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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. May play a role in retinal development (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115255-MONOMER.

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

HGNCiHGNC:30078. REEP6.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi92840.
OpenTargetsiENSG00000115255.
PharmGKBiPA134892881.

Polymorphism and mutation databases

BioMutaiREEP6.
DMDMi74762661.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001018181 – 184Receptor expression-enhancing protein 6Add BLAST184

Proteomic databases

EPDiQ96HR9.
MaxQBiQ96HR9.
PaxDbiQ96HR9.
PeptideAtlasiQ96HR9.
PRIDEiQ96HR9.

PTM databases

iPTMnetiQ96HR9.
PhosphoSitePlusiQ96HR9.

Expressioni

Tissue specificityi

Expressed in circumvallate papillae and testis.1 Publication

Gene expression databases

BgeeiENSG00000115255.
CleanExiHS_REEP6.
ExpressionAtlasiQ96HR9. baseline and differential.
GenevisibleiQ96HR9. HS.

Organism-specific databases

HPAiHPA003895.
HPA048015.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ADCK3Q8NI607EBI-750345,EBI-745535
FAM160A2Q8N6124EBI-750345,EBI-742137
HMBOX1Q6NT763EBI-750345,EBI-2549423
HMBOX1Q6NT76-23EBI-750345,EBI-10212206
LITAFQ997326EBI-750345,EBI-725647
PTPN9Q6IQ433EBI-750345,EBI-10250413
SDCBPO005605EBI-750345,EBI-727004
SNX1Q135966EBI-750345,EBI-2822329
SNX15Q9NRS66EBI-750345,EBI-725924
SPG21Q9NZD85EBI-750345,EBI-742688
TNS2Q63HR25EBI-750345,EBI-949753
TXN2Q997575EBI-750345,EBI-2932492
ZFYVE21Q9BQ245EBI-750345,EBI-2849569

Protein-protein interaction databases

BioGridi124983. 30 interactors.
IntActiQ96HR9. 31 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

InterProiIPR004345. TB2_DP1_HVA22.
[Graphical view]
PANTHERiPTHR12300. PTHR12300. 1 hit.
PfamiPF03134. TB2_DP1_HVA22. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96HR9-1 [UniParc]FASTAAdd to basket

« 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
Length:184
Mass (Da):20,733
Last modified:December 1, 2001 - v1
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_048927150A → D.Corresponds to variant rs2271412dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY562244 mRNA. Translation: AAT70689.1.
AK058112 mRNA. Translation: BAB71670.1.
AK315744 mRNA. Translation: BAG38098.1.
CH471139 Genomic DNA. Translation: EAW69492.1.
CH471139 Genomic DNA. Translation: EAW69493.1.
BC008201 mRNA. Translation: AAH08201.1.
CCDSiCCDS12070.1.
RefSeqiNP_001316485.1. NM_001329556.1.
NP_612402.1. NM_138393.2.
UniGeneiHs.76277.

Genome annotation databases

EnsembliENST00000233596; ENSP00000233596; ENSG00000115255.
GeneIDi92840.
KEGGihsa:92840.
UCSCiuc002ltc.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY562244 mRNA. Translation: AAT70689.1.
AK058112 mRNA. Translation: BAB71670.1.
AK315744 mRNA. Translation: BAG38098.1.
CH471139 Genomic DNA. Translation: EAW69492.1.
CH471139 Genomic DNA. Translation: EAW69493.1.
BC008201 mRNA. Translation: AAH08201.1.
CCDSiCCDS12070.1.
RefSeqiNP_001316485.1. NM_001329556.1.
NP_612402.1. NM_138393.2.
UniGeneiHs.76277.

3D structure databases

ProteinModelPortaliQ96HR9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124983. 30 interactors.
IntActiQ96HR9. 31 interactors.
MINTiMINT-5000264.
STRINGi9606.ENSP00000233596.

PTM databases

iPTMnetiQ96HR9.
PhosphoSitePlusiQ96HR9.

Polymorphism and mutation databases

BioMutaiREEP6.
DMDMi74762661.

Proteomic databases

EPDiQ96HR9.
MaxQBiQ96HR9.
PaxDbiQ96HR9.
PeptideAtlasiQ96HR9.
PRIDEiQ96HR9.

Protocols and materials databases

DNASUi92840.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000233596; ENSP00000233596; ENSG00000115255.
GeneIDi92840.
KEGGihsa:92840.
UCSCiuc002ltc.4. human.

Organism-specific databases

CTDi92840.
DisGeNETi92840.
GeneCardsiREEP6.
HGNCiHGNC:30078. REEP6.
HPAiHPA003895.
HPA048015.
MIMi609346. gene.
neXtProtiNX_Q96HR9.
OpenTargetsiENSG00000115255.
PharmGKBiPA134892881.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115255-MONOMER.

Miscellaneous databases

GenomeRNAii92840.
PROiQ96HR9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115255.
CleanExiHS_REEP6.
ExpressionAtlasiQ96HR9. baseline and differential.
GenevisibleiQ96HR9. HS.

Family and domain databases

InterProiIPR004345. TB2_DP1_HVA22.
[Graphical view]
PANTHERiPTHR12300. PTHR12300. 1 hit.
PfamiPF03134. TB2_DP1_HVA22. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiREEP6_HUMAN
AccessioniPrimary (citable) accession number: Q96HR9
Secondary accession number(s): B2RE01, D6W5Z0, Q96LM0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 110 of the entry and version 1 of the sequence. [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

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.