ImmunoDeficiency Resource (IDR)

Names

HUGO name: CFH

Alias(es):

Localization

Reference sequences

Chromosomal location

Maps

Variations / Mutations

• CFHbase; Mutation registry for Factor H deficiency

Other gene-based resources

Description

Protein function:

Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bbb complex (C3 convertase) and the (C3b)nbb complex (C5 convertase) in the alternative complement pathway.

Alternative products:

2 isoforms; 1 and 2; are produced by alternative splicing.

Structures (PDB)

1HCC	Three-dimensional structure of a complement control protein module in solution.
1HFH	Solution structure of a pair of complement modules by nuclear magnetic resonance.
1HFI	Solution structure of a pair of complement modules by nuclear magnetic resonance.

Domains

Sushi 1 domain: 20-81

Sushi 2 domain: 84-142

Sushi 3 domain: 145-206

Sushi 4 domain: 209-263

Sushi 5 domain: 266-321

Sushi 6 domain: 324-386

Sushi 7 domain: 388-443

Sushi 8 domain: 447-506

Sushi 9 domain: 508-565

Sushi 10 domain: 568-624

Sushi 11 domain: 629-685

Sushi 12 domain: 690-745

Sushi 13 domain: 752-804

Sushi 14 domain: 810-865

Sushi 15 domain: 869-927

Sushi 16 domain: 930-985

Sushi 17 domain: 988-1044

Sushi 18 domain: 1047-1103

Sushi 19 domain: 1108-1164

Sushi 20 domain: 1166-1229

Other features

Signal peptide: 1-18

Complement factor h: 19-1231

Disulfide bond: 21-66

Disulfide bond: 52-80

Disulfide bond: 85-129

Disulfide bond: 114-141

Disulfide bond: 146-192

Disulfide bond: 178-205

Disulfide bond: 210-251

Disulfide bond: 237-262

Disulfide bond: 267-309

Disulfide bond: 294-320

Disulfide bond: 325-374

Disulfide bond: 357-385

Disulfide bond: 389-431

Disulfide bond: 416-442

Disulfide bond: 448-494

Disulfide bond: 477-505

Disulfide bond: 509-553

Disulfide bond: 536-564

Disulfide bond: 569-611

Disulfide bond: 597-623

Disulfide bond: 630-673

Disulfide bond: 659-684

Disulfide bond: 691-733

Disulfide bond: 719-744

Disulfide bond: 753-792

Disulfide bond: 781-803

Disulfide bond: 811-853

Disulfide bond: 839-864

Disulfide bond: 870-915

Disulfide bond: 901-926

Disulfide bond: 931-973

Disulfide bond: 959-984

Disulfide bond: 989-1032

Disulfide bond: 1018-1043

Disulfide bond: 1048-1091

Disulfide bond: 1077-1102

Disulfide bond: 1109-1152

Disulfide bond: 1138-1163

Disulfide bond: 1167-1218

Disulfide bond: 1201-1228

N-linked (glcnac...) glycosylation site: 529

N-linked (glcnac...) glycosylation site: 718

N-linked (glcnac...) glycosylation site: 802

N-linked (glcnac...) glycosylation site: 822

N-linked (glcnac...) glycosylation site: 882

N-linked (glcnac...) glycosylation site: 911

N-linked (glcnac...) glycosylation site: 1029

N-linked (glcnac...) glycosylation site: 1095

Other related resourses:

Expression pattern for human

Tissue	Expression (%)	Clones
corresponding non cancerous liver tissue	15.23	19:13909
whole embryo, mainly head	12.95	4:3442
subchondral bone	8.37	1:1332
mammary gland	7.74	1:1441
muscle, striated	6.46	2:3451
liver	6.00	14:26031
hepatocellular carcinoma	4.70	6:14226
bladder	4.36	7:17890
grade-2-chondrosarcoma	4.22	1:2639
osteoarthritic cartilage	3.72	1:2999