Gene

mlpha

ID
ZDB-GENE-050208-724
Name
melanophilin a
Symbol
mlpha Nomenclature History
Previous Names
  • mlphb
  • si:ch211-186m12.3 (1)
  • zgc:154096
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Predicted to enable actin binding activity and myosin binding activity. Acts upstream of or within pigment granule dispersal. Predicted to be active in cortical actin cytoskeleton. Is expressed in melanocyte. Human ortholog(s) of this gene implicated in Griscelli syndrome type 3. Orthologous to human MLPH (melanophilin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Sheets et al., 2007
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
j120Allele with one point mutationUnknownUnknownENU
sa16116Allele with one point mutationUnknownPremature StopENU
sa20675Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-mlpha
    DiNapoli et al., 2020
    MO1-mlphaN/ASheets et al., 2007
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    Human Disease
    Associated With mlpha Human Ortholog
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Griscelli syndrome type 3 Alliance Griscelli syndrome, type 3 609227
    Associated With mlpha Via Experimental Models
    No data available
    Gene Ontology
    Protein Domains
    Domain, Family, and Site Summary
    Type InterPro ID Name
    Domain IPR006788 Rab effector MyRIP/Melanophilin
    Domain IPR010911 Rab-binding domain
    Domain IPR037442 Melanophilin, FYVE-related domain
    Domain IPR041282 FYVE-type zinc finger
    Family IPR051745 Intracellular Transport Effector
    Homologous_superfamily IPR011011 Zinc finger, FYVE/PHD-type
    Homologous_superfamily IPR013083 Zinc finger, RING/FYVE/PHD-type
    Domain Details Per Protein
    Protein Additional Resources Length FYVE-type zinc finger Intracellular Transport Effector Melanophilin, FYVE-related domain Rab-binding domain Rab effector MyRIP/Melanophilin Zinc finger, FYVE/PHD-type Zinc finger, RING/FYVE/PHD-type
    UniProtKB:Q05AI5 InterPro 503
    UniProtKB:A0A8M2BGK5 InterPro 575
    UniProtKB:E7F2P6 InterPro 518
    UniProtKB:A0AB32TPU6 InterPro 531
    UniProtKB:A0AB32TPU8 InterPro 546
    UniProtKB:A0A8M2BFZ3 InterPro 603
    Transcripts
    Genome Browsers
    Genome Build: GRCz11Chromosome: 6
    Type Name Annotation Method Has Havana Data Length (nt) Analysis
    mRNA mlpha-201 (1) Ensembl 3,190 nt
    mRNA mlpha-202 (1) Ensembl 2,106 nt
    mRNA mlpha-203 (1) Ensembl 2,053 nt
    Interactions and Pathways
    No data available
    Antibodies
    No data available
    Plasmids
    No data available
    Constructs
    No data available
    Marker Relationships
    Relationship Marker Type Marker Accession Numbers Citations
    Contained inBACCH211-186M12ZFIN Curated Data
    EncodesESTIMAGE:7144073Thisse et al., 2004
    EncodescDNAMGC:154096ZFIN Curated Data
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanMLPH2
    Amino acid sequence comparison (2)
    Conserved genome location (synteny) (2)
    MouseMlph1
    Amino acid sequence comparison (1)
    Conserved genome location (synteny) (1)
    Citations
    1 - 10 of 15
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