CHML (gene)

Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene.[4][5]

CHML
Identifiers
AliasesCHML, REP2, choroideremia-like (Rab escort protein 2), CHM like, Rab escort protein 2, CHM like Rab escort protein
External IDsOMIM: 118825 MGI: 101913 HomoloGene: 31055 GeneCards: CHML
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q43Start241,628,853 bp[1]
End241,640,254 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1122

12663

Ensembl

ENSG00000203668

ENSMUSG00000078185

UniProt

P26374

Q9QZD5

RefSeq (mRNA)

NM_001821
NM_001381853
NM_001381854

NM_021350

RefSeq (protein)

NP_001812
NP_001368782
NP_001368783

NP_067325

Location (UCSC)Chr 1: 241.63 – 241.64 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II.[5]

Interactions

CHML (gene) has been shown to interact with RAB1A[6][7] and RAB5A.[6][7]

References

  1. GRCh38: Ensembl release 89: ENSG00000203668 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, et al. (July 1994). "Cloning and characterization of the human choroideremia gene". Human Molecular Genetics. 3 (7): 1041–6. doi:10.1093/hmg/3.7.1041. PMID 7981670.
  5. "Entrez Gene: CHML choroideremia-like (Rab escort protein 2)".
  6. Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, et al. (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. 37 (36): 12559–68. doi:10.1021/bi980881a. PMID 9730828.
  7. Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111–7. doi:10.1016/S0021-9258(17)42142-9. PMID 8294464.

Further reading

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