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Mlph melanophilin [ Rattus norvegicus (Norway rat) ]

Gene ID: 316620, updated on 27-Nov-2024

Summary

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Official Symbol
Mlphprovided by RGD
Official Full Name
melanophilinprovided by RGD
Primary source
RGD:1310733
See related
EnsemblRapid:ENSRNOG00000019763 AllianceGenome:RGD:1310733
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable cytoskeletal protein binding activity; protein-macromolecule adaptor activity; and small GTPase binding activity. Predicted to be involved in intracellular protein transport. Predicted to act upstream of or within melanocyte differentiation; melanosome localization; and protein targeting. Predicted to be located in several cellular components, including cytoskeleton; melanosome; and perinuclear region of cytoplasm. Predicted to be part of unconventional myosin complex. Predicted to be active in cortical actin cytoskeleton. Human ortholog(s) of this gene implicated in Griscelli syndrome type 3. Orthologous to human MLPH (melanophilin). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in Kidney (RPKM 53.6), Testes (RPKM 43.5) and 4 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Mlph in Genome Data Viewer
Location:
9q36
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 9 NC_086027.1 (98955036..98990566)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 9 NC_051344.1 (91507410..91542984)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 9 NC_005108.4 (98072965..98108429)

Chromosome 9 - NC_086027.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134480410 Neighboring gene uncharacterized LOC134480411 Neighboring gene collagen type VI alpha 3 chain Neighboring gene prolactin releasing hormone Neighboring gene RAB17, member RAS oncogene family

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Identification of a minimal myosin Va binding site within an intrinsically unstructured domain of melanophilin. Geething NC, et al. J Biol Chem, 2007 Jul 20. PMID 17513864
  2. The structural basis of myosin V processive movement as revealed by electron cryomicroscopy. Volkmann N, et al. Mol Cell, 2005 Sep 2. PMID 16137617
  3. Identification of an organelle receptor for myosin-Va. Wu XS, et al. Nat Cell Biol, 2002 Apr. PMID 11887186
  4. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Hume AN, et al. Traffic, 2002 Mar. PMID 11886590
  5. Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Matesic LE, et al. Proc Natl Acad Sci U S A, 2001 Aug 28. PMID 11504925, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables actin binding ISO
Inferred from Sequence Orthology
more info
  
enables microtubule plus-end binding ISO
Inferred from Sequence Orthology
more info
  
enables molecular adaptor activity ISO
Inferred from Sequence Orthology
more info
  
enables myosin V binding ISO
Inferred from Sequence Orthology
more info
  
enables myosin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables myosin binding ISO
Inferred from Sequence Orthology
more info
  
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
  
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within melanocyte differentiation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within melanosome localization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within pigmentation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein targeting ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
  
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cortical actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
  
located_in dendrite ISO
Inferred from Sequence Orthology
more info
  
located_in melanosome ISO
Inferred from Sequence Orthology
more info
  
located_in microtubule organizing center ISO
Inferred from Sequence Orthology
more info
  
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in stress fiber ISO
Inferred from Sequence Orthology
more info
  
part_of unconventional myosin complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
melanophilin

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_001012135.2 → NP_001012135.1  melanophilin isoform 2

    See identical proteins and their annotated locations for NP_001012135.1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000009
    UniProtKB/TrEMBL
    A0A8J8XSU2, A6JQM9
    Conserved Domains (2) summary
    pfam02318
    Location:8 → 125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:307 → 496
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

  2. NM_001432140.1 → NP_001419069.1  melanophilin isoform 1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000009
    UniProtKB/TrEMBL
    A6JQM8, G3V8M0, Q66HE9

  3. NM_001432141.1 → NP_001419070.1  melanophilin isoform 3

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000009
    UniProtKB/TrEMBL
    A0A8I6AP30

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086027.1 Reference GRCr8

    Range
    98955036..98990566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_063267316.1 → XP_063123386.1  melanophilin isoform X3

  2. XM_063267315.1 → XP_063123385.1  melanophilin isoform X2

    Related
    ENSRNOP00000090744.1, ENSRNOT00000096955.2

  3. XM_006245404.5 → XP_006245466.1  melanophilin isoform X1

    Related
    ENSRNOP00000026795.7, ENSRNOT00000026795.9
    Conserved Domains (2) summary
    pfam02318
    Location:8 → 125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:445 → 497
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
Nucleotide Protein Strain
Heading Accession and Version

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