CFHR3

Protein-coding gene in the species Homo sapiens
CFHR3
Identifiers
AliasesCFHR3, CFHL3, DOWN16, FHR-3, FHR3, HLF4, complement factor H related 3
External IDsOMIM: 605336; HomoloGene: 137347; GeneCards: CFHR3; OMA:CFHR3 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CFHR3
Genomic location for CFHR3
Band1q31.3Start196,774,813 bp[1]
End196,795,407 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of liver

  • left coronary artery

  • right coronary artery

  • popliteal artery

  • tibial nerve

  • gallbladder

  • ascending aorta

  • right lung

  • lymph node

  • left adrenal gland
    n/a
More reference expression data
BioGPS
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10878

n/a

Ensembl

ENSG00000116785

n/a

UniProt

Q02985

n/a

RefSeq (mRNA)

NM_001166624
NM_021023

n/a

RefSeq (protein)

NP_001160096
NP_066303

n/a

Location (UCSC)Chr 1: 196.77 – 196.8 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Complement factor H-related protein 3 is a protein that in humans is encoded by the CFHR3 gene.[3][4][5]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000116785 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Skerka C, Kuhn S, Gunther K, Lingelbach K, Zipfel PF (Mar 1993). "A novel short consensus repeat-containing molecule is related to human complement factor H". J Biol Chem. 268 (4): 2904–8. doi:10.1016/S0021-9258(18)53859-X. PMID 8428964.
  4. ^ Diaz-Guillen MA, Rodriguez de Cordoba S, Heine-Suner D (Jul 1999). "A radiation hybrid map of complement factor H and factor H-related genes". Immunogenetics. 49 (6): 549–52. doi:10.1007/s002510050534. PMID 10380701. S2CID 31776506.
  5. ^ "Entrez Gene: CFHR3 complement factor H-related 3".

Further reading

  • Zipfel PF, Skerka C (1994). "Complement factor H and related proteins: an expanding family of complement-regulatory proteins?". Immunol. Today. 15 (3): 121–6. doi:10.1016/0167-5699(94)90155-4. PMID 8172644.
  • Hellwage J, Jokiranta TS, Koistinen V, et al. (2000). "Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin". FEBS Lett. 462 (3): 345–52. doi:10.1016/S0014-5793(99)01554-9. PMID 10622723. S2CID 41308410.
  • Male DA, Ormsby RJ, Ranganathan S, et al. (2000). "Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes". Mol. Immunol. 37 (1–2): 41–52. doi:10.1016/S0161-5890(00)00024-9. PMID 10781834.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
  • Zipfel PF, Edey M, Heinen S, et al. (2007). "Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome". PLOS Genet. 3 (3): e41. doi:10.1371/journal.pgen.0030041. PMC 1828695. PMID 17367211.

External links

  • GeneReviews/NCBI/NIH/UW entry on Atypical Hemolytic-Uremic Syndrome
  • OMIM entries on Atypical Hemolytic-Uremic Syndrome
  • Human CFHR3 genome location and CFHR3 gene details page in the UCSC Genome Browser.


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