Aliases &
Descriptions
for REEP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| receptor accessory protein 11 2 | | chromosome 2 open reading frame 231 | | SPG311 2 5 | | OTTHUMP000002095582 | | FLJ131101 2 | | receptor expression-enhancing protein 12 | | C2orf232 3 | | C2ORF235 |
Export aliases for REEP1 gene to outside databasesPrevious GC identifers: GC02M086353 GC02M086441 |
Summaries
for REEP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for REEP1:
This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors.Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternativesplicing results in multiple transcript variants. (provided by RefSeq)
UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902Function: May enhance the cell surface expression of odorant receptors (By similarity)
Gene Wiki entry for REEP1 |
Genomic Views
for REEP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the REEP1 gene promoter:
Pax-2 C/EBPalpha AREB6 TBP CUTL1 GATA-3 Sox9 AP-4 LCR-F1 MyoD
Other transcription factors
Search SABiosciences Chromatin IP Primers for REEP1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p11.2 Ensembl cytogenetic band: 2p11.2 HGNC cytogenetic band: 2p11.2REEP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M086294: view genomic region
(about GC identifiers)
Start:
|
86,338,580 bp from pter |
End:
|
86,565,206 bp from pter |
Size:
|
226,627 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000002.11 NT_022184.15
|
Proteins
for REEP1 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902 (See
protein sequence)Recommended Name: Receptor expression-enhancing protein 1 Size: 201 amino acids; 22255 Da
Subunit: Interacts with odorant receptor proteins (By similarity)
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
Secondary accessions: Q53TI0Explore the universe of human proteins at neXtProt for REEP1: NX_Q9H902
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (4 alternative transcripts):
NP_001158202.1 NP_001158203.1 NP_001158204.1 NP_075063.1
ENSEMBL proteins: ENSP00000401140 ENSP00000400607 ENSP00000392197 ENSP00000165698
Human Recombinant Proteins
5 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
REEP1 for ontologies About GeneDecksing
Antibodies for REEP1:
Assays for REEP1: |
Protein
Domains/
Families
for REEP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
REEP1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H902ProtoNet protein and cluster: Q9H902 1 Blocks protein family: IPB004345 TB2/DP1 and HVA22 related proteins
UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902Similarity: Belongs to the DP1 family |
Gene Function
for REEP1 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902Function: May enhance the cell surface expression of odorant receptors (By similarity)
1 Gene Ontology (GO) molecular function term (GO ID links to tree view): About this table
REEP1 for ontologies About GeneDecksing
|
Pathways & Interactions
for REEP1 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for REEP1
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for REEP1
2 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
REEP1 for ontologies About GeneDecksing
|
Drugs & Compounds
for REEP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for REEP1
|
Transcripts
for REEP1 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for REEP1 gene (4 alternative transcripts): NM_001164730.1 NM_001164731.1 NM_001164732.1 NM_022912.2 Additional cDNA sequence: AB073662.1 AK022775.1 AK023172.1 AK294300.1 AK297201.1 AK297287.1 AK297359.1 AK297373.1 AK299334.1 AL080222.1 AY562239.1 BC064846.1 BC139746.1 CR457301.1 10 DOTS entries: DT.453240 DT.100761304 DT.121003896 DT.40118504 DT.40230806 DT.75117358 DT.95269058 DT.99984692 DT.119122 DT.121003923 24/178 AceView cDNA sequences (see all 178): BX483943 AI339013 AA972174 M85497 AW183885 BE219487 AI218629 AA889033 AI017730 AA255438 BU075637 AW206676 AI692726 BE220275 AA442816 AI804428 AI985000 AI073542 AI809905 AI018765 T33564 BP370701 BE674450 AA634441
 highest scoring ESTs for REEP1:AK023172 AL048956 AL080222 AL534288 AU131423 BC064846 CD358399 CD359757 CR457301 AA057767 Unigene Cluster for REEP1: Receptor accessory protein 1 Hs.368884 [show with all ESTs]Unigene Representative Sequence: NM_022912
GeneLoc Exon Structure
8 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000475475 ENST00000437769 ENST00000428491 ENST00000489855 ENST00000490915
ENST00000473407 ENST00000453231 ENST00000165698(uc002srh.3 uc010ytg.1 uc010yth.1 uc010yti.1)
|
Expression
for REEP1 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| REEP1 expression in normal and diseased human tissues
1 / 2 / 3 5 probe-sets matching REEP1 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 36096_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
1.00 |
1.00 |
AL080222 |
0.80 |
1.00 |
0.91 |
1 |
| 204364_s_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
BE535746 |
0.40 |
1.00 |
0.76 |
1 |
| 204365_s_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_022912 |
0.60 |
1.00 |
0.82 |
1 |
| 204364_s_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 204365_s_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
REEP1 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TCATAACTTT
SOURCE GeneReport for Unigene cluster: Hs.368884
SABiosciences Custom PCR Arrays for REEP1
|
Orthologs
for REEP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for REEP1 gene from 5/9 species (see all 9)
About this table Species with no ortholog for REEP1
ENSEMBL Gene Tree for REEP1 (if available) |
Paralogs
for REEP1 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for REEP1 gene
- REEP42 REEP32 REEP52 REEP22
REEP1 for paralogs About GeneDecksing
|
Genomic Variants
for REEP1 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 2 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for REEP1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for REEP1
1 CNV: 8380
1 Indel: 40343 |
Disorders & Mutations
for REEP1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
REEP1 for disorders About GeneDecksing
OMIM: 609139 disorders: 610250 UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902
Defects in REEP1 are the cause of spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]. Spasticparaplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity ofthe lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may includedifficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Insome forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness mayspread to other parts of the bodyHuman Gene Mutation Database (HGMD): REEP1
Human Genome Epidemiology (HuGE) Navigator: REEP1 (5 documents)
Export disorders and mutations for REEP1 gene to outside databases
|
Medical News
for REEP1 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for REEP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/27 PubMed articles for REEP1 gene, integrated from 7 sources (see all 27):
(articles sorted by number of sources associating them with REEP1)- RTP family members induce functional expression of mammalian odorant receptors. (PubMed id 15550249)1, 2, 3 Saito H....Matsunami H. (2004)
- Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. (PubMed id 16826527)1, 2, 7 Zuechner S.... Pericak-Vance M.A. (2006)
- Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PubMed id 16271481)1, 3 Clark A.J....Huebner A. (2005)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. (PubMed id 19781397)1, 7 Du J....Tang B.S. (2009 Sep 5)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (PubMed id 20718791)1 McCorquodale Iii D....ZA1chner S. (2010 Jul 2)
- Hereditary spastic paraplegia proteins REEP1, spastin , and atlastin-1 coordinate microtubule interactions with the tubular ER networ k. (PubMed id 20200447)1 Park S.H....Blackstone C. (2010)
|
External Searches for REEP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing REEP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing REEP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing REEP1 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/REEP1 |
|
| | |
About This Section
| Patent Information for REEP1 gene:
Search GeneIP for patents involving REEP1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for REEP1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| |  | Search Tocris compounds for REEP1 |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for REEP1 |
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