Human Gene CHML (ENST00000366553.3) Description and Page Index
  Description: Homo sapiens CHM like Rab escort protein (CHML), transcript variant 3, mRNA. (from RefSeq NM_001821)
Gencode Transcript: ENST00000366553.3
Gencode Gene: ENSG00000203668.3
Transcript (Including UTRs)
   Position: hg38 chr1:241,628,851-241,640,369 Size: 11,519 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr1:241,633,796-241,635,766 Size: 1,971 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsProtein StructureOther NamesMethods
Data last updated at UCSC: 2021-06-20 19:51:40

+  Sequence and Links to Tools and Databases
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-  Comments and Description Text from UniProtKB
  ID: RAE2_HUMAN
DESCRIPTION: RecName: Full=Rab proteins geranylgeranyltransferase component A 2; AltName: Full=Choroideraemia-like protein; AltName: Full=Rab escort protein 2; Short=REP-2;
FUNCTION: Binds unprenylated Rab proteins, presents it to the catalytic Rab GGTase dimer, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than REP-1 in supporting prenylation of Rab3 family.
SUBUNIT: Monomer. Interacts with Rab and Rab GGTase.
MISCELLANEOUS: Substitutes for REP-1 thereby preventing widespread tissue abnormalities in patients with choroideremia who lack REP- 1.
SIMILARITY: Belongs to the Rab GDI family.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018203 - GDP_dissociation_inhibitor
IPR001738 - Rab_escort
IPR016664 - Rab_geranylTrfase_A_euk

Pfam Domains:
PF00996 - GDP dissociation inhibitor

ModBase Predicted Comparative 3D Structure on P26374
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-  Other Names for This Gene
  UCSC ID: ENST00000366553.3
Representative RNA: NM_001821
Protein: P26374 (aka RAE2_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.