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MLPH melanophilin [ Ovis aries (sheep) ]

Gene ID: 100272215, updated on 10-Oct-2024

Summary

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Gene symbol
MLPH
Gene description
melanophilin
See related
EnsemblRapid:ENSOARG00020002225
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Ovis aries
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
Orthologs
human mouse all
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Genomic context

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See MLPH in Genome Data Viewer
Location:
chromosome: 1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current ARS-UI_Ramb_v3.0 (GCF_016772045.2) 1 NC_056054.1 (3645641..3692361, complement)

Chromosome 1 - NC_056054.1Genomic Context describing neighboring genes Neighboring gene RAB17, member RAS oncogene family Neighboring gene prolactin releasing hormone Neighboring gene collagen type VI alpha 3 chain Neighboring gene transfer RNA cysteine (anticodon ACA)

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_056054.1 Chromosome 1 Reference ARS-UI_Ramb_v3.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A Stop-Gain Mutation within MLPH Is Responsible for the Lilac Dilution Observed in Jacob Sheep. Posbergh CJ, et al. Genes (Basel), 2020 Jun 4. PMID 32512769, Free PMC Article
  2. Characterization and SNP identification of part of the goat melanophilin gene. Feng FJ, et al. Biochem Genet, 2009 Apr. PMID 19169807
  3. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
  4. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Stop-Gain Mutation within MLPH Is Responsible for the Lilac Dilution Observed in Jacob Sheep.
    Title: A Stop-Gain Mutation within MLPH Is Responsible for the Lilac Dilution Observed in Jacob Sheep.
Submit: New GeneRIF Correction

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables myosin binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in cortical actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 PubMed 

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_001146271.1 → NP_001139743.1  melanophilin

    See identical proteins and their annotated locations for NP_001139743.1

    Status: PROVISIONAL

    Source sequence(s)
    EU316219
    UniProtKB/TrEMBL
    A0A6P9FQJ9, A0A836AEX8, C1IC57
    Related
    ENSOARP00020002832.2, ENSOART00020003406.2
    Conserved Domains (2) summary
    pfam02318
    Location:8 → 125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:465 → 597
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

RefSeqs of Annotated Genomes: GCF_016772045.2-RS_2023_10

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

Reference ARS-UI_Ramb_v3.0 Primary Assembly

Genomic

  1. NC_056054.1 Reference ARS-UI_Ramb_v3.0 Primary Assembly

    Range
    3645641..3692361 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_027959101.3 → XP_027814902.2  melanophilin isoform X2

    UniProtKB/TrEMBL
    A0A836AEX8
    Related
    ENSOARP00020002841.2, ENSOART00020003418.2
    Conserved Domains (1) summary
    cd15752
    Location:62 → 137
    FYVE_SlaC2-a; FYVE-related domain found in Slp homolog lacking C2 domains a (SlaC2-a) and similar proteins

  2. XM_027958636.3 → XP_027814437.2  melanophilin isoform X1

    UniProtKB/TrEMBL
    A0A836AEX8
    Conserved Domains (1) summary
    cd15752
    Location:62 → 137
    FYVE_SlaC2-a; FYVE-related domain found in Slp homolog lacking C2 domains a (SlaC2-a) and similar proteins

  3. XM_060398009.1 → XP_060253992.1  melanophilin isoform X1

Nucleotide Protein Strain
Heading Accession and Version

Gene LinkOut

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