Cfh complement component factor h [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfhprovided by MGI
Official Full Name: complement component factor hprovided by MGI
Primary source: MGI:MGI:88385
See related: Ensembl:ENSMUSG00000026365 AllianceGenome:MGI:88385
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NOM; Sas1; Mud-1; Sas-1
Summary: Enables complement component C3b binding activity and heparin binding activity. Acts upstream of or within with a positive effect on retina development in camera-type eye. Acts upstream of or within several processes, including complement activation; retina development in camera-type eye; and skeletal system development. Located in several cellular components, including axon; external side of plasma membrane; and neuronal cell body. Is expressed in several structures, including adrenal gland; bone; central nervous system; hemolymphoid system; and metanephros. Used to study age related macular degeneration 4; atypical hemolytic-uremic syndrome; hemolytic-uremic syndrome; and membranoproliferative glomerulonephritis. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; eye disease (multiple); hemolytic-uremic syndrome; lupus nephritis; and systemic lupus erythematosus. Orthologous to human CFH (complement factor H). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E18 (RPKM 75.9), liver adult (RPKM 32.7) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 61.62 cM; 1 F

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (140013593..140111149, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (140085855..140183411, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cell-autonomous regulation of complement C3 by factor H limits macrophage efferocytosis and exacerbates atherosclerosis.
Title: Cell-autonomous regulation of complement C3 by factor H limits macrophage efferocytosis and exacerbates atherosclerosis.
Complement factor H deficiency combined with smoking promotes retinal degeneration in a novel mouse model.
Title: Complement factor H deficiency combined with smoking promotes retinal degeneration in a novel mouse model.
Tumour extracellular vesicle-derived Complement Factor H promotes tumorigenesis and metastasis by inhibiting complement-dependent cytotoxicity of tumour cells.
Title: Tumour extracellular vesicle-derived Complement Factor H promotes tumorigenesis and metastasis by inhibiting complement-dependent cytotoxicity of tumour cells.
Absence of complement factor H reduces physical performance in C57BL6 mice.
Title: Absence of complement factor H reduces physical performance in C57BL6 mice.
Local complement factor H protects kidney endothelial cell structure and function.
Title: Local complement factor H protects kidney endothelial cell structure and function.
Changes in complement alternative pathway components, factor B and factor H during dengue virus infection in the AG129 mouse.
Title: Changes in complement alternative pathway components, factor B and factor H during dengue virus infection in the AG129 mouse.
Circulating FH Protects Kidneys From Tubular Injury During Systemic Hemolysis.
Title: Circulating FH Protects Kidneys From Tubular Injury During Systemic Hemolysis.
Complement factor H-deficient mice develop spontaneous hepatic tumors.
Title: Complement factor H-deficient mice develop spontaneous hepatic tumors.
Possible role of complement factor H in podocytes in clearing glomerular subendothelial immune complex deposits.
Title: Possible role of complement factor H in podocytes in clearing glomerular subendothelial immune complex deposits.
an African trypanosome receptor for mammalian factor H, a negative regulator of the alternative pathway, is identified.[Cfh]
Title: A receptor for the complement regulator factor H increases transmission of trypanosomes to tsetse flies.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cfh (e-PCR), detects polymorphism
- UniSTS:141324

Cfh (e-PCR), detects polymorphism
- UniSTS:498464

Cfh (e-PCR), detects polymorphism
- UniSTS:498465

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables complement component C3b binding	IBA Inferred from Biological aspect of Ancestor more info
enables complement component C3b binding	IPI Inferred from Physical Interaction more info	PubMed
enables heparan sulfate proteoglycan binding	ISO Inferred from Sequence Orthology more info
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables heparin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within ATP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within activation of membrane attack complex	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cartilage development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cellular response to lipopolysaccharide	IGI Inferred from Genetic Interaction more info	PubMed
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within complement activation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within complement activation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within complement activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in complement activation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within complement activation, alternative pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within_negative_effect complement activation, alternative pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within complement activation, alternative pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glomerulus development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within glomerulus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within immune complex clearance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within immune response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within immunoglobulin mediated immune response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within inflammatory response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response to wounding	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within kidney development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrial DNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrial gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monocyte aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neutrophil homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within organ or tissue specific immune response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within organelle localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of complement activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of complement activation	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of complement activation	ISO Inferred from Sequence Orthology more info
involved_in regulation of complement activation, alternative pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of complement-dependent cytotoxicity	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within response to cytokine	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to dietary excess	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal pigment epithelium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal rod cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vascular associated smooth muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vascular associated smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
part_of serine-type endopeptidase complex	ISO Inferred from Sequence Orthology more info
located_in symbiont cell surface	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: complement factor H

Names: complement factor H related protein 3A4/5G4; protein beta-1-H

NP_034018.2

EC 4.2.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009888.3 → NP_034018.2 complement factor H precursor

Status: VALIDATED

Source sequence(s)

BB661130, BC066092

Consensus CDS

CCDS48388.1

UniProtKB/Swiss-Prot

P06909, Q6NZK3

UniProtKB/TrEMBL

E9Q8I0

Related

ENSMUSP00000107607.3, ENSMUST00000111976.9

Conserved Domains (5) summary

cd00033
Location:164 → 224

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

PHA02817
Location:720 → 821

PHA02817; EEV Host range protein; Provisional

smart00032
Location:287 → 338

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

PHA02927
Location:19 → 280

PHA02927; secreted complement-binding protein; Provisional

pfam00084
Location:587 → 640

Sushi; Sushi repeat (SCR repeat)