Official symbol | CFH |
Gene id | 3075 |
Organism | Homo sapiens |
Official full symbol | complement factor H |
Gene type | protein-coding |
Also known as | AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS |
Summary | This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. |
Genomic regions | Chromosome 1 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CFH-202 | ENST00000367429.9 | 3962 | 1231aa | Protein coding | CCDS1385 | A0A024R962 P08603 | NM_000186.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
CFH-206 | ENST00000630130.2 | 1658 | 449aa | Protein coding | CCDS53452 | A0A0D9SG88 | - | TSL:1, GENCODE basic, |
CFH-201 | ENST00000359637.2 | 1454 | 385aa | Protein coding | - | Q5TFM2 | - | TSL:1, GENCODE basic, |
CFH-205 | ENST00000496761.1 | 550 | No protein | Processed transcript | - | - | - | TSL:2, |
CFH-203 | ENST00000466229.5 | 6985 | No protein | Retained intron | - | - | - | TSL:1, |
CFH-204 | ENST00000470918.1 | 753 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | CFH |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CFH had been KO in a549 cell line. |
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