Gene

mlphb

ID

ZDB-GENE-070803-2

Name

melanophilin b

Symbol

mlphb Nomenclature History

Previous Names

mlph (1)
mlpha
si:dkeyp-74a11.9

Type

protein_coding_gene

Location

Chr: 9 Mapping Details/Browsers

Description

Predicted to have Rab GTPase binding activity; actin binding activity; and myosin binding activity. Predicted to be involved in intracellular protein transport. Predicted to localize to cortical actin cytoskeleton. 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

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With mlphb 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 mlphb 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:A0A8M9PST1 InterPro	578
UniProtKB:A0A8M9QFY9 InterPro	579
UniProtKB:A0A8M9Q520 InterPro	548

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	mlphb-202 (1) Ensembl	Ensembl	1,889 nt	Select Tool
mRNA	mlphb-203 (1) Ensembl	Ensembl	1,838 nt	Select Tool ZFIN BLAST
mRNA	mlphb-204 (1) Ensembl	Ensembl	1,874 nt	Select Tool ZFIN BLAST
ncRNA	mlphb-002 (1) Ensembl	Ensembl	627 nt	Select Tool

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