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Protein

Receptor expression-enhancing protein 1

Gene

REEP1

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

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

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

EuPathDBiHostDB:ENSG00000068615.16
HGNCiHGNC:25786 REEP1
MIMi609139 gene
neXtProtiNX_Q9H902

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; Source: COMPARTMENTS

Topology

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 31, autosomal dominant (SPG31)6 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 PublicationCorresponds to variant dbSNP:rs1060503496Ensembl.1
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 dbSNP:rs121918262EnsemblClinVar.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 PublicationsCorresponds to variant dbSNP:rs1060503493Ensembl.1
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, Neuropathy

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
ProteomicsDBi81261
81262 [Q9H902-2]
81263 [Q9H902-3]
81264 [Q9H902-4]

PTM databases

iPTMnetiQ9H902
PhosphoSitePlusiQ9H902

Expressioni

Tissue specificityi

Expressed in circumvallate papillae and testis.1 Publication

Gene expression databases

BgeeiENSG00000068615 Expressed in 221 organ(s), highest expression level in frontal cortex
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

Protein-protein interaction databases

BioGridi122377, 11 interactors
CORUMiQ9H902
IntActiQ9H902, 7 interactors
STRINGi9606.ENSP00000438346

Structurei

3D structure databases

ProteinModelPortaliQ9H902
SMRiQ9H902
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
OrthoDBiEOG091G0X58
PhylomeDBiQ9H902
TreeFamiTF314177

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 (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EUF7E7EUF7_HUMAN
Receptor expression-enhancing prote...
REEP1
208Annotation score:
U3KPV7U3KPV7_HUMAN
Receptor expression-enhancing prote...
REEP1
147Annotation score:
A0A2R8Y5P1A0A2R8Y5P1_HUMAN
Receptor expression-enhancing prote...
REEP1
320Annotation score:
A0A2R8YD64A0A2R8YD64_HUMAN
Receptor expression-enhancing prote...
REEP1
287Annotation score:
A0A2R8Y6K6A0A2R8Y6K6_HUMAN
Receptor expression-enhancing prote...
REEP1
258Annotation score:
A0A1C7CYY3A0A1C7CYY3_HUMAN
Receptor expression-enhancing prote...
REEP1
284Annotation score:

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 PublicationCorresponds to variant dbSNP:rs1060503496Ensembl.1
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 dbSNP:rs121918262EnsemblClinVar.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 PublicationsCorresponds to variant dbSNP:rs1060503493Ensembl.1
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

Similar proteinsi

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
SMRiQ9H902
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122377, 11 interactors
CORUMiQ9H902
IntActiQ9H902, 7 interactors
STRINGi9606.ENSP00000438346

PTM databases

iPTMnetiQ9H902
PhosphoSitePlusiQ9H902

Polymorphism and mutation databases

BioMutaiREEP1
DMDMi74733929

Proteomic databases

MaxQBiQ9H902
PaxDbiQ9H902
PeptideAtlasiQ9H902
PRIDEiQ9H902
ProteomicsDBi81261
81262 [Q9H902-2]
81263 [Q9H902-3]
81264 [Q9H902-4]

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
EuPathDBiHostDB:ENSG00000068615.16
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
OrthoDBiEOG091G0X58
PhylomeDBiQ9H902
TreeFamiTF314177

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

Miscellaneous databases

ChiTaRSiREEP1 human
GeneWikiiREEP1
GenomeRNAii65055
PROiPR:Q9H902
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000068615 Expressed in 221 organ(s), highest expression level in frontal cortex
CleanExiHS_REEP1
ExpressionAtlasiQ9H902 baseline and differential
GenevisibleiQ9H902 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
ProtoNetiSearch...

Entry informationi

Entry nameiREEP1_HUMAN
AccessioniPrimary (citable) accession number: Q9H902
Secondary accession number(s): B7Z4D7
, B7Z4F2, B7Z5R9, D6W5M2, Q53TI0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: March 1, 2001
Last modified: September 12, 2018
This is version 136 of the entry and version 1 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 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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