Property Summary

NCBI Gene PubMed Count 61
PubMed Score 282.35
PubTator Score 274.88

Knowledge Summary


No data available


  Differential Expression (15)

Disease log2 FC p
gastric cancer 1.100 4.4e-04
astrocytic glioma -1.500 1.9e-02
ependymoma -1.300 4.6e-02
oligodendroglioma -1.400 4.6e-02
osteosarcoma 2.444 2.3e-03
glioblastoma 1.400 7.6e-04
atypical teratoid / rhabdoid tumor -1.400 6.9e-06
medulloblastoma -1.400 2.9e-05
medulloblastoma, large-cell -2.100 8.8e-06
primitive neuroectodermal tumor -1.200 2.6e-04
tuberculosis and treatment for 3 months -1.200 1.1e-04
lung cancer 1.100 3.4e-02
pediatric high grade glioma 1.500 8.7e-06
lung carcinoma 1.400 9.5e-35
Gaucher disease type 1 -1.500 1.2e-02


Accession P24386 A1L4D2 O43732
Symbols TCD



PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (34)

26720468 The family segregated a REP1 mutation, suggesting choroideremia (CHM).
26216097 We report a novel CHM mutation, c.1475_1476insCA, identified by whole-exome sequencing in a family with X-linked CHM initially diagnosed as retinitis pigmentosa.
25912515 Six previously reported and five novel CHM mutations were detected in 11 Australian families clinically diagnosed with choroideremia.
24913019 Sanger sequencing confirmed the mutations in CHM, including four novel (c.558_559delTT, c.964G>T, c.966delA, c.1166+2T>G) and two known (c.7031G>A and c.1584_1587delTGTT) mutations.
24672218 the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene, are reported.
23940504 Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.
23273018 While likely an uncommon event, duplication within the CHM gene could be considered as an explanation for CHM cases in which no mutation is found by sequence analysis.
22965595 These findings demonstrate a novel CHM mutation that emphasizes severe posterior pole carrier phenotypes, age-related changes, and early choroideremia disease.
22355242 In Mainland Chinese families, the central visual acuity of male patients with CHM can be affected at an early age (second decade), whereas female CHM carriers may manifest signs and symptoms at a later age (>/= 45 years).
22025891 A novel mutation was detected in CHM gene in family 1. Another mutation within exon 14 of CHM was identified in family 2. The mutations caused night blindness, chorioretinal atrophy, and bareness of the sclera.
21990357 an interaction between a transmembrane receptor and RGGTA
21939745 It is suggested that expression levels of alternative transcripts of the CHM gene could be used as a molecular marker system to identify human cancers.
21905166 We identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated with CHM that prevents REP1-Rab geranylgeranyl transferase interaction.
20027300 Intracellular vesicle transport, lysosomal acidification and rates of proteolytic degradation were studied in Choroideremia patients carrying 10 different loss-of-function REP1 mutations.
19764077 CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.
19597113 The typical mottled irregularity in fundus autofluorescence is a valuable diagnostic criterion that facilitates specific genetic testing.
19427510 report pathogenic mutations: a novel missense mutation, L550P; a truncation c.1542T>A, STOP; and two deletions (c.525_526delAG and c.1646delC) in the CHM gene and their phenotypic effect in choroideremia
19422966 Genomic DNA from the living brother revealed a transition mutation, C to T, in exon 6 which resulted in a stop codon and was predicted to truncate the protein product.
19376587 All 6 carriers of CHM showed a characteristic FAF pattern that can guide mutation analysis.
18773267 A novel (967-970+2)delAAAGGT mutation existed in the CHM gene of a Japanese family with choroideremia.
18532927 When over-expressed in cells, REP wild-type and mutants are unable to form stable cytosolic complexes with endogenous unprenylated Rabs.
18487380 Fundus autofluorescence patterin is specific to syndromic choroideremia carriers and thus will help to identify and differentiate between carriers of other X-linked recessive carrier states such as in X-linked retinitis pigmentosa.
18385043 Novel type of mutation did not result in a truncated or absent protein. Rather, these patients lost different parts of the REP-1 mRNA in-frame that in all the cases encode a conserved protein domain implicated in the interaction with Rab proteins.
18087237 This is the first study reporting mutations in the CHM gene in Chinese families. Mutational analysis was performed at the DNA, mRNA and protein levels. Five truncating mutations were found, and two of these were novel.
17698759 Deletion of the CHM gene causes severe choroideremia. Results of serial ERGs and fundus examinations documented progression first of rod and then of cone disease.
16936131 The results represent in vivo evidence in humans for retinal remodeling and provide a marker for the earliest stage of this response to genetic retinal disease.
16087855 Normal electroretinogram is preserved in patients with nonsense mutation in exon 6 of the choroideremia CHM gene.
15579993 The authors found a 402delT and a 555-556delAG mutation in the CHM gene, one of which (402delT) is a novel mutation.
15465555 DNA analysis revealed that the patient was heterozygous for a previously undescribed substitution mutation at the 3'-splice site of intron 6 of the CHM gene (850-1 G to C), confirmed by mRNA analysis with reverse transcriptase polymerase chain reaction.
15242790 Chm is essential for diploid trophoblast development and plays a role in the vascularization in placenta and yolk sac
15186776 The C terminus of the REP-1 molecule functions as a mobile lid covering a conserved hydrophobic patch on the surface of REP-1 that in the complex coordinates the C terminus of Rab proteins.
14566650 Frameshift mutation of REP-1 gene is associated with choroideremia
12827496 We report for the first time the identification of an intronic mutation remote from the exon-intron junctions that creates a strong acceptor splice site and leads to the inclusion of a cryptic exon into the CHM mRNA.
11886217 In vitro assembly and purification of the stoichiometric ternary complex of RabGGTase with REP-1 stabilized by a hydrolysis-resistant phosphoisoprenoid analog--farnesyl phosphonyl(methyl)phoshonate.

