephalopathies	Associate	30535813
Lupus Erythematosus Systemic	Associate	28544690, 32576231
Lymphatic Metastasis	Associate	33658651
Lymphoma Non Hodgkin	Associate	27745832
Muscular Dystrophy Duchenne	Associate	36596079
Myocardial Infarction	Associate	32389013
Neoplasms	Associate	31049937
Neoplasms	Inhibit	34813686
Neoplasms Squamous Cell	Stimulate	31049937
Osteoarthritis	Associate	29257293, 34208590
Periodic fever familial autosomal dominant	Associate	28544690
Periodontitis	Associate	31921203
Schizophrenia	Associate	39616737
Scleroderma Systemic	Associate	39684939
Seizures	Associate	30535813
Squamous Cell Carcinoma of Head and Neck	Stimulate	26552850

C1R (complement C1r)