C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: choroideremia (Rab escort protein 1)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000188419 CHM 9606 - X:85861180-86047562 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000357749 CHM-001 85861180-86047562 protein_coding
  ENST00000467744 CHM-004 85861181-86047305 processed_transcript
  ENST00000483950 CHM-003 86026958-86047561 processed_transcript
  ENST00000487515 CHM-005 85978656-85981809 processed_transcript
  ENST00000615443 CHM-002 85969087-86047539 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000357749ENST00000467744ENST00000615443
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000357749 1.961±0.00 1.566±0.00 2.437±0.00 4.038±0.06 2.999±1.16 1.966±0.56 1.202±0.83 1.977±0.95 1.352±0.69 1.136±0.27 1.623±0.00 1.539±0.30 1.251±0.01 1.632±0.00
ENST00000467744 N/A 1.100±0.00 3.385±0.00 N/A 0.678±0.00 0.576±0.00 N/A 2.573±0.00 1.030±0.00 0.972±0.00 N/A 1.996±0.00 0.589±0.10 0.540±0.00
ENST00000615443 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.574±0.18

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0003KH CIL_0003KH_0001 CGP X:85277396-86047562
CIL_0003LE CIL_0003LE_0001 CGP X:85861180-86832604

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001568 IEA blood vessel development
GO:0004663 IEA Rab geranylgeranyltransferase activity
GO:0005096 IEA GTPase activator activity
GO:0005829 IMP cytosol
GO:0005968 IDA Rab-protein geranylgeranyltransferase complex
GO:0006612 IMP protein targeting to membrane
GO:0007601 IEA visual perception
GO:0017137 IDA Rab GTPase binding
GO:0018344 IDA protein geranylgeranylation
GO:0043547 IEA positive regulation of GTPase activity
GO:0050896 IEA response to stimulus

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000003845 chm choroideremia (Rab escort protein 1) protein_coding Danio_rerio
ENSMUSG00000025531 Chm choroidermia protein_coding Mus_musculus

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