REEP1
entrez
65055
canonical
uniprot
Q9H902
canonical
ensembl
ENSG00000068615
resolver
ensp
ENSP00000165698
resolver
ensp
ENSP00000392197
resolver
ensp
ENSP00000437567
resolver
ensp
ENSP00000438346
resolver
ensp
ENSP00000442681
resolver
ensp
ENSP00000494305
resolver
ensp
ENSP00000495610
resolver
ensp
ENSP00000508496
resolver
ensp
ENSP00000509143
resolver
enst
ENST00000538924
resolver
enst
ENST00000643817
resolver
enst
ENST00000689156
resolver
enst
ENST00000691703
resolver
genesymbol
REEP1
resolver
genesymbol_syn
C2orf23
resolver
genesymbol_syn
SPG31
resolver
hgnc
HGNC:25786
resolver
uniprot
A0A1C7CYY3
resolver
uniprot
A0A2R8Y6K6
resolver
uniprot
A0A8I5KRE1
resolver
uniprot
A0A8I5QKJ2
resolver
uniprot
B7Z4D7
resolver
uniprot
B7Z4F2
resolver
uniprot
B7Z5R9
resolver
uniprot
D6W5M2
resolver
uniprot
Q53TI0
resolver
uniprot_entry
A0A1C7CYY3_HUMAN
resolver
uniprot_entry
A0A2R8Y6K6_HUMAN
resolver
uniprot_entry
A0A8I5KRE1_HUMAN
resolver
uniprot_entry
A0A8I5QKJ2_HUMAN
resolver
uniprot_entry
REEP1_HUMAN
resolver
uniprot_sec
B7Z4D7
resolver
uniprot_sec
B7Z4F2
resolver
uniprot_sec
B7Z5R9
resolver
uniprot_sec
D6W5M2
resolver
uniprot_sec
Q53TI0
resolver
amino_acid_sequence
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]: A 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. {ECO:0000269|PubMed:16826527, ECO:0000269|PubMed:18644145, ECO:0000269|PubMed:20718791, ECO:0000269|PubMed:21618648, ECO:0000269|PubMed:22703882, ECO:0000269|PubMed:24478229}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuronopathy, distal hereditary motor, autosomal dominant 12 (HMND12) [MIM:614751]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders 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. HMND12 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. {ECO:0000269|PubMed:22703882}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuronopathy, distal hereditary motor, autosomal recessive 6 (HMNR6) [MIM:620011]: A form of distal spinal muscular atrophy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. 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. HMNR6 is characterized by onset of distal muscle weakness in early infancy. Affected individuals often present at birth with distal joint contractures or foot deformities and show delayed motor development, often with inability to walk or frequent falls. Patients often show respiratory distress or diaphragmatic palsy. {ECO:0000269|PubMed:27066569, ECO:0000269|PubMed:31872057, ECO:0000269|PubMed:34193129}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:20200447, ECO:0000269|PubMed:24478229}.
uniprot
proteins
mass_dalton
22255
uniprot
proteins
protein_family
DP1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15550249
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16720576
uniprot
proteins
pubmed
16826527
uniprot
proteins
pubmed
18644145
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20200447
uniprot
proteins
pubmed
20718791
uniprot
proteins
pubmed
21618648
uniprot
proteins
pubmed
22703882
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23969831
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24478229
uniprot
proteins
pubmed
27066569
uniprot
proteins
pubmed
31872057
uniprot
proteins
pubmed
34193129
uniprot
proteins
sequence_length
201
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:16826527}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:20200447}. Note=Localizes to endoplasmic reticulum tubular network. {ECO:0000269|PubMed:20200447}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 35..55; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 57..77; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins