ROM1
entrez
6094
canonical
uniprot
Q03395
canonical
ensembl
ENSG00000149489
resolver
ensp
ENSP00000278833
resolver
enst
ENST00000278833
resolver
genesymbol
ROM1
resolver
genesymbol_syn
TSPAN23
resolver
hgnc
HGNC:10254
resolver
uniprot
B2R978
resolver
uniprot_entry
ROM1_HUMAN
resolver
uniprot_sec
B2R978
resolver
amino_acid_sequence
MAPVLPLVLPLQPRIRLAQGLWLLSWLLALAGGVILLCSGHLLVQLRHLGTFLAPSCQFPVLPQAALAAGAVALGTGLVGVGASRASLNAALYPPWRGVLGPLLVAGTAGGGGLLVVGLGLALALPGSLDEALEEGLVTALAHYKDTEVPGHCQAKRLVDELQLRYHCCGRHGYKDWFGVQWVSSRYLDPGDRDVADRIQSNVEGLYLTDGVPFSCCNPHSPRPCLQNRLSDSYAHPLFDPRQPNQNLWAQGCHEVLLEHLQDLAGTLGSMLAVTFLLQALVLLGLRYLQTALEGLGGVIDAGGETQGYLFPSGLKDMLKTAWLQGGVACRPAPEEAPPGEAPPKEDLSEA
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 7 (RP7) [MIM:608133]: 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. {ECO:0000269|PubMed:8202715, ECO:0000269|PubMed:9331261}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. A digenic form of retinitis pigmentosa 7 results from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene has been reported (PubMed:8202715). {ECO:0000269|PubMed:8202715}.
uniprot
proteins
function
FUNCTION: Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity). {ECO:0000250|UniProtKB:P32958, ECO:0000250|UniProtKB:P52205}.
uniprot
proteins
mass_dalton
37205
uniprot
proteins
protein_family
PRPH2/ROM1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1610568
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
20335603
uniprot
proteins
pubmed
7904211
uniprot
proteins
pubmed
8202715
uniprot
proteins
pubmed
8504299
uniprot
proteins
pubmed
8595413
uniprot
proteins
pubmed
9331261
uniprot
proteins
sequence_length
351
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor inner segment membrane {ECO:0000250|UniProtKB:P32958, ECO:0000305|PubMed:1610568}; Multi-pass membrane protein {ECO:0000255}. Photoreceptor outer segment membrane {ECO:0000269|PubMed:1610568}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..44; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 65..84; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 103..125; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 264..286; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins