Property Summary

NCBI Gene PubMed Count 31
Grant Count 11
R01 Count 4
Funding $2,294,740.78
PubMed Score 29.54
PubTator Score 35.24

Knowledge Summary

Patent

No data available

Expression

Gene RIF (22)

PMID Text
26671083 This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients
26201691 we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.
24986827 Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.
24478229 Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.
24355597 Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
24051375 REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum.
23108492 A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome.
22703882 Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1
21618648 Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.
20718791 previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia
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AA Sequence

MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKI      1 - 70
AFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKG     71 - 140
QGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA             141 - 201
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Text Mined References (33)

PMID Year Title
26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
26201691 2015 Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
24986827 2015 A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
24478229 2014 Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
24355597 2014 REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24051375 2013 A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
23969831 2013 Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23108492 2013 ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
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