IMPG1
entrez
3617
canonical
uniprot
Q17R60
canonical
ensembl
ENSG00000112706
resolver
ensp
ENSP00000358966
resolver
ensp
ENSP00000481913
resolver
enst
ENST00000611179
resolver
genesymbol
IMPG1
resolver
genesymbol_syn
IPM150
resolver
genesymbol_syn
SPACR
resolver
hgnc
HGNC:6055
resolver
uniprot
A0A087WYL3
resolver
uniprot
A6NNZ6
resolver
uniprot
O43686
resolver
uniprot
O95094
resolver
uniprot
Q68D53
resolver
uniprot
Q9BWZ1
resolver
uniprot_entry
A0A087WYL3_HUMAN
resolver
uniprot_entry
IMPG1_HUMAN
resolver
uniprot_sec
A6NNZ6
resolver
uniprot_sec
O43686
resolver
uniprot_sec
O95094
resolver
uniprot_sec
Q68D53
resolver
uniprot_sec
Q9BWZ1
resolver
amino_acid_sequence
MYLETRRAIFVFWIFLQVQGTKDISINIYHSETKDIDNPPRNETTESTEKMYKMSTMRRIFDLAKHRTKRSAFFPTGVKVCPQESMKQILDSLQAYYRLRVCQEAVWEAYRIFLDRIPDTGEYQDWVSICQQETFCLFDIGKNFSNSQEHLDLLQQRIKQRSFPDRKDEISAEKTLGEPGETIVISTDVANVSLGPFPLTPDDTLLNEILDNTLNDTKMPTTERETEFAVLEEQRVELSVSLVNQKFKAELADSQSPYYQELAGKSQLQMQKIFKKLPGFKKIHVLGFRPKKEKDGSSSTEMQLTAIFKRHSAEAKSPASDLLSFDSNKIESEEVYHGTMEEDKQPEIYLTATDLKRLISKALEEEQSLDVGTIQFTDEIAGSLPAFGPDTQSELPTSFAVITEDATLSPELPPVEPQLETVDGAEHGLPDTSWSPPAMASTSLSEAPPFFMASSIFSLTDQGTTDTMATDQTMLVPGLTIPTSDYSAISQLALGISHPPASSDDSRSSAGGEDMVRHLDEMDLSDTPAPSEVPELSEYVSVPDHFLEDTTPVSALQYITTSSMTIAPKGRELVVFFSLRVANMAFSNDLFNKSSLEYRALEQQFTQLLVPYLRSNLTGFKQLEILNFRNGSVIVNSKMKFAKSVPYNLTKAVHGVLEDFRSAAAQQLHLEIDSYSLNIEPADQADPCKFLACGEFAQCVKNERTEEAECRCKPGYDSQGSLDGLEPGLCGPGTKECEVLQGKGAPCRLPDHSENQAYKTSVKKFQNQQNNKVISKRNSELLTVEYEEFNHQDWEGN
uniprot
proteins
disease_involvement
DISEASE: Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151]: A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity. {ECO:0000269|PubMed:23993198, ECO:0000269|PubMed:25085631, ECO:0000269|PubMed:30688845}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 91 (RP91) [MIM:153870]: 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. RP91 is an autosomal dominant form with bone-spicule pigmentation, attenuation of retinal vessels, and optic disk pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy. {ECO:0000269|PubMed:14691150, ECO:0000269|PubMed:32817297}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Chondroitin sulfate-, heparin- and hyaluronan-binding protein (By similarity). May serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix (PubMed:9813076). {ECO:0000250|UniProtKB:Q8JIR8, ECO:0000269|PubMed:9813076}.
uniprot
proteins
mass_dalton
89387
uniprot
proteins
post_translational_modification
PTM: The N-terminus is blocked. {ECO:0000269|PubMed:9719680}.; PTM: Highly glycosylated (N- and O-linked carbohydrates and sialic acid). {ECO:0000269|PubMed:9719680}.
uniprot
proteins
pubmed
10601738
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14691150
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23993198
uniprot
proteins
pubmed
25085631
uniprot
proteins
pubmed
28644393
uniprot
proteins
pubmed
29777959
uniprot
proteins
pubmed
30688845
uniprot
proteins
pubmed
32817297
uniprot
proteins
pubmed
9691169
uniprot
proteins
pubmed
9719680
uniprot
proteins
pubmed
9813076
uniprot
proteins
sequence_length
797
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:29777959}. Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix {ECO:0000269|PubMed:29777959, ECO:0000269|PubMed:9719680, ECO:0000269|PubMed:9813076}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q8R1W8}.
uniprot
proteins