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 have Rab GTPase binding activity; actin binding activity; and myosin binding activity. Involved in pigment granule dispersal. Predicted to localize to cortical actin cytoskeleton. Human ortholog(s) of this gene implicated in Griscelli syndrome type 3. Is expressed in melanocyte. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7144073 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Sheets et al., 2007
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

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	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	mlpha-201 (1) Ensembl	Ensembl	3,190 nt	Select Tool ZFIN BLAST
mRNA	mlpha-202 (1) Ensembl	Ensembl	2,106 nt	Select Tool
mRNA	mlpha-203 (1) Ensembl	Ensembl	2,053 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations