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Protein

Receptor expression-enhancing protein 6

Gene

REEP6

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

Functioni

May play a role in intracellular protein transport from the endoplasmic reticulum to the cell surface (By similarity). Required for correct function and survival of retinal photoreceptors (PubMed:27889058).By similarity1 Publication

GO - Biological processi

  • detection of light stimulus involved in visual perception Source: UniProtKB
  • regulation of intracellular transport Source: Ensembl

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Receptor expression-enhancing protein 6
Alternative name(s):
Polyposis locus protein 1-like 1
Gene namesi
Name:REEP6
Synonyms:C19orf32, DP1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000115255.10
HGNCiHGNC:30078 REEP6
MIMi609346 gene
neXtProtiNX_Q96HR9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei44 – 64HelicalSequence analysisAdd BLAST21
Transmembranei89 – 109HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 77 (RP77)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP77 inheritance is autosomal recessive.
See also OMIM:617304
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077931128P → L in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1057519317Ensembl.1
Natural variantiVAR_077932135L → P in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum; loss of rod photoreceptor function shown by a mouse knockin model of the mutation. 1 PublicationCorresponds to variant dbSNP:rs1057519316Ensembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi92840
MalaCardsiREEP6
MIMi617304 phenotype
OpenTargetsiENSG00000115255
PharmGKBiPA134892881

Polymorphism and mutation databases

BioMutaiREEP6
DMDMi74762661

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001018181 – 211Receptor expression-enhancing protein 6Add BLAST211

Proteomic databases

EPDiQ96HR9
MaxQBiQ96HR9
PaxDbiQ96HR9
PeptideAtlasiQ96HR9
PRIDEiQ96HR9

PTM databases

iPTMnetiQ96HR9
PhosphoSitePlusiQ96HR9

Expressioni

Tissue specificityi

Expressed in circumvallate papillae and testis (PubMed:16720576). Expressed in the retina. Isoform 1 is predominantly present in mature optic cups. Isoform 1 expression is confined to the cell body and inner segment of developing rod photoreceptor cells (PubMed:27889058).2 Publications

Gene expression databases

BgeeiENSG00000115255
CleanExiHS_REEP6
ExpressionAtlasiQ96HR9 baseline and differential
GenevisibleiQ96HR9 HS

Organism-specific databases

HPAiHPA003895
HPA048015

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi12498342 interactors.
IntActiQ96HR9 36 interactors.
MINTiQ96HR9
STRINGi9606.ENSP00000233596

Structurei

3D structure databases

ProteinModelPortaliQ96HR9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DP1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1725 Eukaryota
COG5052 LUCA
GeneTreeiENSGT00550000074535
HOGENOMiHOG000172351
HOVERGENiHBG000796
InParanoidiQ96HR9
KOiK17279
OMAiPWNGAHM
OrthoDBiEOG091G0X58
PhylomeDBiQ96HR9
TreeFamiTF314913

Family and domain databases

InterProiView protein in InterPro
IPR004345 TB2_DP1_HVA22
PANTHERiPTHR12300 PTHR12300, 1 hit
PfamiView protein in Pfam
PF03134 TB2_DP1_HVA22, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96HR9-1) [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
MDGLRQRVEH FLEQRNLVTE VLGALEAKTG VEKRYLAAGA VTLLSLYLLF
60 70 80 90 100
GYGASLLCNL IGFVYPAYAS IKAIESPSKD DDTVWLTYWV VYALFGLAEF
110 120 130 140 150
FSDLLLSWFP FYYVGKCAFL LFCMAPRPWN GALMLYQRVV RPLFLRHHGA
160 170 180 190 200
VDRIMNDLSG RALDAAAGIT RNVLQVLARS RAGITPVAVA GPSTPLEADL
210
KPSQTPQPKD K
Length:211
Mass (Da):23,418
Last modified:April 12, 2017 - v2
Checksum:iCB45B084E8A584C9
GO
Isoform 2 (identifier: Q96HR9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     174-200: Missing.

Show »
Length:184
Mass (Da):20,733
Checksum:i13BE0F61685211CA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti42T → A in BAB71670 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077931128P → L in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1057519317Ensembl.1
Natural variantiVAR_077932135L → P in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum; loss of rod photoreceptor function shown by a mouse knockin model of the mutation. 1 PublicationCorresponds to variant dbSNP:rs1057519316Ensembl.1
Natural variantiVAR_048927150A → D. Corresponds to variant dbSNP:rs2271412Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_058885174 – 200Missing in isoform 2. Add BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY562244 mRNA Translation: AAT70689.1
KX268612 mRNA Translation: APL98237.1
AK058112 mRNA Translation: BAB71670.1
AK315744 mRNA Translation: BAG38098.1
AC027307 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW69491.1
CH471139 Genomic DNA Translation: EAW69492.1
CH471139 Genomic DNA Translation: EAW69493.1
BC008201 mRNA Translation: AAH08201.1
CCDSiCCDS12070.1 [Q96HR9-2]
RefSeqiNP_001316485.1, NM_001329556.1 [Q96HR9-1]
NP_612402.1, NM_138393.2 [Q96HR9-2]
UniGeneiHs.76277

Genome annotation databases

EnsembliENST00000233596; ENSP00000233596; ENSG00000115255 [Q96HR9-2]
GeneIDi92840
KEGGihsa:92840
UCSCiuc002ltc.4 human [Q96HR9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiREEP6_HUMAN
AccessioniPrimary (citable) accession number: Q96HR9
Secondary accession number(s): A0A1L5BXV3
, B2RE01, D6W5Z0, Q96LM0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: April 12, 2017
Last modified: April 25, 2018
This is version 123 of the entry and version 2 of the sequence. See 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