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Protein

Melanoregulin

Gene

MREG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in the incorporation of pigments into hair. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Melanoregulin
Alternative name(s):
Dilute suppressor protein homolog
Gene namesi
Name:MREG
Synonyms:DSU
ORF Names:HDCGA21P
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:25478. MREG.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55686.
OpenTargetsiENSG00000118242.
PharmGKBiPA162396174.

Polymorphism and mutation databases

BioMutaiMREG.
DMDMi74751016.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002921751 – 214MelanoregulinAdd BLAST214

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei213PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8N565.
PaxDbiQ8N565.
PeptideAtlasiQ8N565.
PRIDEiQ8N565.

PTM databases

iPTMnetiQ8N565.
PhosphoSitePlusiQ8N565.
SwissPalmiQ8N565.

Expressioni

Tissue specificityi

Expressed in photoreceptor cells (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000118242.
CleanExiHS_MREG.
ExpressionAtlasiQ8N565. baseline and differential.
GenevisibleiQ8N565. HS.

Interactioni

Subunit structurei

Interacts with PRPH2.By similarity

Protein-protein interaction databases

BioGridi120813. 10 interactors.
IntActiQ8N565. 4 interactors.
STRINGi9606.ENSP00000263268.

Structurei

3D structure databases

ProteinModelPortaliQ8N565.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi11 – 18Cys-rich8

Sequence similaritiesi

Belongs to the melanoregulin family.Curated

Phylogenomic databases

eggNOGiENOG410IHII. Eukaryota.
ENOG4111SQ5. LUCA.
GeneTreeiENSGT00390000008926.
HOGENOMiHOG000113650.
HOVERGENiHBG098181.
InParanoidiQ8N565.
OMAiRWKHILE.
OrthoDBiEOG091G0LZ4.
PhylomeDBiQ8N565.
TreeFamiTF334733.

Family and domain databases

InterProiIPR031638. Melanoregulin.
[Graphical view]
PfamiPF15812. MREG. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N565-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:214
Mass (Da):24,927
Last modified:October 1, 2002 - v1
Checksum:i48D9780706C27DF7
GO
Isoform 2 (identifier: Q8N565-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     208-214: YLPFPSP → LWGDLSCRLAHMQGVLH

Note: No experimental confirmation available.
Show »
Length:224
Mass (Da):26,044
Checksum:i19CD8574013C1C6C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti154N → S in BAA91453 (PubMed:14702039).Curated1
Sequence conflicti156F → L in AAF65179 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05392315G → R.2 PublicationsCorresponds to variant rs1864253dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_026387208 – 214YLPFPSP → LWGDLSCRLAHMQGVLH in isoform 2. 1 Publication7

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.
CCDSiCCDS46513.1. [Q8N565-1]
RefSeqiNP_060470.2. NM_018000.2. [Q8N565-1]
UniGeneiHs.620391.

Genome annotation databases

EnsembliENST00000263268; ENSP00000263268; ENSG00000118242. [Q8N565-1]
ENST00000620139; ENSP00000484331; ENSG00000118242. [Q8N565-1]
GeneIDi55686.
KEGGihsa:55686.
UCSCiuc002vfo.4. human. [Q8N565-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS46513.1. [Q8N565-1]
RefSeqiNP_060470.2. NM_018000.2. [Q8N565-1]
UniGeneiHs.620391.

3D structure databases

ProteinModelPortaliQ8N565.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120813. 10 interactors.
IntActiQ8N565. 4 interactors.
STRINGi9606.ENSP00000263268.

PTM databases

iPTMnetiQ8N565.
PhosphoSitePlusiQ8N565.
SwissPalmiQ8N565.

Polymorphism and mutation databases

BioMutaiMREG.
DMDMi74751016.

Proteomic databases

MaxQBiQ8N565.
PaxDbiQ8N565.
PeptideAtlasiQ8N565.
PRIDEiQ8N565.

Protocols and materials databases

DNASUi55686.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263268; ENSP00000263268; ENSG00000118242. [Q8N565-1]
ENST00000620139; ENSP00000484331; ENSG00000118242. [Q8N565-1]
GeneIDi55686.
KEGGihsa:55686.
UCSCiuc002vfo.4. human. [Q8N565-1]

Organism-specific databases

CTDi55686.
DisGeNETi55686.
GeneCardsiMREG.
HGNCiHGNC:25478. MREG.
MIMi609207. gene.
neXtProtiNX_Q8N565.
OpenTargetsiENSG00000118242.
PharmGKBiPA162396174.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHII. Eukaryota.
ENOG4111SQ5. LUCA.
GeneTreeiENSGT00390000008926.
HOGENOMiHOG000113650.
HOVERGENiHBG098181.
InParanoidiQ8N565.
OMAiRWKHILE.
OrthoDBiEOG091G0LZ4.
PhylomeDBiQ8N565.
TreeFamiTF334733.

Miscellaneous databases

GenomeRNAii55686.
PROiQ8N565.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118242.
CleanExiHS_MREG.
ExpressionAtlasiQ8N565. baseline and differential.
GenevisibleiQ8N565. HS.

Family and domain databases

InterProiIPR031638. Melanoregulin.
[Graphical view]
PfamiPF15812. MREG. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMREG_HUMAN
AccessioniPrimary (citable) accession number: Q8N565
Secondary accession number(s): Q53R89
, Q53TC1, Q5XKB6, Q9NWC9, Q9P1S1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.