| Type | Description |
|---|---|
| Definition | receptor accessory protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-17 10:09:00 | deletional variation of the REEP1 gene probably underlies the disease in this pedigree | 31055810 |
| 2019-08-10 11:11:00 | The REEP1 c.606 + 43G>T caused Spastic Paraplegia and primary progressive multiple sclerosis. | 29908077 |
| 2019-06-08 10:50:00 | REEP1 variants cause polyneuropathy in SPG31. | 30637453 |
| 2019-04-06 12:35:00 | Pathology of spastic paraplegia type 31 may contain dosage effect of REEP1 transcripts. | 29107646 |
| 2019-01-12 10:38:00 | Study identified a heterozygous nonstop variant in REEP1. Mutations in this gene have classically been associated with the upper motor neuron disorder hereditary spastic paraplegia (HSP). | 29124833 |
| Type | IDs |
|---|---|
| Synonymous | C2orf23, HMN5B, SPG31, Yip2a |
| Gene |
UniProtKB-ID:
REEP1_HUMAN
UniprotKB:
Q9H902
UniParc:
UPI0001914DEC,
UPI0000E07692,
UPI0000071ECE,
UPI0001914DBF
EMBL:
AC009408,
CR457301,
CH471053,
AY562239,
BC064846,
AC009309,
AK299334,
AK297287,
AK023172,
AK297201
Ensembl:
ENSG00000068615
KO:
hsa:65055
|
| Nucleutide sequences |
EMBL-CDS:
EAW99457.1,
BAH13005.1,
CAG33582.1,
AAH64846.1,
BAH12523.1,
BAH12538.1,
AAT70684.1,
AAX93132.1,
BAB14444.1,
EAW99458.1
Ensembl_TRS:
ENST00000453231,
ENST00000541910,
ENST00000535845,
ENST00000165698
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000392197,
ENSP00000165698,
ENSP00000442681,
ENSP00000437567
RefSeq:
NP_075063.1,
XP_005264561.1,
XP_016860215.1,
NP_001158204.1,
XP_016860216.1,
NP_001158203.1,
XP_016860214.1,
XP_011531346.1,
NP_001158202.1,
NP_001358208.1,
NP_001358209.1,
XP_011531347.1
|
| Others |
UniRef100:
UniRef100_Q9H902
UniRef90:
UniRef90_Q9H902
UniRef50:
UniRef50_Q9H902
UniGene:
Hs.368884
CCDS:
CCDS54372.1,
CCDS54374.1,
CCDS54373.1,
CCDS1989.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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