CD133
entrez
8842
canonical
uniprot
O43490
canonical
ensembl
ENSG00000007062
resolver
ensp
ENSP00000415481
resolver
ensp
ENSP00000426090
resolver
ensp
ENSP00000426809
resolver
ensp
ENSP00000427346
resolver
ensp
ENSP00000438045
resolver
ensp
ENSP00000443620
resolver
ensp
ENSP00000501741
resolver
ensp
ENSP00000502545
resolver
ensp
ENSP00000558928
resolver
ensp
ENSP00000558931
resolver
ensp
ENSP00000558932
resolver
ensp
ENSP00000558935
resolver
ensp
ENSP00000558936
resolver
ensp
ENSP00000558938
resolver
ensp
ENSP00000558939
resolver
ensp
ENSP00000608967
resolver
ensp
ENSP00000608968
resolver
ensp
ENSP00000641469
resolver
ensp
ENSP00000686975
resolver
ensp
ENSP00000733829
resolver
genesymbol
CD133
resolver
genesymbol
PROM1
resolver
genesymbol_syn
PROML1
resolver
hgnc
HGNC:9454
resolver
uniprot
A0A0A0N0M1
resolver
uniprot
Q6SV49
resolver
uniprot
Q6SV50
resolver
uniprot
Q6SV51
resolver
uniprot
Q6SV52
resolver
uniprot
Q6SV53
resolver
uniprot
Q96EN6
resolver
uniprot_entry
A0A0A0N0M1_HUMAN
resolver
uniprot_entry
PROM1_HUMAN
resolver
uniprot_sec
Q6SV49
resolver
uniprot_sec
Q6SV50
resolver
uniprot_sec
Q6SV51
resolver
uniprot_sec
Q6SV52
resolver
uniprot_sec
Q6SV53
resolver
uniprot_sec
Q96EN6
resolver
amino_acid_sequence
MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNMENGNNGYHKDHVYGIHNPVMTSPSQH
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 41 (RP41) [MIM:612095]: 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:10587575, ECO:0000269|PubMed:17605048}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cone-rod dystrophy 12 (CORD12) [MIM:612657]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:18654668, ECO:0000269|PubMed:35947379}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Stargardt disease 4 (STGD4) [MIM:603786]: An autosomal dominant form of Stargardt disease, a common hereditary macular degeneration characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269|PubMed:18654668}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Macular dystrophy, retinal, 2 (MCDR2) [MIM:608051]: An autosomal dominant retinal disease characterized by dyschromatopsia, gradual progressive loss of central visual acuity, and bilateral annular atrophy of retinal pigment epithelium at the macula. {ECO:0000269|PubMed:18654668}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439). {ECO:0000269|PubMed:20818439, ECO:0000269|PubMed:24556617}.
uniprot
proteins
mass_dalton
97202
uniprot
proteins
mutagenesis
MUTAGEN 225; /note="K->Q: Loss of acetylation; when associated with Q-257 and Q-264."; /evidence="ECO:0000269|PubMed:24556617"; MUTAGEN 225; /note="K->R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-257 and Q-264."; /evidence="ECO:0000269|PubMed:24556617"; MUTAGEN 257; /note="K->Q: Loss of acetylation; when associated with Q-225 and Q-264."; /evidence="ECO:0000269|PubMed:24556617"; MUTAGEN 257; /note="K->R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-264."; /evidence="ECO:0000269|PubMed:24556617"; MUTAGEN 264; /note="K->Q: Loss of acetylation; when associated with Q-225 and Q-257."; /evidence="ECO:0000269|PubMed:24556617"; MUTAGEN 264; /note="K->R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-257."; /evidence="ECO:0000269|PubMed:24556617
uniprot
proteins
post_translational_modification
PTM: Isoform 1 and isoform 2 are glycosylated. {ECO:0000269|PubMed:12042327}.; PTM: Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis. {ECO:0000269|PubMed:24556617}.
uniprot
proteins
protein_family
Prominin family
uniprot
proteins
pubmed
10587575
uniprot
proteins
pubmed
12042327
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17498271
uniprot
proteins
pubmed
17605048
uniprot
proteins
pubmed
17874118
uniprot
proteins
pubmed
18096722
uniprot
proteins
pubmed
18654668
uniprot
proteins
pubmed
19302789
uniprot
proteins
pubmed
20818439
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
24556617
uniprot
proteins
pubmed
35947379
uniprot
proteins
pubmed
9389720
uniprot
proteins
pubmed
9389721
uniprot
proteins
sequence_length
865
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, microvillus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Note=Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine.
uniprot
proteins
transmembrane_region
TRANSMEM 109..129; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 158..178; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 434..454; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 487..507; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 793..813; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins