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Browse our CHM Proteins (CHM)

Full name:
Choroideremia (Rab Escort Protein 1) Proteins (CHM)
On www.antibodies-online.com are 3 Choroideremia (Rab Escort Protein 1) (CHM) Proteins from 2 different suppliers available. Additionally we are shipping CHM Antibodies (33) and many more products for this protein. A total of 38 CHM products are currently listed.
Synonyms:
1110004P21Rik, 2810416M14Rik, 5730453G22Rik, 9030402K04Rik, AU021830, CHM, D4Ertd314e, DKFZp459K2154, DXS540, GGTA, Gm12940, HSD-32, MGC68578, OTTMUSG00000009329, PSF, Rep-1, REP1, TCD
list all proteins Gene Name GeneID UniProt
CHM 1121 P24386
CHM 24942 P37727
CHM 12662  

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CHM Proteins (CHM) by Origin

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More Proteins for CHM Interaction Partners

Zebrafish Choroideremia (Rab Escort Protein 1) (CHM) interaction partners

  1. The degenerative phenotype resulting from a null mutation in the zebrafish gene indicates that hair cells and retinal cells require Rab escort protein 1 for survival.

  2. The results of this study propose that in chm(-/-) zebrafish, maternally derived rep allows initial successful development of the embryo, but its gradual loss leads to multisystem disease and invariably to lethality.

Human Choroideremia (Rab Escort Protein 1) (CHM) interaction partners

  1. Six previously reported and five novel CHM mutations were detected in 11 Australian families clinically diagnosed with choroideremia.

  2. The family segregated a REP1 mutation, suggesting choroideremia (CHM).

  3. 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.

  4. 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.

  5. the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene, are reported.

  6. 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.

  7. Data found pathogenic DNA variants in the genes RP1 (show STK19 Proteins), USH2A, CNGB3 (show CNGB3 Proteins), NMNAT1 (show NMNAT1 Proteins), CHM, and ABCA4 (show ABCA4 Proteins), responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.

  8. These findings demonstrate a novel CHM mutation that emphasizes severe posterior pole carrier phenotypes, age-related changes, and early choroideremia disease.

  9. 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).

  10. We identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated with CHM that prevents REP1-Rab (show HRB Proteins) geranylgeranyl transferase interaction.

Mouse (Murine) Choroideremia (Rab Escort Protein 1) (CHM) interaction partners

  1. These results are compatible with the idea that SFPQ, plays an important role regulating proliferation and migration during the development of the cerebral cortex.

  2. these results show that PSF (show IL-3 Proteins) can repress the transcriptional activation of VEGF (show VEGFA Proteins) stimulated by IGF-1 (show IGF1 Proteins) via recruitment of the Hakai (show CBLL1 Proteins) complex

  3. Quantitative proteomics reveals dynamic interaction of JNK (show MAPK8 Proteins) with RNA transport granule proteins Sfpq and Nono (show NONO Proteins) during neuronal differentiation

  4. Loss of the Chm/Rep1 gene causes premature accumulation of features of aging in the retinal pigment epithelium.

  5. A protein complex was identified containing PSPC1 (show PSPC1 Proteins), PSF (show IL-3 Proteins) and LMX1B (show LMX1B Proteins), suggesting the existence of this complex in mesodiencephalic dopaminergic neurons.

  6. PSF (show IL-3 Proteins) contributes to the stability of a subset of histone genes and that loss of H2AE (show HIST1H2AJ Proteins) expression in the PSF (show IL-3 Proteins)-deficient thymocytes uniquely contributes to an increase in thymic apoptosis.

  7. analysis indicates PSF (show IL-3 Proteins) within the PER complex recruits SIN3A (show SIN3A Proteins), a scaffold for assembly of transcriptional inhibitory complexes, and the PER complex thereby rhythmically delivers histone deacetylases to the Per1 (show PER1 Proteins) promoter, which repress Per1 (show PER1 Proteins) transcription

  8. Basal and cyclic AMP (show TMPRSS5 Proteins)-induced Rbp4 (show RBP4 Proteins) transcription is regulated by a multiprotein complex that is similar to ones that modulate expression of genes of steroid hormone biosynthesis.

  9. identified as a protein kinase (show CDK7 Proteins) Calpha (show PRKACA Proteins)-binding protein in the cell nucleus

  10. PSPC1 (show PSPC1 Proteins), NONO (show NONO Proteins), and SFPQ form complexes with each other in Sertoli cells and may regulate androgen receptor (show AR Proteins)-mediated transcriptional activity

CHM Protein Profile

Protein Summary

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia\; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.

Alternative names and synonyms associated with CHM

  • choroideremia (Rab escort protein 1) (chm)
  • choroideremia (Rab escort protein 1) (CHM)
  • choroideremia (CHM)
  • choroideremia (Rab escort protein 1) (Chm)
  • choroidermia (Chm)
  • splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) (Sfpq)
  • 1110004P21Rik protein
  • 2810416M14Rik protein
  • 5730453G22Rik protein
  • 9030402K04Rik protein
  • AU021830 protein
  • CHM protein
  • D4Ertd314e protein
  • DKFZp459K2154 protein
  • DXS540 protein
  • GGTA protein
  • Gm12940 protein
  • HSD-32 protein
  • MGC68578 protein
  • OTTMUSG00000009329 protein
  • PSF protein
  • Rep-1 protein
  • REP1 protein
  • TCD protein

Protein level used designations for CHM

Rab escort protein 1 , rab proteins geranylgeranyltransferase component A 2 , choroideremia (Rab escort protein 1) , choroideremia , choroideremia protein , rab proteins geranylgeranyltransferase component A 1 , REP-1 , choroideraemia protein homolog , choroideremia protein homolog , choroidermia , rab escort protein 1 , DNA-binding p52/p100 complex, 100 kDa subunit , PTB-associated splicing factor , PTB-associated-splicing factor , polypyrimidine tract-binding protein-associated-splicing factor , splicing factor, proline- and glutamine-rich

GENE ID SPECIES
402935 Danio rerio
465737 Pan troglodytes
480972 Canis lupus familiaris
519552 Bos taurus
694499 Macaca mulatta
100171869 Pongo abelii
399048 Xenopus laevis
1121 Homo sapiens
24942 Rattus norvegicus
12662 Mus musculus
71514 Mus musculus
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