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    Mlph melanophilin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 316620, updated on 9-Dec-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, Dec 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, A6JQM9, G3V8M0, Q66HE9

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

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000009
      UniProtKB/TrEMBL
      A0A8I6AP30, A6JQM9

    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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