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Entry version 139 (13 Feb 2019)
Sequence version 1 (01 Mar 2001)
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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

<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 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

<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 - Molecular functioni

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

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 1
Alternative name(s):
Spastic paraplegia 31 protein1 Publication
<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:REEP1
Synonyms:C2orf23, SPG311 Publication
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000068615.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25786 REEP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609139 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H902

<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>Transmembranei1 – 21HelicalSequence analysisAdd BLAST21
Transmembranei35 – 55HelicalSequence 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

Endoplasmic reticulum, Membrane, Mitochondrion

<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

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
<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_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

DisGeNET

More...
DisGeNETi
65055

MalaCards human disease database

More...
MalaCardsi
REEP1
MIMi610250 phenotype
614751 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000068615

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

More...
Orphaneti
101011 Autosomal dominant spastic paraplegia type 31
139536 Distal hereditary motor neuropathy type 5

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134906680

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
REEP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74733929

<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_00001018211 – 201Receptor expression-enhancing protein 1Add BLAST201

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei152PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H902

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

More...
PaxDbi
Q9H902

PeptideAtlas

More...
PeptideAtlasi
Q9H902

PRoteomics IDEntifications database

More...
PRIDEi
Q9H902

ProteomicsDB human proteome resource

More...
ProteomicsDBi
81261
81262 [Q9H902-2]
81263 [Q9H902-3]
81264 [Q9H902-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H902

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

More...
PhosphoSitePlusi
Q9H902

<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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000068615 Expressed in 221 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H902 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H902 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA058061

<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 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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122377, 11 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9H902

Protein interaction database and analysis system

More...
IntActi
Q9H902, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000438346

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9H902

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H902

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi170 – 173Poly-Pro4

<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
KOG1726 Eukaryota
COG5052 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159532

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007472

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG056861

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H902

KEGG Orthology (KO)

More...
KOi
K17338

Database of Orthologous Groups

More...
OrthoDBi
1473891at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H902

TreeFam database of animal gene trees

More...
TreeFami
TF314177

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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 4 <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 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
<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: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

<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 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:

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>
U3KPV7U3KPV7_HUMAN
Receptor expression-enhancing prote...
REEP1
147Annotation 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>
A0A2R8Y6K6A0A2R8Y6K6_HUMAN
Receptor expression-enhancing prote...
REEP1
258Annotation 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>
A0A2R8Y5P1A0A2R8Y5P1_HUMAN
Receptor expression-enhancing prote...
REEP1
320Annotation 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>
A0A2R8YD64A0A2R8YD64_HUMAN
Receptor expression-enhancing prote...
REEP1
287Annotation 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>
A0A1C7CYY3A0A1C7CYY3_HUMAN
Receptor expression-enhancing prote...
REEP1
284Annotation score:

Annotation score:1 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>

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
<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_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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS1989.1 [Q9H902-1]
CCDS54372.1 [Q9H902-2]
CCDS54373.1 [Q9H902-4]
CCDS54374.1 [Q9H902-3]

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.368884

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000165698; ENSP00000165698; ENSG00000068615 [Q9H902-1]
ENST00000453231; ENSP00000392197; ENSG00000068615 [Q9H902-3]
ENST00000535845; ENSP00000437567; ENSG00000068615 [Q9H902-2]
ENST00000541910; ENSP00000442681; ENSG00000068615 [Q9H902-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
65055

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:65055

UCSC genome browser

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UCSCi
uc002srh.5 human [Q9H902-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
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

Comparative Toxicogenomics Database

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CTDi
65055
DisGeNETi65055
EuPathDBiHostDB:ENSG00000068615.16

GeneCards: human genes, protein and diseases

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GeneCardsi
REEP1
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1726 Eukaryota
COG5052 LUCA
GeneTreeiENSGT00940000159532
HOGENOMiHOG000007472
HOVERGENiHBG056861
InParanoidiQ9H902
KOiK17338
OrthoDBi1473891at2759
PhylomeDBiQ9H902
TreeFamiTF314177

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
REEP1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
REEP1

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

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GenomeRNAii
65055

Protein Ontology

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PROi
PR:Q9H902

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiREEP1_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: Q9H902
Secondary accession number(s): B7Z4D7
, B7Z4F2, B7Z5R9, D6W5M2, Q53TI0
<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: March 1, 2001
Last modified: February 13, 2019
This is version 139 of the entry and version 1 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 chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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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