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Mlph melanophilin [ Mus musculus (house mouse) ]

Gene ID: 171531, updated on 18-Jun-2024

Summary

Official Symbol
Mlphprovided by MGI
Official Full Name
melanophilinprovided by MGI
Primary source
MGI:MGI:2176380
See related
Ensembl:ENSMUSG00000026303 AllianceGenome:MGI:2176380
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ln; l1Rk3; Slac-2a; D1Wsu84e; l(1)-3Rk; 2210418F23Rik; 5031433I09Rik
Summary
Enables cytoskeletal protein binding activity and small GTPase binding activity. Acts upstream of or within melanocyte differentiation; melanosome localization; and protein targeting. Located in cytoskeleton and melanosome. Part of unconventional myosin complex. Is expressed in several structures, including genitourinary system; gut; liver; lung; and spleen. Human ortholog(s) of this gene implicated in Griscelli syndrome type 3. Orthologous to human MLPH (melanophilin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in stomach adult (RPKM 29.6), colon adult (RPKM 16.0) and 9 other tissues See more
Orthologs
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Genomic context

See Mlph in Genome Data Viewer
Location:
1 D; 1 45.73 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (90842750..90878864)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (90915024..90951142)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene collagen, type VI, alpha 3 Neighboring gene STARR-seq mESC enhancer starr_01688 Neighboring gene STARR-seq mESC enhancer starr_01689 Neighboring gene predicted gene, 35381 Neighboring gene prolactin releasing hormone Neighboring gene RAB17, member RAS oncogene family

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (2) 
  • Endonuclease-mediated (3) 
  • Spontaneous (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables microtubule plus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
enables microtubule plus-end binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables molecular adaptor activity EXP
Inferred from Experiment
more info
PubMed 
enables molecular adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables myosin V binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables myosin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables myosin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables myosin binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cortical actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in dendrite ISO
Inferred from Sequence Orthology
more info
 
located_in melanosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome TAS
Traceable Author Statement
more info
PubMed 
located_in microtubule organizing center IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in stress fiber IDA
Inferred from Direct Assay
more info
PubMed 
part_of unconventional myosin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
melanophilin
Names
exophilin-3
leaden protein
slaC2-a
slp homolog lacking C2 domains a
synaptotagmin-like protein 2a

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_053015.3NP_443748.2  melanophilin

    See identical proteins and their annotated locations for NP_443748.2

    Status: VALIDATED

    Source sequence(s)
    AC118682, AK019883, AK148274
    Consensus CDS
    CCDS15155.1
    UniProtKB/TrEMBL
    A0A0R4J075, B9EKA5
    Related
    ENSMUSP00000027528.7, ENSMUST00000027528.7
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:445497
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    90842750..90878864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006529231.5XP_006529294.1  melanophilin isoform X1

    UniProtKB/TrEMBL
    B9EKA5
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:444496
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus