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UniProtKB - Q96HR9 (REEP6_HUMAN)

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Protein

Receptor expression-enhancing protein 6

Gene

REEP6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:30078. REEP6.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • apical part of cell Source: Ensembl
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • nucleus Source: UniProtKB
  • photoreceptor inner segment Source: UniProtKB
  • rod spherule Source: Ensembl
Complete GO annotation...

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 Publication1
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 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi92840.
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

BioGridi124983. 30 interactors.
IntActiQ96HR9. 32 interactors.
MINTiMINT-5000264.
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 Publication1
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 Publication1
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

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.

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: June 7, 2017
This is version 115 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

Documents

  1. Human chromosome 19
    Human chromosome 19: 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