UniProtKB - Q96HR9 (REEP6_HUMAN)
(max 400 entries)x
Your basket is currently empty. i
Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)
Protein
Receptor expression-enhancing protein 6
Gene
REEP6
Organism
Homo sapiens (Human)
Status
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
Reactomei | R-HSA-381753 Olfactory Signaling Pathway |
Names & Taxonomyi
Protein namesi | Recommended name: Receptor expression-enhancing protein 6Alternative name(s): Polyposis locus protein 1-like 1 |
Gene namesi | Name:REEP6 Synonyms:C19orf32, DP1L1 |
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
EuPathDBi | HostDB:ENSG00000115255.10 |
HGNCi | HGNC:30078 REEP6 |
MIMi | 609346 gene |
neXtProti | NX_Q96HR9 |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 44 – 64 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 89 – 109 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & 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:617304Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077931 | 128 | P → L in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1057519317Ensembl. | 1 | |
Natural variantiVAR_077932 | 135 | L → 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 pigmentosaOrganism-specific databases
DisGeNETi | 92840 |
MalaCardsi | REEP6 |
MIMi | 617304 phenotype |
OpenTargetsi | ENSG00000115255 |
PharmGKBi | PA134892881 |
Polymorphism and mutation databases
BioMutai | REEP6 |
DMDMi | 74762661 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000101818 | 1 – 211 | Receptor expression-enhancing protein 6Add BLAST | 211 |
Proteomic databases
EPDi | Q96HR9 |
MaxQBi | Q96HR9 |
PaxDbi | Q96HR9 |
PeptideAtlasi | Q96HR9 |
PRIDEi | Q96HR9 |
PTM databases
iPTMneti | Q96HR9 |
PhosphoSitePlusi | Q96HR9 |
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
Bgeei | ENSG00000115255 |
CleanExi | HS_REEP6 |
ExpressionAtlasi | Q96HR9 baseline and differential |
Genevisiblei | Q96HR9 HS |
Organism-specific databases
HPAi | HPA003895 HPA048015 |
Interactioni
Binary interactionsi
Protein-protein interaction databases
BioGridi | 12498342 interactors. |
IntActi | Q96HR9 36 interactors. |
MINTi | Q96HR9 |
STRINGi | 9606.ENSP00000233596 |
Family & Domainsi
Sequence similaritiesi
Belongs to the DP1 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1725 Eukaryota COG5052 LUCA |
GeneTreei | ENSGT00550000074535 |
HOGENOMi | HOG000172351 |
HOVERGENi | HBG000796 |
InParanoidi | Q96HR9 |
KOi | K17279 |
OMAi | PWNGAHM |
OrthoDBi | EOG091G0X58 |
PhylomeDBi | Q96HR9 |
TreeFami | TF314913 |
Family and domain databases
InterProi | View protein in InterPro IPR004345 TB2_DP1_HVA22 |
PANTHERi | PTHR12300 PTHR12300, 1 hit |
Pfami | View protein in Pfam PF03134 TB2_DP1_HVA22, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative 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.
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 42 | T → A in BAB71670 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077931 | 128 | P → L in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1057519317Ensembl. | 1 | |
Natural variantiVAR_077932 | 135 | L → 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_048927 | 150 | A → D. Corresponds to variant dbSNP:rs2271412Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_058885 | 174 – 200 | Missing in isoform 2. Add BLAST | 27 |
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 |
CCDSi | CCDS12070.1 [Q96HR9-2] |
RefSeqi | NP_001316485.1, NM_001329556.1 [Q96HR9-1] NP_612402.1, NM_138393.2 [Q96HR9-2] |
UniGenei | Hs.76277 |
Genome annotation databases
Ensembli | ENST00000233596; ENSP00000233596; ENSG00000115255 [Q96HR9-2] |
GeneIDi | 92840 |
KEGGi | hsa:92840 |
UCSCi | uc002ltc.4 human [Q96HR9-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | REEP6_HUMAN | |
Accessioni | Q96HR9Primary (citable) accession number: Q96HR9 Secondary accession number(s): A0A1L5BXV3 Q96LM0 | |
Entry historyi | Integrated 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 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. |