Cfhr1 complement factor H-related 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfhr1provided by MGI
Official Full Name: complement factor H-related 1provided by MGI
Primary source: MGI:MGI:2138169
See related: Ensembl:ENSMUSG00000057037 AllianceGenome:MGI:2138169
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: CFHRB; Cfhl1
Summary: Predicted to enable complement component C3b binding activity and identical protein binding activity. Predicted to be involved in complement activation. Predicted to be part of protein-containing complex. Predicted to be active in extracellular space. Human ortholog(s) of this gene implicated in acute myeloid leukemia; age related macular degeneration 1; atypical hemolytic-uremic syndrome; and multiple myeloma. Orthologous to several human genes including CFHR1 (complement factor H related 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver adult (RPKM 16.4), liver E18 (RPKM 5.2) and 2 other tissues See more
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Genomic context

Location:: 1 F; 1 61.62 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (139474802..139487960, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (139547064..139560222, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases.
Title: Molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases.
Deficiency of Mouse FHR-1 Homolog, FHR-E, Accelerates Sepsis, and Acute Kidney Injury Through Enhancing the LPS-Induced Alternative Complement Pathway.
Title: Deficiency of Mouse FHR-1 Homolog, FHR-E, Accelerates Sepsis, and Acute Kidney Injury Through Enhancing the LPS-Induced Alternative Complement Pathway.

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Variation

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Alleles

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

Endonuclease-mediated (3)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:490769

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AI194696 (e-PCR)
- UniSTS:158858

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables complement component C3b binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: complement factor H-related 1

Names: complement component factor h-like 1; complement factor H-related protein

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_015780.2 → NP_056595.1 complement factor H-related 1 precursor

See identical proteins and their annotated locations for NP_056595.1

Status: VALIDATED

Source sequence(s)

AI451168, BC111870, M29008

Consensus CDS

CCDS15337.1

UniProtKB/TrEMBL

Q61406

Related

ENSMUSP00000023965.6, ENSMUST00000023965.8

Conserved Domains (1) summary

cd00033
Location:154 → 209

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