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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1379
Gene name	Complement C3b/C4b receptor 1 like
Gene symbol	CR1L
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1q32.2

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002456	Process	T cell mediated immunity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030449	Process	Regulation of complement activation	IDA	25284781
GO:0030449	Process	Regulation of complement activation	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045959	Process	Negative regulation of complement activation, classical pathway	IBA
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IDA	25284781
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IEA

MIM	HGNC	e!Ensembl
605886	2335	ENSG00000197721

Q2VPA4

Protein name

Complement component receptor 1-like protein (Complement C4b-binding protein CR-1-like protein)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	35 → 91	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	96 → 153	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	158 → 224	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	230 → 285	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	289 → 345	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	351 → 408	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	413 → 470	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	475 → 541	Sushi repeat (SCR repeat)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal liver and to a lesser extent in fetal spleen and thymus. Expression appears to be limited to hematopoietic and fetal lymphoid tissue. {ECO:0000269|PubMed:14687939}.

Sequence

MAPPVRLERPFPSRRFPGLLLAALVLLLSSFSDQCNVPEWLPFARPTNLTDDFEFPIGTY
LNYECRPGYSGRPFSIICLKNSVWTSAKDKCKRKSCRNPPDPVNGMAHVIKDIQFRSQIK
YSCPKGYRLIGSSSATCIISGNTVIWDNKTPVCDRIICGLPPTIANGDFTSISREYFHYG
SVVTYHCNLGSRGKKVFELVGEPSIYCTSKDDQVGIWSGPAPQCIIPNKCTPPNVENGIL
VSDNRSLFSLNEVVEFRCQPGFGMKGPSHVKCQALNKWEPELPSCSRVCQPPPDVLHAER
TQRDKDNFSPGQEVFYSCEPGYDLRGSTYLHCTPQGDWSPAAPRCEVKSCDDFLGQLPNG
HVLFPLNLQLGAKVDFVCDEGFQLKGSSASYCVLAGMESLWNSSVPVCERKSCETPPVPV
NGMVHVITDIHVGSRINYSCTTGHRLIGHSSAECILSGNTAHWSMKPPICQQIFCPNPPA
ILNGRHTGTPLGDIPYGKEVSYTCDPHPDRGMTFNLIGESTIRRTSEPHGNGVWSSPAPR
CELPVGAGSHDALIVGKFYEVFAEEFCHL

Sequence length

569

Interactions

View interactions

	KEGG
	Complement and coagulation cascades Neutrophil extracellular trap formation Hematopoietic cell lineage Legionellosis Leishmaniasis Malaria Tuberculosis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	32919460, 33788842	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29777097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	33788842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CR1L (complement C3b/C4b receptor 1 like)