ENSG00000183638


Homo sapiens

Features
Gene ID: ENSG00000183638
  
Biological name :RP1L1
  
Synonyms : RP1L1 / RP1 like 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: p23.1
Gene start: 10606349
Gene end: 10712187
  
Corresponding Affymetrix probe sets: 1555245_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000371923
NCBI entrez gene - 94137     See in Manteia.
OMIM - 608581
RefSeq - NM_178857
RefSeq Peptide - NP_849188
swissprot - A6NKC6
Ensembl - ENSG00000183638
  
Related genetic diseases (OMIM): 613587 - Occult macular dystrophy, 613587
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
 rp1l1aENSDARG00000089458Danio rerio
 rp1l1bENSDARG00000088377Danio rerio
 ENSGALG00000028138Gallus gallus
 Rp1l1ENSMUSG00000046049Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RP1 / P56715 / RP1, axonemal microtubule associatedENSG0000010423713
DCDC2 / Q9UHG0 / doublecortin domain containing 2ENSG000001460384
A8MYV0 / DCDC2C / doublecortin domain containing 2CENSG000002148663
A2VCK2 / DCDC2B / doublecortin domain containing 2BENSG000002220463


Protein motifs (from Interpro)
Interpro ID Name
 IPR003533  Doublecortin domain
 IPR036572  Doublecortin domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0035556 intracellular signal transduction IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0007754 Macular dystrophy 
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 HP:0007924 Slow decrease in visual acuity 
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 HP:0030468 Abnormal multifocal electroretinogram 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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