CR1L (complement C3b/C4b receptor 1 like)

Gene

• Entrez ID: 1379
• Gene name: Complement C3b/C4b receptor 1 like
• Gene symbol: CR1L
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1q32.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0016020	Component	Membrane	IEA
GO:0030449	Process	Regulation of complement activation	IDA	25284781
GO:0043235	Component	Receptor complex	IDA	23382219
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IDA	25284781

Other IDs

• MIM: 605886
• HGNC: 2335
• e!Ensembl: ENSG00000197721

Protein

• UniProt ID: 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

Pathways

KEGG:

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	29777097

Unknown
Disease term	Disease name	Evidence	References	Source
Coronary heart disease	Coronary heart disease		21347282	ClinVar
Multiple Sclerosis	Multiple Sclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	32919460, 33788842
Brain Neoplasms	Associate	26849056
Dementia	Associate	33788842
Inflammation	Inhibit	38573776