REEP1

Protein identityUniProt · HPA

UniProt accession

Q9H902

Gene

REEP1

Ensembl

ENSG00000068615

Chromosome

2

Canonical length

201 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

201 residues, UniProt reviewed canonical sequence.

>Q9H902|REEP1
     1  MVSWIISRLV VLIFGTLYPA YYSYKAVKSK DIKEYVKWMM YWIIFALFTT AETFTDIFLC
    61  WFPFYYELKI AFVAWLLSPY TKGSSLLYRK FVHPTLSSKE KEIDDCLVQA KDRSYDALVH
   121  FGKRGLNVAA TAAVMAASKG QGALSERLRS FSMQDLTTIR GDGAPAPSGP PPPGSGRASG
   181  KHGQPKMSRS ASESASSSGT A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against REEP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.51

Highest tissue expression

42 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about REEP1.

Disease | AllUniProt

Conditions REEP1 is implicated in, by any mechanism.

• Spastic paraplegia 31, autosomal dominant (SPG31) MIM:610250
• Neuronopathy, distal hereditary motor, autosomal dominant 12 (HMND12) MIM:614751
• Neuronopathy, distal hereditary motor, autosomal recessive 6 (HMNR6) MIM:620011

Disease | GeneticClinVar

90 pathogenic / likely-pathogenic of 461 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary spastic paraplegia 31
• Hereditary spastic paraplegia
• Neuronopathy, distal hereditary motor, type 5B
• Inborn genetic diseases
• Spinal muscular atrophy, distal, autosomal recessive, 6

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.23

gnomAD pLI

0.99

gnomAD missense Z

1.35

DepMap mean gene effect

-0.2

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endoplasmic reticulum tubular network organization
• protein insertion into membrane

Molecular functions

• microtubule binding
• olfactory receptor binding

Cellular components

• cytoplasm
• cytoplasmic microtubule
• endoplasmic reticulum
• endoplasmic reticulum membrane
• endoplasmic reticulum tubular network
• membrane
• mitochondrial membrane

Protein domainsUniProt · Pfam · InterPro

• TB2/DP1/HVA22
• TB2/DP1, HVA22 family

KeywordsUniProt

• Endoplasmic reticulum
• Hereditary spastic paraplegia
• Membrane
• Mitochondrion
• Neurodegeneration
• Neuropathy
• Phosphoprotein
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of REEP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATL1
• SPAST
• ZFYVE27
• YWHAE