ENSG00000115648


Homo sapiens

Features
Gene ID: ENSG00000115648
  
Biological name :MLPH
  
Synonyms : melanophilin / MLPH / Q9BV36
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q37.3
Gene start: 237485428
Gene end: 237555318
  
Corresponding Affymetrix probe sets: 218211_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000403909
Ensembl peptide - ENSP00000399081
Ensembl peptide - ENSP00000405337
Ensembl peptide - ENSP00000412438
Ensembl peptide - ENSP00000409897
Ensembl peptide - ENSP00000409170
Ensembl peptide - ENSP00000264605
Ensembl peptide - ENSP00000341845
Ensembl peptide - ENSP00000386338
Ensembl peptide - ENSP00000386780
Ensembl peptide - ENSP00000393010
NCBI entrez gene - 79083     See in Manteia.
OMIM - 606526
RefSeq - XM_017004894
RefSeq - NM_001042467
RefSeq - NM_001281473
RefSeq - NM_001281474
RefSeq - NM_024101
RefSeq - XM_006712737
RefSeq - XM_006712739
RefSeq - XM_006712740
RefSeq - XM_011511812
RefSeq - XM_017004893
RefSeq Peptide - NP_077006
RefSeq Peptide - NP_001035932
RefSeq Peptide - NP_001268402
RefSeq Peptide - NP_001268403
swissprot - H7C3K9
swissprot - C9JKV5
swissprot - C9JI01
swissprot - A0A024R4D3
swissprot - H7C052
swissprot - H7C190
swissprot - H7C2D8
swissprot - Q9BV36
swissprot - A0A024R492
swissprot - H7C371
Ensembl - ENSG00000115648
  
Related genetic diseases (OMIM): 609227 - Griscelli syndrome, type 3, 609227
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
 mlphaENSDARG00000070991Danio rerio
 mlphbENSDARG00000062481Danio rerio
 MLPHENSGALG00000003904Gallus gallus
 MlphENSMUSG00000026303Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYRIP / Q8NFW9 / myosin VIIA and Rab interacting proteinENSG0000017001126
MOBP / Q13875 / myelin-associated oligodendrocyte basic proteinENSG000001683147


Protein motifs (from Interpro)
Interpro ID Name
 IPR006788  Rab effector MyRIP/Melanophilin
 IPR010911  Rab-binding domain
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR037442  Melanophilin, FYVE-related domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0030050 vesicle transport along actin filament IBA
 biological_processGO:0032402 melanosome transport NAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0030425 dendrite IDA
 cellular_componentGO:0030864 cortical actin cytoskeleton IBA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003779 actin binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017022 myosin binding IBA
 molecular_functionGO:0017137 Rab GTPase binding IPI
 molecular_functionGO:0030674 protein binding, bridging IPI
 molecular_functionGO:0046872 metal ion binding IEA


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:0001425 Heterogeneous 
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 HP:0002218 Silver-gray hair 
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 HP:0002227 White eyelashes 
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 HP:0004527 large clumps of pigment irregularly distributed along hair shaft 
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 HP:0005599 Hair hypopigmentation 
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 HP:0007443 Partial albinism 
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 HP:0007730 Reduced iris pigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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