Mlph melanophilin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mlphprovided by RGD
Official Full Name: melanophilinprovided by RGD
Primary source: RGD:1310733
See related: Ensembl:ENSRNOG00000019763 AllianceGenome:RGD:1310733
Gene type: protein coding
RefSeq status: PROVISIONAL
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 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, Apr 2022]
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

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_086027.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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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)

NM_001012135.1 → NP_001012135.1 melanophilin

See identical proteins and their annotated locations for NP_001012135.1

Status: PROVISIONAL

Source sequence(s)

BC081894

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