REEP6

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
Inferred from mutant phenotypeⁱ
- 27889058
regulation of intracellular transport Source: Ensembl

Complete GO annotation...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-381753. Olfactory Signaling Pathway.

Reactomeⁱ

R-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:30078. REEP6.

HGNCⁱ

HGNC:30078. REEP6.

Subcellular locationⁱ

Endoplasmic reticulum membrane
2 Publications
Manual assertion based on experiment inⁱ
- Ref.2
  "Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa."
  UKIRDC
  Arno G., Agrawal S.A., Eblimit A., Bellingham J., Xu M., Wang F., Chakarova C., Parfitt D.A., Lane A., Burgoyne T., Hull S., Carss K.J., Fiorentino A., Hayes M.J., Munro P.M., Nicols R., Pontikos N., Holder G.E.
  Chen R.
  Am. J. Hum. Genet. 99:1305-1315(2016) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN RP77, VARIANTS RP77 LEU-128 AND PRO-135, CHARACTERIZATION OF VARIANTS RP77 LEU-128 AND PRO-135.
- Ref.9
  "REEPs are membrane shaping adapter proteins that modulate specific G protein-coupled receptor trafficking by affecting ER cargo capacity."
  Bjork S., Hurt C.M., Ho V.K., Angelotti T.
  PLoS ONE 8:E76366-E76366(2013) [PubMed] [Europe PMC] [Abstract]
  Cited for: SUBCELLULAR LOCATION.
; Multi-pass membrane protein Sequence analysis

Topology

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transmembraneⁱ	44 – 64	HelicalSequence analysisAdd BLAST		21
Transmembraneⁱ	89 – 109	HelicalSequence analysisAdd BLAST		21

GO - Cellular componentⁱ

apical part of cell Source: Ensembl
endoplasmic reticulum
Source: UniProtKB
Inferred from direct assayⁱ
- 27889058
endoplasmic reticulum membrane Source: UniProtKB-SubCell
integral component of membrane Source: UniProtKB-KW
nucleus
Source: UniProtKB
Inferred from direct assayⁱ
- 21630459
photoreceptor inner segment
Source: UniProtKB
Inferred from direct assayⁱ
- 27889058
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.

Keywords - Diseaseⁱ

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET More...DisGeNETⁱ	92840.
MIMⁱ	617304. phenotype.
Open Targets More...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.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96HR9.
PaxDbⁱ	Q96HR9.
PeptideAtlas More...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

Human Protein Atlas More...HPAⁱ	HPA003895. HPA048015.

HPAⁱ

HPA003895.
HPA048015.

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
COQ8A	Q8NI60	10	EBI-750345,EBI-745535
FAM160A2	Q8N612	4	EBI-750345,EBI-742137
HMBOX1	Q6NT76	3	EBI-750345,EBI-2549423
HMBOX1	Q6NT76-2	3	EBI-750345,EBI-10212206
LITAF	Q99732	9	EBI-750345,EBI-725647
PTPN9	Q6IQ43	3	EBI-750345,EBI-10250413
SDCBP	O00560	5	EBI-750345,EBI-727004
SNX1	Q13596	6	EBI-750345,EBI-2822329
SNX15	Q9NRS6	6	EBI-750345,EBI-725924
SPG21	Q9NZD8	5	EBI-750345,EBI-742688
TNS2	Q63HR2	5	EBI-750345,EBI-949753
TXN2	Q99757	5	EBI-750345,EBI-2932492
ZFYVE21	Q9BQ24	5	EBI-750345,EBI-2849569

Show more details

Protein-protein interaction databases

BioGridⁱ	124983. 30 interactors.
IntActⁱ	Q96HR9. 32 interactors.
Molecular INTeraction database More...MINTⁱ	MINT-5000264.
STRINGⁱ	9606.ENSP00000233596.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q96HR9.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the DP1 family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG1725. Eukaryota. COG5052. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074535.
HOGENOMⁱ	HOG000172351.
HOVERGENⁱ	HBG000796.
InParanoidⁱ	Q96HR9.
KEGG Orthology (KO) More...KOⁱ	K17279.
OMAⁱ	PWNGAHM.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0X58.
PhylomeDBⁱ	Q96HR9.
TreeFamⁱ	TF314913.

Family and domain databases

InterProⁱ	View protein in InterPro IPR004345. TB2_DP1_HVA22.
PANTHERⁱ	PTHR12300. PTHR12300. 1 hit.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF03134. TB2_DP1_HVA22. 1 hit.

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

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

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

« 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 
VDRIMNDLSG RALDAAAGIT RNVKPSQTPQ PKDK

Show »

Length:184

Mass (Da):20,733

Checksum:ⁱ13BE0F61685211CA

GO

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	Length
Natural variantⁱVAR_077931	128	P → L in RP77; decreased protein levels; does not affect localization to endoplasmic reticulum. 1 Publication	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 Publication	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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS12070.1. [Q96HR9-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001316485.1. NM_001329556.1. NP_612402.1. NM_138393.2.
UniGeneⁱ	Hs.76277.

Genome annotation databases

Ensemblⁱ	ENST00000233596; ENSP00000233596; ENSG00000115255. [Q96HR9-2]
GeneIDⁱ	92840.
KEGGⁱ	hsa:92840.
UCSC genome browser More...UCSCⁱ	uc002ltc.4. human. [Q96HR9-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS12070.1. [Q96HR9-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001316485.1. NM_001329556.1. NP_612402.1. NM_138393.2.
UniGeneⁱ	Hs.76277.

3D structure databases

ProteinModelPortalⁱ	Q96HR9.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	124983. 30 interactors.
IntActⁱ	Q96HR9. 32 interactors.
Molecular INTeraction database More...MINTⁱ	MINT-5000264.
STRINGⁱ	9606.ENSP00000233596.

PTM databases

iPTMnetⁱ	Q96HR9.
PhosphoSitePlusⁱ	Q96HR9.

Polymorphism and mutation databases

BioMutaⁱ	REEP6.
DMDMⁱ	74762661.

Proteomic databases

EPDⁱ	Q96HR9.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96HR9.
PaxDbⁱ	Q96HR9.
PeptideAtlas More...PeptideAtlasⁱ	Q96HR9.
PRIDEⁱ	Q96HR9.

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	92840.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000233596; ENSP00000233596; ENSG00000115255. [Q96HR9-2]
GeneIDⁱ	92840.
KEGGⁱ	hsa:92840.
UCSC genome browser More...UCSCⁱ	uc002ltc.4. human. [Q96HR9-1]

Organism-specific databases

CTDⁱ	92840.
DisGeNET More...DisGeNETⁱ	92840.
GeneCardsⁱ	REEP6.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:30078. REEP6.
Human Protein Atlas More...HPAⁱ	HPA003895. HPA048015.
MIMⁱ	609346. gene. 617304. phenotype.
neXtProtⁱ	NX_Q96HR9.
Open Targets More...OpenTargetsⁱ	ENSG00000115255.
PharmGKBⁱ	PA134892881.
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1725. Eukaryota. COG5052. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074535.
HOGENOMⁱ	HOG000172351.
HOVERGENⁱ	HBG000796.
InParanoidⁱ	Q96HR9.
KEGG Orthology (KO) More...KOⁱ	K17279.
OMAⁱ	PWNGAHM.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0X58.
PhylomeDBⁱ	Q96HR9.
TreeFamⁱ	TF314913.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-381753. Olfactory Signaling Pathway.

Reactomeⁱ

R-HSA-381753. Olfactory Signaling Pathway.

Miscellaneous databases

GenomeRNAiⁱ	92840.
Protein Ontology More...PROⁱ	PR:Q96HR9.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000115255.
CleanExⁱ	HS_REEP6.
ExpressionAtlasⁱ	Q96HR9. baseline and differential.
Genevisibleⁱ	Q96HR9. HS.

Family and domain databases

InterProⁱ	View protein in InterPro IPR004345. TB2_DP1_HVA22.
PANTHERⁱ	PTHR12300. PTHR12300. 1 hit.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF03134. TB2_DP1_HVA22. 1 hit.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	REEP6_HUMAN
Accessionⁱ	Q96HR9Primary (citable) accession number: Q96HR9 Secondary accession number(s): A0A1L5BXV3 , B2RE01, D6W5Z0, Q96LM0
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 20, 2005
	Last sequence update:	April 12, 2017
	Last modified:	May 10, 2017
	This is version 114 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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.

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q96HR9 (REEP6_HUMAN)

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Receptor expression-enhancing protein 6

Select a section on the left to see content.

<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

<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

<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

Organism-specific databases

<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

Topology

<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 - Cellular componenti

<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

Organism-specific databases

Polymorphism and mutation databases

<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

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<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

Phylogenomic databases

Family and domain databases

<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 length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (2)ⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