Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 137 (16 Oct 2019)
Sequence version 2 (12 Apr 2017)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Receptor expression-enhancing protein 6

Gene

REEP6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-381753 Olfactory Signaling Pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Receptor expression-enhancing protein 6
Alternative name(s):
Polyposis locus protein 1-like 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:REEP6
Synonyms:C19orf32, DP1L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30078 REEP6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609346 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96HR9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei44 – 64HelicalSequence analysisAdd BLAST21
Transmembranei89 – 109HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 77 (RP77)3 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08139675E → K in RP77. 1 PublicationCorresponds to variant dbSNP:rs144942685Ensembl.1
Natural variantiVAR_08139789 – 211Missing in RP77; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761786834Add BLAST123
Natural variantiVAR_077931128P → L in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1057519317EnsemblClinVar.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:rs1057519316EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
92840

MalaCards human disease database

More...
MalaCardsi
REEP6
MIMi617304 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115255

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134892881

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96HR9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
REEP6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74762661

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001018181 – 211Receptor expression-enhancing protein 6Add BLAST211

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96HR9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96HR9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96HR9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96HR9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96HR9

PeptideAtlas

More...
PeptideAtlasi
Q96HR9

PRoteomics IDEntifications database

More...
PRIDEi
Q96HR9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
76780

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96HR9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96HR9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96HR9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115255 Expressed in 120 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96HR9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96HR9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003895
HPA048015

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with STX3 (By similarity).

Interacts with clathrin (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124983, 49 interactors

Protein interaction database and analysis system

More...
IntActi
Q96HR9, 56 interactors

Molecular INTeraction database

More...
MINTi
Q96HR9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DP1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1725 Eukaryota
COG5052 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161493

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000172351

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96HR9

KEGG Orthology (KO)

More...
KOi
K17279

Identification of Orthologs from Complete Genome Data

More...
OMAi
TWNGSEI

Database of Orthologous Groups

More...
OrthoDBi
1473891at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96HR9

TreeFam database of animal gene trees

More...
TreeFami
TF314913

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004345 TB2_DP1_HVA22

The PANTHER Classification System

More...
PANTHERi
PTHR12300 PTHR12300, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03134 TB2_DP1_HVA22, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96HR9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MXN1A8MXN1_HUMAN
Receptor expression-enhancing prote...
REEP6
139Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti42T → A in BAB71670 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08139675E → K in RP77. 1 PublicationCorresponds to variant dbSNP:rs144942685Ensembl.1
Natural variantiVAR_08139789 – 211Missing in RP77; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761786834Add BLAST123
Natural variantiVAR_077931128P → L in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1057519317EnsemblClinVar.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:rs1057519316EnsemblClinVar.1
Natural variantiVAR_048927150A → D. Corresponds to variant dbSNP:rs2271412Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_058885174 – 200Missing in isoform 2. Add BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12070.1 [Q96HR9-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001316485.1, NM_001329556.1 [Q96HR9-1]
NP_612402.1, NM_138393.2 [Q96HR9-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000233596; ENSP00000233596; ENSG00000115255 [Q96HR9-2]
ENST00000395479; ENSP00000378861; ENSG00000115255 [Q96HR9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
92840

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:92840

UCSC genome browser

More...
UCSCi
uc002ltc.4 human [Q96HR9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi124983, 49 interactors
IntActiQ96HR9, 56 interactors
MINTiQ96HR9

PTM databases

iPTMnetiQ96HR9
PhosphoSitePlusiQ96HR9
SwissPalmiQ96HR9

Polymorphism and mutation databases

BioMutaiREEP6
DMDMi74762661

Proteomic databases

EPDiQ96HR9
jPOSTiQ96HR9
MassIVEiQ96HR9
MaxQBiQ96HR9
PaxDbiQ96HR9
PeptideAtlasiQ96HR9
PRIDEiQ96HR9
ProteomicsDBi76780

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
92840

Genome annotation databases

EnsembliENST00000233596; ENSP00000233596; ENSG00000115255 [Q96HR9-2]
ENST00000395479; ENSP00000378861; ENSG00000115255 [Q96HR9-1]
GeneIDi92840
KEGGihsa:92840
UCSCiuc002ltc.4 human [Q96HR9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
92840
DisGeNETi92840

GeneCards: human genes, protein and diseases

More...
GeneCardsi
REEP6
HGNCiHGNC:30078 REEP6
HPAiHPA003895
HPA048015
MalaCardsiREEP6
MIMi609346 gene
617304 phenotype
neXtProtiNX_Q96HR9
OpenTargetsiENSG00000115255
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA134892881

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1725 Eukaryota
COG5052 LUCA
GeneTreeiENSGT00940000161493
HOGENOMiHOG000172351
InParanoidiQ96HR9
KOiK17279
OMAiTWNGSEI
OrthoDBi1473891at2759
PhylomeDBiQ96HR9
TreeFamiTF314913

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
92840
PharosiQ96HR9

Protein Ontology

More...
PROi
PR:Q96HR9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115255 Expressed in 120 organ(s), highest expression level in right testis
ExpressionAtlasiQ96HR9 baseline and differential
GenevisibleiQ96HR9 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiREEP6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96HR9
Secondary accession number(s): A0A1L5BXV3
, B2RE01, D6W5Z0, Q96LM0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: April 12, 2017
Last modified: October 16, 2019
This is version 137 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again