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Cfhr1 Gene Detail
Summary
  • Symbol
    Cfhr1
  • Name
    complement factor H-related 1
  • Synonyms
    Cfhl1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2138169
    NCBI Gene: 50702
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:139474802-139487960 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 61.62 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    430 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2138169
 protein coding gene Chr1:139474791-139488010 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016555
 protein coding gene Chr1:143612269-143625412 (-)
A/J MGP_AJ_G0016538
 protein coding gene Chr1:138028684-138041763 (-)
AKR/J MGP_AKRJ_G0016503
 protein coding gene Chr1:142199454-142214526 (-)
BALB/cJ MGP_BALBcJ_G0016498
 protein coding gene Chr1:138388404-138401458 (-)
C3H/HeJ MGP_C3HHeJ_G0016324
 protein coding gene Chr1:142279364-142292504 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016959
 protein coding gene Chr1:148639783-148663032 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014670
 protein coding gene Chr1:131099875-131111825 (-)
CAST/EiJ MGP_CASTEiJ_G0015904
 protein coding gene Chr1:141458264-141479454 (-)
CBA/J MGP_CBAJ_G0016297
 protein coding gene Chr1:153776481-153789518 (-)
DBA/2J MGP_DBA2J_G0016403
 protein coding gene Chr1:137030790-137047820 (-)
FVB/NJ MGP_FVBNJ_G0016402
 protein coding gene Chr1:135670179-135684154 (-)
LP/J MGP_LPJ_G0016474
 protein coding gene Chr1:144704063-144721441 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016427
 protein coding gene Chr1:159428693-159454261 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016995
 protein coding gene Chr1:141998164-142013267 (-)
PWK/PhJ MGP_PWKPhJ_G0015690
 protein coding gene Chr1:136115730-136128858 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015477
 protein coding gene Chr1:140937860-140954184 (-)
WSB/EiJ MGP_WSBEiJ_G0015967
 protein coding gene Chr1:142001514-142015214 (-)



Homology
more
  • Human Ortholog
    CFHR1, complement factor H related 1
  • Vertebrate Orthologs
    8
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFHR1, complement factor H related 1
  • Synonyms
    CFHL, CFHL1, CFHL1P, CFHR1P, FHL-1, FHR-1, FHR1, H36, H36-1, H36-2, HFL1, HFL2
  • Links
    NCBI Gene ID: 3078
    neXtProt AC: NX_Q03591
    UniProt: Q03591

  • Chr Location
    1q31.3; chr1:196819731-196837159 (+)  GRCh38
  • Human Ortholog
    CFHR2, complement factor H related 2
  • Synonyms
    CFHL2, FHR2, HFL3
  • Links
    NCBI Gene ID: 3080
    neXtProt AC: NX_P36980
    UniProt: P36980

  • Chr Location
    1q31.3; chr1:196943738-196959622 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human CFHR1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    7
  • GO References
    2
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    10
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 50702 NCBI Gene Model | MGI Sequence Detail 13159 C57BL/6J ±  kb
transcript NM_015780 RefSeq | MGI Sequence Detail 1732 C57BL/6  
polypeptide NP_056595 RefSeq | MGI Sequence Detail 343 C57BL/6  
For the selected sequence
Protein
Information
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  • UniProt
    2 Sequences
  • InterPro Domains
    IPR051503 Complement System Regulators and Virion Entry Mediators
    IPR000436 Sushi/SCR/CCP domain
    IPR035976 Sushi/SCR/CCP superfamily
Molecular
Reagents
less
  • All nucleic 10
    cDNA 10

    Microarray probesets 3
References
more
  • Summaries
    All 29
    Gene Ontology 2
    Phenotypes 11
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory