REEP6
entrez
92840
canonical
uniprot
Q96HR9
canonical
ensembl
ENSG00000115255
resolver
ensp
ENSP00000233596
resolver
ensp
ENSP00000378861
resolver
genesymbol
REEP6
resolver
genesymbol_syn
C19orf32
resolver
genesymbol_syn
DP1L1
resolver
hgnc
HGNC:30078
resolver
uniprot
A0A1L5BXV2
resolver
uniprot
A0A1L5BXV3
resolver
uniprot
B2RE01
resolver
uniprot
D6W5Z0
resolver
uniprot
Q96LM0
resolver
uniprot_entry
A0A1L5BXV2_HUMAN
resolver
uniprot_entry
REEP6_HUMAN
resolver
uniprot_sec
A0A1L5BXV3
resolver
uniprot_sec
B2RE01
resolver
uniprot_sec
D6W5Z0
resolver
uniprot_sec
Q96LM0
resolver
amino_acid_sequence
MDGLRQRVEHFLEQRNLVTEVLGALEAKTGVEKRYLAAGAVTLLSLYLLFGYGASLLCNLIGFVYPAYASIKAIESPSKDDDTVWLTYWVVYALFGLAEFFSDLLLSWFPFYYVGKCAFLLFCMAPRPWNGALMLYQRVVRPLFLRHHGAVDRIMNDLSGRALDAAAGITRNVLQVLARSRAGITPVAVAGPSTPLEADLKPSQTPQPKDK
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 77 (RP77) [MIM:617304]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP77 inheritance is autosomal recessive. {ECO:0000269|PubMed:27889058, ECO:0000269|PubMed:28369466, ECO:0000269|PubMed:29120066}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity). {ECO:0000250|UniProtKB:Q9JM62, ECO:0000269|PubMed:27889058}.
uniprot
proteins
mass_dalton
23418
uniprot
proteins
protein_family
DP1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15550249
uniprot
proteins
pubmed
16720576
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24098485
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27889058
uniprot
proteins
pubmed
28369466
uniprot
proteins
pubmed
29120066
uniprot
proteins
sequence_length
211
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24098485, ECO:0000269|PubMed:27889058}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:Q9JM62}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 44..64; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 89..109; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins