UniProtKB - Q8N565 (MREG_HUMAN)
Protein
Melanoregulin
Gene
MREG
Organism
Homo sapiens (Human)
Status
Functioni
Probably functions as cargo-recognition protein that couples cytoplasmic vesicles to the transport machinery. Plays a role in hair pigmentation, a process that involves shedding of melanosome-containing vesicles from melanocytes, followed by phagocytosis of the melanosome-containing vesicles by keratinocytes. Functions on melanosomes as receptor for RILP and the complex formed by RILP and DCTN1, and thereby contributes to retrograde melanosome transport from the cell periphery to the center. Overexpression causes accumulation of late endosomes and/or lysosomes at the microtubule organising center (MTOC) at the center of the cell. Probably binds cholesterol and requires the presence of cholesterol in membranes to function in microtubule-mediated retrograde organelle transport. Binds phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate and phosphatidylinositol 3,5-bisphosphate, but not phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 4,5-bisphosphate (By similarity). Required for normal phagosome clearing and normal activation of lysosomal enzymes in lysosomes from retinal pigment epithelium cells (PubMed:19240024). Required for normal degradation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) in the eye. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity).By similarity1 Publication
GO - Molecular functioni
- phosphatidylinositol binding Source: UniProtKB
GO - Biological processi
- melanocyte differentiation Source: GO_Central
- melanosome localization Source: UniProtKB
- melanosome transport Source: GO_Central
- minus-end-directed organelle transport along microtubule Source: Ensembl
- phagosome maturation Source: UniProtKB
Keywordsi
Biological process | Transport |
Ligand | Lipid-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8N565 |
Names & Taxonomyi
Protein namesi | Recommended name: MelanoregulinAlternative name(s): Dilute suppressor protein homolog |
Gene namesi | Name:MREG Synonyms:DSU ORF Names:HDCGA21P |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25478, MREG |
MIMi | 609207, gene |
neXtProti | NX_Q8N565 |
VEuPathDBi | HostDB:ENSG00000118242.15 |
Subcellular locationi
Lysosome
- Lysosome membrane By similarity; Lipid-anchor By similarity
Plasma membrane
- Apical cell membrane By similarity; Peripheral membrane protein By similarity
Other locations
- Melanosome membrane By similarity; Lipid-anchor By similarity
- Cytoplasmic vesicle membrane By similarity
Note: Localizes to the inner segment and basal outer segment of rods in the retina.By similarity
Endosome
- late endosome membrane Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB-SubCell
Plasma Membrane
- apical plasma membrane Source: UniProtKB-SubCell
Other locations
- cytoplasmic vesicle membrane Source: UniProtKB
- intrinsic component of organelle membrane Source: UniProtKB
- melanosome Source: GO_Central
- melanosome membrane Source: UniProtKB
- protein-containing complex Source: Ensembl
Keywords - Cellular componenti
Cell membrane, Cytoplasmic vesicle, Lysosome, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 55686 |
OpenTargetsi | ENSG00000118242 |
PharmGKBi | PA162396174 |
Miscellaneous databases
Pharosi | Q8N565, Tbio |
Genetic variation databases
BioMutai | MREG |
DMDMi | 74751016 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000292175 | 1 – 214 | MelanoregulinAdd BLAST | 214 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 213 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Palmitoylated. Palmitoylation is required to maintain the protein at the melanosome membrane.By similarity
Keywords - PTMi
Lipoprotein, Palmitate, PhosphoproteinProteomic databases
EPDi | Q8N565 |
jPOSTi | Q8N565 |
MassIVEi | Q8N565 |
MaxQBi | Q8N565 |
PaxDbi | Q8N565 |
PeptideAtlasi | Q8N565 |
PRIDEi | Q8N565 |
ProteomicsDBi | 72005 [Q8N565-1] 72006 [Q8N565-2] |
PTM databases
iPTMneti | Q8N565 |
PhosphoSitePlusi | Q8N565 |
SwissPalmi | Q8N565 |
Expressioni
Tissue specificityi
Expressed in photoreceptor cells (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000118242, Expressed in visceral pleura and 196 other tissues |
ExpressionAtlasi | Q8N565, baseline and differential |
Genevisiblei | Q8N565, HS |
Organism-specific databases
HPAi | ENSG00000118242, Low tissue specificity |
Interactioni
Subunit structurei
Identified in a complex with RILP and DCTN1; interacts directly with RILP, but does not interact directly with DCTN1.
Interacts with PRPH2.
By similarityBinary interactionsi
Q8N565
With | #Exp. | IntAct |
---|---|---|
EIF1AD [Q8N9N8] | 3 | EBI-10978787,EBI-750700 |
Protein-protein interaction databases
BioGRIDi | 120813, 13 interactors |
IntActi | Q8N565, 9 interactors |
STRINGi | 9606.ENSP00000484331 |
Miscellaneous databases
RNActi | Q8N565, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 162 – 172 | Cholesterol-binding sequence motifBy similarityAdd BLAST | 11 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 11 – 18 | Cys-rich | 8 |
Sequence similaritiesi
Belongs to the melanoregulin family.Curated
Phylogenomic databases
eggNOGi | ENOG502S05X, Eukaryota |
GeneTreei | ENSGT00390000008926 |
HOGENOMi | CLU_105265_0_0_1 |
InParanoidi | Q8N565 |
OMAi | MGLRAWL |
OrthoDBi | 1250643at2759 |
PhylomeDBi | Q8N565 |
TreeFami | TF334733 |
Family and domain databases
InterProi | View protein in InterPro IPR031638, Melanoregulin |
PANTHERi | PTHR34340, PTHR34340, 1 hit |
Pfami | View protein in Pfam PF15812, MREG, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8N565-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGLRDWLRTV CCCCGCECLE ERALPEKEPL VSDNNPYSSF GATLVRDDEK
60 70 80 90 100
NLWSMPHDVS HTEADDDRTL YNLIVIRNQQ AKDSEEWQKL NYDIHTLRQV
110 120 130 140 150
RREVRNRWKC ILEDLGFQKE ADSLLSVTKL STISDSKNTR KAREMLLKLA
160 170 180 190 200
EETNIFPTSW ELSERYLFVV DRLIALDAAE EFFKLARRTY PKKPGVPCLA
210
DGQKELHYLP FPSP
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JAG4 | C9JAG4_HUMAN | Melanoregulin | MREG | 129 | Annotation score: | ||
C9JFU1 | C9JFU1_HUMAN | Melanoregulin | MREG | 115 | Annotation score: | ||
C9JYV9 | C9JYV9_HUMAN | Melanoregulin | MREG | 119 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 154 | N → S in BAA91453 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 156 | F → L in AAF65179 (Ref. 4) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053923 | 15 | G → R2 PublicationsCorresponds to variant dbSNP:rs1864253Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026387 | 208 – 214 | YLPFPSP → LWGDLSCRLAHMQGVLH in isoform 2. 1 Publication | 7 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK000978 mRNA Translation: BAA91453.1 AC010686 Genomic DNA Translation: AAY14656.1 AC093382 Genomic DNA Translation: AAY14719.1 BC032747 mRNA Translation: AAH32747.1 BC082990 mRNA Translation: AAH82990.1 AF068290 mRNA Translation: AAF65179.1 |
CCDSi | CCDS46513.1 [Q8N565-1] |
RefSeqi | NP_060470.2, NM_018000.2 [Q8N565-1] |
Genome annotation databases
Ensembli | ENST00000263268; ENSP00000263268; ENSG00000118242 [Q8N565-1] ENST00000620139; ENSP00000484331; ENSG00000118242 [Q8N565-1] |
GeneIDi | 55686 |
KEGGi | hsa:55686 |
UCSCi | uc002vfo.4, human [Q8N565-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK000978 mRNA Translation: BAA91453.1 AC010686 Genomic DNA Translation: AAY14656.1 AC093382 Genomic DNA Translation: AAY14719.1 BC032747 mRNA Translation: AAH32747.1 BC082990 mRNA Translation: AAH82990.1 AF068290 mRNA Translation: AAF65179.1 |
CCDSi | CCDS46513.1 [Q8N565-1] |
RefSeqi | NP_060470.2, NM_018000.2 [Q8N565-1] |
3D structure databases
SMRi | Q8N565 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120813, 13 interactors |
IntActi | Q8N565, 9 interactors |
STRINGi | 9606.ENSP00000484331 |
PTM databases
iPTMneti | Q8N565 |
PhosphoSitePlusi | Q8N565 |
SwissPalmi | Q8N565 |
Genetic variation databases
BioMutai | MREG |
DMDMi | 74751016 |
Proteomic databases
EPDi | Q8N565 |
jPOSTi | Q8N565 |
MassIVEi | Q8N565 |
MaxQBi | Q8N565 |
PaxDbi | Q8N565 |
PeptideAtlasi | Q8N565 |
PRIDEi | Q8N565 |
ProteomicsDBi | 72005 [Q8N565-1] 72006 [Q8N565-2] |
Protocols and materials databases
Antibodypediai | 34232, 171 antibodies |
DNASUi | 55686 |
Genome annotation databases
Ensembli | ENST00000263268; ENSP00000263268; ENSG00000118242 [Q8N565-1] ENST00000620139; ENSP00000484331; ENSG00000118242 [Q8N565-1] |
GeneIDi | 55686 |
KEGGi | hsa:55686 |
UCSCi | uc002vfo.4, human [Q8N565-1] |
Organism-specific databases
CTDi | 55686 |
DisGeNETi | 55686 |
GeneCardsi | MREG |
HGNCi | HGNC:25478, MREG |
HPAi | ENSG00000118242, Low tissue specificity |
MIMi | 609207, gene |
neXtProti | NX_Q8N565 |
OpenTargetsi | ENSG00000118242 |
PharmGKBi | PA162396174 |
VEuPathDBi | HostDB:ENSG00000118242.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S05X, Eukaryota |
GeneTreei | ENSGT00390000008926 |
HOGENOMi | CLU_105265_0_0_1 |
InParanoidi | Q8N565 |
OMAi | MGLRAWL |
OrthoDBi | 1250643at2759 |
PhylomeDBi | Q8N565 |
TreeFami | TF334733 |
Enzyme and pathway databases
PathwayCommonsi | Q8N565 |
Miscellaneous databases
BioGRID-ORCSi | 55686, 10 hits in 875 CRISPR screens |
ChiTaRSi | MREG, human |
GenomeRNAii | 55686 |
Pharosi | Q8N565, Tbio |
PROi | PR:Q8N565 |
RNActi | Q8N565, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000118242, Expressed in visceral pleura and 196 other tissues |
ExpressionAtlasi | Q8N565, baseline and differential |
Genevisiblei | Q8N565, HS |
Family and domain databases
InterProi | View protein in InterPro IPR031638, Melanoregulin |
PANTHERi | PTHR34340, PTHR34340, 1 hit |
Pfami | View protein in Pfam PF15812, MREG, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MREG_HUMAN | |
Accessioni | Q8N565Primary (citable) accession number: Q8N565 Secondary accession number(s): Q53R89 Q9P1S1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 26, 2007 |
Last sequence update: | October 1, 2002 | |
Last modified: | February 10, 2021 | |
This is version 132 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families