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 chicken; 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; chr2:238395878-238463961 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MLPH

Alleles and phenotypes

All alleles(7) : Targeted(3) Gene trapped(1) Spontaneous(1) Chemically induced(2)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Process	intracellular protein transport, melanocyte differentiation, ...
Component	actin cytoskeleton, cortical actin cytoskeleton, ...
Function	actin binding, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (39)    Tissues (19)    Images (3)
Theiler Stages: 10, 11, 18, 23, 25, 28

Assay Type	Results
Northern blot	21
RT-PCR	18

cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(36) cDNA(34) Primer pair(2)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000022397 (Evidence)
Ensembl Gene Model	ENSMUSG00000026303 (Evidence)
Entrez Gene	171531 (Evidence)
UniGene	105208
DFCI	TC1582153
DoTS	DT.55212622, DT.91316222, DT.97366228
NIA Mouse Gene Index	U000596
PDB	2ZET
Consensus CDS Project	CCDS15155.1
International Mouse Knockout Project Status	Mlph

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022397	VEGA Gene Model | MGI Sequence Detail	36058	C57BL/6J
transcript	OTTMUST00000053516	VEGA | MGI Sequence Detail	4499	Not Applicable
polypeptide	OTTMUSP00000025451	VEGA | MGI Sequence Detail	590	Not Applicable

All sequences(35) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(267 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(107)

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