AA Sequence

IPEANSETFKESTNLGNLEESSE                                                   631 - 653

Text Mined References (63)

PMID Year Title
26720468 2015 Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
26216097 2015 Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
25912515 2015 Genetic analysis of choroideremia families in the Australian population.
25722215 2015 Large gene deletion and changes in corneal endothelial cells in a family with choroideremia.
24913019 2014 Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
24672218 2014 Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
24556642 2014 Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
23273018 2013 Copy number variant analysis in CHM to detect duplications underlying choroideremia.
22965595 2012 Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
22355242 2012 Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.
22025891 2011 Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.
21990357 2011 Regulation of ?2-adrenergic receptor maturation and anterograde trafficking by an interaction with Rab geranylgeranyltransferase: modulation of Rab geranylgeranylation by the receptor.
21939745 2011 Quantitative analysis of transcript variants of CHM gene containing LTR12C element in humans.
21905166 2011 Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
20027300 2009 Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.
19764077 2009 CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.
19597113 2009 Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
19427510 2009 The functional effect of pathogenic mutations in Rab escort protein 1.
19422966 Choroideremia: new findings from ocular pathology and review of recent literature.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19376587 2009 Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
18773267 A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.
18532927 2008 Rab geranylgeranylation occurs preferentially via the pre-formed REP-RGGT complex and is regulated by geranylgeranyl pyrophosphate.
18487380 2008 Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
18385043 2008 New type of mutations in three spanish families with choroideremia.
18087237 2007 Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17698759 2007 Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.
16936131 2006 Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
16087855 2005 Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
15772651 2005 The DNA sequence of the human X chromosome.
15579993 2004 Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15465555 2004 Clinical findings in a carrier of a new mutation in the choroideremia gene.
15242790 2004 Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues.
15186776 2004 Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14566650 2003 Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.
12827496 2003 Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
12620235 2003 Structure of Rab escort protein-1 in complex with Rab geranylgeranyltransferase.
12576024 2003 Crystallization and preliminary X-ray diffraction analysis of monoprenylated Rab7 GTPase in complex with Rab escort protein 1.
12535645 2003 Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11297488 2001 Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia.
11141079 2001 Allosteric regulation of substrate binding and product release in geranylgeranyltransferase type II.
10022613 1999 Cytosolic RAB3D is associated with RAB escort protein (REP), not RAB-GDP dissociation inhibitor (GDI), in dispersed chief cells from guinea pig stomach.
9563513 1998 Moderate discrimination of REP-1 between Rab7 x GDP and Rab7 x GTP arises from a difference of an order of magnitude in dissociation rates.
9437002 1998 The putative "switch 2" domain of the Ras-related GTPase, Rab1B, plays an essential role in the interaction with Rab escort protein.
8477262 1993 Identification of mutations in Danish choroideremia families.
8380507 1993 Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.
8294464 1994 REP-2, a Rab escort protein encoded by the choroideremia-like gene.
7981670 1994 Cloning and characterization of the human choroideremia gene.
7957092 1994 Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes.
7951216 1994 Missense mutation in the choroideremia gene.
2220804 1990 Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.
2215697 1990 Cloning of a gene that is rearranged in patients with choroideraemia.
1904992 1991 Analysis of choroideraemia gene.
1598901 1992 Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.
1549574 1992 Isolation of a candidate gene for choroideremia.
1373238 1992 Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2.
1302003 1992 Aberrant splicing of the CHM gene is a significant cause of choroideremia.