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Mlph
Gene Detail
Symbol

Name
ID
Mlph
melanophilin
MGI:2176380
Synonyms
2210418F23Rik, 5031433I09Rik, D1Wsu84e, l(1)-3Rk, l1Rk3, Slac-2a
Feature Type
protein coding gene
Genetic Map
Chromosome 1
45.73 cM
Detailed Genetic Map ± 1 cM


Mapping data(83)
Sequence Map
Chr1:90915085-90951142 bp, + strand
From VEGA annotation of GRCm38

  36058 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11465  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Mlph

Human
homologs
Human Homolog MLPH, melanophilin
NCBI Gene ID 79083
neXtProt AC  NX_Q9BV36
Human Synonyms  SLAC2-A
Human Chr (Location)  2q37.3; chr2:237486410-237555318 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human MLPH
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(1) Chemically induced (other)(1) Gene trapped(1) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development.
 
Phenotype Images(1)
Interactions
Mlph interacts with 279 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process intracellular protein transport, melanocyte differentiation, ...
Component actin cytoskeleton, cell, ...
Function actin binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (39)    Tissues (19)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
Northern blot 21
RT-PCR 18
cDNA source data(34)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(36) cDNA(34) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000022397 (Evidence)
Ensembl Gene ModelENSMUSG00000026303 (Evidence)
Entrez Gene171531 (Evidence)
UniGene105208
DFCITC1582153
DoTSDT.55212622, DT.91316222, DT.97366228
NIA Mouse Gene IndexU000596
PDB2ZET, 4KP3, 4LX2
Consensus CDS ProjectCCDS15155.1
International Mouse Knockout Project StatusMlph
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022397 VEGA Gene Model | MGI Sequence Detail 36058 C57BL/6J ±  kb
transcript OTTMUST00000053516 VEGA | MGI Sequence Detail 4499 Not Applicable 
polypeptide OTTMUSP00000025451 VEGA | MGI Sequence Detail 590 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(343 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010911 Rab-binding domain
InterPro IPR006788 Rab effector MyRIP/Melanophilin
InterPro IPR011011 Zinc finger, FYVE/PHD-type
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
Protein Ontology PR:000010456 melanophilin
References
(Earliest) J:17162 Murray JM, "Leaden", a recent color mutation in the house mouse. Am Naturalist. 1933;67:278-283
(Latest) J:211540 Singh RK, et al., Distinct and opposing roles for Rab27a/Mlph/MyoVa and Rab27b/Munc13-4 in mast cell secretion. FEBS J. 2013 Feb;280(3):892-903
All references(110)
Other
accession IDs
MGD-MRK-11670, MGD-MRK-11713, MGD-MRK-11834, MGD-MRK-34264, MGI:106570, MGI:1917398, MGI:1926061, MGI:2138582, MGI:2151781, MGI:96801

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory