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Protein

Receptor expression-enhancing protein 1

Gene

REEP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors (PubMed:20200447). May play a role in long-term axonal maintenance (PubMed:24478229).2 Publications

GO - Molecular functioni

  • microtubule binding Source: UniProtKB
  • olfactory receptor binding Source: HGNC

GO - Biological processi

  • endoplasmic reticulum tubular network organization Source: UniProtKB
  • protein insertion into membrane Source: HGNC
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000068615-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Receptor expression-enhancing protein 1
Alternative name(s):
Spastic paraplegia 31 protein1 Publication
Gene namesi
Name:REEP1
Synonyms:C2orf23, SPG311 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:25786. REEP1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1 – 21HelicalSequence analysisAdd BLAST21
Transmembranei35 – 55HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • cytoplasm Source: HGNC
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum tubular network Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • mitochondrial membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 31, autosomal dominant (SPG31)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:610250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06726519P → L in SPG31; impairs normal ER-targeting. 2 Publications1
Natural variantiVAR_07260919P → R in SPG31; impairs normal ER-targeting. 1 Publication1
Natural variantiVAR_02735120A → E in SPG31; loss of function mutation; shows severely altered localization to numerous punctate small structures throughout the cytoplasm; does not localize to the endoplasmic reticulum; impairs normal ER tageting. 4 PublicationsCorresponds to variant rs121918262dbSNPEnsembl.1
Natural variantiVAR_06726623S → F in SPG31; impairs normal ER-tageting. 2 Publications1
Natural variantiVAR_06726742W → R in SPG31; impairs normal ER-tageting. 2 Publications1
Natural variantiVAR_07261055T → K in SPG31; unknown pathological significance; does not impair normal ER-targeting. 2 Publications1
Natural variantiVAR_06726856D → N in SPG31; unknown pathological significance; does not impair normal ER-tageting. 2 Publications1
Natural variantiVAR_072611107L → P in SPG31. 1 Publication1
Neuronopathy, distal hereditary motor, 5B (HMN5B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN5B is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus.
See also OMIM:614751

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi65055.
MalaCardsiREEP1.
MIMi610250. phenotype.
614751. phenotype.
OpenTargetsiENSG00000068615.
Orphaneti101011. Autosomal dominant spastic paraplegia type 31.
139536. Distal hereditary motor neuropathy type 5.
PharmGKBiPA134906680.

Polymorphism and mutation databases

BioMutaiREEP1.
DMDMi74733929.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001018211 – 201Receptor expression-enhancing protein 1Add BLAST201

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei152PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H902.
PaxDbiQ9H902.
PeptideAtlasiQ9H902.
PRIDEiQ9H902.

PTM databases

iPTMnetiQ9H902.
PhosphoSitePlusiQ9H902.

Expressioni

Tissue specificityi

Expressed in circumvallate papillae and testis.1 Publication

Gene expression databases

BgeeiENSG00000068615.
CleanExiHS_REEP1.
ExpressionAtlasiQ9H902. baseline and differential.
GenevisibleiQ9H902. HS.

Organism-specific databases

HPAiHPA058061.

Interactioni

Subunit structurei

Interacts with SPAST and ATL1; it preferentially interacts with SPAST isoform 1 (PubMed:20200447). Interacts (via C-terminus) with microtubules (PubMed:20200447). Interacts with odorant receptor proteins (By similarity). Interacts with ZFYVE27 (PubMed:23969831).By similarity2 Publications

GO - Molecular functioni

  • microtubule binding Source: UniProtKB
  • olfactory receptor binding Source: HGNC

Protein-protein interaction databases

BioGridi122377. 11 interactors.
IntActiQ9H902. 1 interactor.
STRINGi9606.ENSP00000438346.

Structurei

3D structure databases

ProteinModelPortaliQ9H902.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi170 – 173Poly-Pro4

Sequence similaritiesi

Belongs to the DP1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1726. Eukaryota.
COG5052. LUCA.
GeneTreeiENSGT00550000074535.
HOGENOMiHOG000007472.
HOVERGENiHBG056861.
InParanoidiQ9H902.
KOiK17338.
OMAiDDCLIQA.
OrthoDBiEOG091G0X58.
PhylomeDBiQ9H902.
TreeFamiTF314177.

Family and domain databases

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

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H902-1) [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
MVSWIISRLV VLIFGTLYPA YYSYKAVKSK DIKEYVKWMM YWIIFALFTT
60 70 80 90 100
AETFTDIFLC WFPFYYELKI AFVAWLLSPY TKGSSLLYRK FVHPTLSSKE
110 120 130 140 150
KEIDDCLVQA KDRSYDALVH FGKRGLNVAA TAAVMAASKG QGALSERLRS
160 170 180 190 200
FSMQDLTTIR GDGAPAPSGP PPPGSGRASG KHGQPKMSRS ASESASSSGT

A
Length:201
Mass (Da):22,255
Last modified:March 1, 2001 - v1
Checksum:i98F120DE100276A9
GO
Isoform 2 (identifier: Q9H902-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEY → MDHLQAGG

Note: No experimental confirmation available.
Show »
Length:174
Mass (Da):18,937
Checksum:iA640F3EDC043D8C1
GO
Isoform 3 (identifier: Q9H902-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MVSWIISRLVV → MQKVLSNGQTEEVRSGSR

Note: No experimental confirmation available.
Show »
Length:208
Mass (Da):22,958
Checksum:i74EEC9189C8D5229
GO
Isoform 4 (identifier: Q9H902-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     62-201: FPFYYELKIA...SESASSSGTA → DRVPYRRDCG...STSSSATETT

Note: No experimental confirmation available.
Show »
Length:143
Mass (Da):16,036
Checksum:i13E3F4B75BFF1C96
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06726519P → L in SPG31; impairs normal ER-targeting. 2 Publications1
Natural variantiVAR_07260919P → R in SPG31; impairs normal ER-targeting. 1 Publication1
Natural variantiVAR_02735120A → E in SPG31; loss of function mutation; shows severely altered localization to numerous punctate small structures throughout the cytoplasm; does not localize to the endoplasmic reticulum; impairs normal ER tageting. 4 PublicationsCorresponds to variant rs121918262dbSNPEnsembl.1
Natural variantiVAR_06726623S → F in SPG31; impairs normal ER-tageting. 2 Publications1
Natural variantiVAR_06726742W → R in SPG31; impairs normal ER-tageting. 2 Publications1
Natural variantiVAR_07261055T → K in SPG31; unknown pathological significance; does not impair normal ER-targeting. 2 Publications1
Natural variantiVAR_06726856D → N in SPG31; unknown pathological significance; does not impair normal ER-tageting. 2 Publications1
Natural variantiVAR_072611107L → P in SPG31. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0425731 – 35MVSWI…DIKEY → MDHLQAGG in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_0432511 – 11MVSWIISRLVV → MQKVLSNGQTEEVRSGSR in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_04325262 – 201FPFYY…SSGTA → DRVPYRRDCGASACRTSPPS GETAPLLPRAPHHRGLGGPA ANTASLRCPGVLLRALAAQA PPRILRSRFRKKSTSSSATE TT in isoform 4. 1 PublicationAdd BLAST140

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY562239 mRNA. Translation: AAT70684.1.
AK023172 mRNA. Translation: BAB14444.1.
AK297201 mRNA. Translation: BAH12523.1.
AK297287 mRNA. Translation: BAH12538.1.
AK299334 mRNA. Translation: BAH13005.1.
CR457301 mRNA. Translation: CAG33582.1.
AC009408 Genomic DNA. Translation: AAX93132.1.
AC009309 Genomic DNA. No translation available.
CH471053 Genomic DNA. Translation: EAW99457.1.
CH471053 Genomic DNA. Translation: EAW99458.1.
BC064846 mRNA. Translation: AAH64846.1.
CCDSiCCDS1989.1. [Q9H902-1]
CCDS54372.1. [Q9H902-2]
CCDS54373.1. [Q9H902-4]
CCDS54374.1. [Q9H902-3]
RefSeqiNP_001158202.1. NM_001164730.1. [Q9H902-3]
NP_001158203.1. NM_001164731.1. [Q9H902-2]
NP_001158204.1. NM_001164732.1. [Q9H902-4]
NP_075063.1. NM_022912.2. [Q9H902-1]
UniGeneiHs.368884.

Genome annotation databases

EnsembliENST00000165698; ENSP00000165698; ENSG00000068615. [Q9H902-1]
ENST00000453231; ENSP00000392197; ENSG00000068615. [Q9H902-3]
ENST00000535845; ENSP00000437567; ENSG00000068615. [Q9H902-2]
ENST00000541910; ENSP00000442681; ENSG00000068615. [Q9H902-4]
GeneIDi65055.
KEGGihsa:65055.
UCSCiuc002srh.5. human. [Q9H902-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY562239 mRNA. Translation: AAT70684.1.
AK023172 mRNA. Translation: BAB14444.1.
AK297201 mRNA. Translation: BAH12523.1.
AK297287 mRNA. Translation: BAH12538.1.
AK299334 mRNA. Translation: BAH13005.1.
CR457301 mRNA. Translation: CAG33582.1.
AC009408 Genomic DNA. Translation: AAX93132.1.
AC009309 Genomic DNA. No translation available.
CH471053 Genomic DNA. Translation: EAW99457.1.
CH471053 Genomic DNA. Translation: EAW99458.1.
BC064846 mRNA. Translation: AAH64846.1.
CCDSiCCDS1989.1. [Q9H902-1]
CCDS54372.1. [Q9H902-2]
CCDS54373.1. [Q9H902-4]
CCDS54374.1. [Q9H902-3]
RefSeqiNP_001158202.1. NM_001164730.1. [Q9H902-3]
NP_001158203.1. NM_001164731.1. [Q9H902-2]
NP_001158204.1. NM_001164732.1. [Q9H902-4]
NP_075063.1. NM_022912.2. [Q9H902-1]
UniGeneiHs.368884.

3D structure databases

ProteinModelPortaliQ9H902.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122377. 11 interactors.
IntActiQ9H902. 1 interactor.
STRINGi9606.ENSP00000438346.

PTM databases

iPTMnetiQ9H902.
PhosphoSitePlusiQ9H902.

Polymorphism and mutation databases

BioMutaiREEP1.
DMDMi74733929.

Proteomic databases

MaxQBiQ9H902.
PaxDbiQ9H902.
PeptideAtlasiQ9H902.
PRIDEiQ9H902.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000165698; ENSP00000165698; ENSG00000068615. [Q9H902-1]
ENST00000453231; ENSP00000392197; ENSG00000068615. [Q9H902-3]
ENST00000535845; ENSP00000437567; ENSG00000068615. [Q9H902-2]
ENST00000541910; ENSP00000442681; ENSG00000068615. [Q9H902-4]
GeneIDi65055.
KEGGihsa:65055.
UCSCiuc002srh.5. human. [Q9H902-1]

Organism-specific databases

CTDi65055.
DisGeNETi65055.
GeneCardsiREEP1.
HGNCiHGNC:25786. REEP1.
HPAiHPA058061.
MalaCardsiREEP1.
MIMi609139. gene.
610250. phenotype.
614751. phenotype.
neXtProtiNX_Q9H902.
OpenTargetsiENSG00000068615.
Orphaneti101011. Autosomal dominant spastic paraplegia type 31.
139536. Distal hereditary motor neuropathy type 5.
PharmGKBiPA134906680.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1726. Eukaryota.
COG5052. LUCA.
GeneTreeiENSGT00550000074535.
HOGENOMiHOG000007472.
HOVERGENiHBG056861.
InParanoidiQ9H902.
KOiK17338.
OMAiDDCLIQA.
OrthoDBiEOG091G0X58.
PhylomeDBiQ9H902.
TreeFamiTF314177.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000068615-MONOMER.

Miscellaneous databases

ChiTaRSiREEP1. human.
GeneWikiiREEP1.
GenomeRNAii65055.
PROiQ9H902.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000068615.
CleanExiHS_REEP1.
ExpressionAtlasiQ9H902. baseline and differential.
GenevisibleiQ9H902. 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 nameiREEP1_HUMAN
AccessioniPrimary (citable) accession number: Q9H902
Secondary accession number(s): B7Z4D7
, B7Z4F2, B7Z5R9, D6W5M2, Q53TI0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 128 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 2
    Human chromosome 2: 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.