CHML - CHM like Rab escort protein Gene

Also Known as REP2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 1122

About CHML

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:241,628,851-241,640,369 (from NCBI)

This gene has 5 transcripts (splice variants), 155 orthologues and 3 paralogues.

Summary

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. [provided by RefSeq, Jul 2008]

CHML Products (3)

mRNA Protein Name
NM_001381853.1 NP_001368782.1 rab proteins geranylgeranyltransferase component A 2
NM_001381854.1 NP_001368783.1 rab proteins geranylgeranyltransferase component A 2
NM_001821.4 NP_001812.2 rab proteins geranylgeranyltransferase component A 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables small GTPase binding IDA
IDA: Inferred from direct assay
15186776 GOA
enables small GTPase binding IPI
IPI: Inferred from physical interaction
15186776 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in protein geranylgeranylation IDA
IDA: Inferred from direct assay
15186776 GOA
involved in protein geranylgeranylation IMP
IMP: Inferred from mutant phenotype
12356470 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of Rab-protein geranylgeranyltransferase complex IMP
IMP: Inferred from mutant phenotype
12356470 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHML Protein Structure

GDI

GDI: GDP dissociation inhibitor (6 - 67)

GDI

GDI: GDP dissociation inhibitor (223 - 533)

  • 0
  • 200
  • 400
  • 600
  • 656 a.a.
Protein Preferred Names Protein Names

rab proteins geranylgeranyltransferase component A 2

  • CHM like Rab escort protein 2

関連疾患

Diseases Alias
Choroideremia

  • CHM

  • Tcd

  • Progressive Tapetochoroidal Dystrophy

  • Choroidal Sclerosis

  • Tapetochoroidal Dystrophy, Progressive

  • Progressive Choroidal Atrophy

  • Tapetochoroidal Dystrophy
Holoprosencephaly 6

  • HPE6
Choroid Disease

  • Choroid Diseases

  • Abnormality Of The Choroid
Usher Syndrome

  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes
Holoprosencephaly 2

  • HPE2

  • Holoprosencephaly-2

  • Holoprosencephaly, Type 2
Dilated Cardiomyopathy 1t

  • Cmd1t

  • Cardiomyopathy, Dilated, 1t
Pseudohypoparathyroidism, Type Ib

  • Pseudohypoparathyroidism Type 1b

  • PHP1B

  • Pseudohypoparathyroidism Ib

  • Pseudohypoparathyroidism Type Ib

  • Php Ib

  • Pseudohypoparathyroidism 1b
Uveal Disease

  • Uveal Diseases
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS02637 CHML Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Bos taurus CHML VGNC VGNC:27298
Rattus norvegicus CHML RGD RGD:1596201
Mus musculus CHML MGD MGI:101913
Others CHML NCBI