ENSG00000157869


Homo sapiens

Features
Gene ID: ENSG00000157869
  
Biological name :RAB28
  
Synonyms : P51157 / RAB28 / RAB28, member RAS oncogene family
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p15.33
Gene start: 13361354
Gene end: 13484365
  
Corresponding Affymetrix probe sets: 207495_at (Human Genome U133 Plus 2.0 Array)   209084_s_at (Human Genome U133 Plus 2.0 Array)   227003_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000485808
Ensembl peptide - ENSP00000424091
Ensembl peptide - ENSP00000424899
Ensembl peptide - ENSP00000288723
Ensembl peptide - ENSP00000328551
Ensembl peptide - ENSP00000340079
Ensembl peptide - ENSP00000422816
Ensembl peptide - ENSP00000424043
NCBI entrez gene - 9364     See in Manteia.
OMIM - 612994
RefSeq - XM_017008850
RefSeq - NM_001017979
RefSeq - NM_001159601
RefSeq - NM_004249
RefSeq - XM_011513911
RefSeq - XM_011513912
RefSeq Peptide - NP_001017979
RefSeq Peptide - NP_001153073
RefSeq Peptide - NP_004240
swissprot - H0Y9G4
swissprot - H0Y9S6
swissprot - P51157
swissprot - Q8WVF3
swissprot - H0Y927
Ensembl - ENSG00000157869
  
Related genetic diseases (OMIM): 615374 - Cone-rod dystrophy 18, 615374
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 RAB28ENSGALG00000014931Gallus gallus
 Rab28ENSMUSG00000029128Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001806  Small GTPase superfamily
 IPR005225  Small GTP-binding protein domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:1901998 toxin transport IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0035253 ciliary rootlet ISS
 cellular_componentGO:0036064 ciliary basal body ISS
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019003 GDP binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000603 Central scotoma 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0008001 Foveal hyperpigmentation 
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 HP:0011003 Severe Myopia 
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 HP:0025010 Foveal atrophy "Partial or complete loss of foveal tissue that was once present." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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