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Protein

Prominin-1

Gene

PROM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).2 Publications

Miscellaneous

Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell isolation.

GO - Molecular functioni

  • actinin binding Source: BHF-UCL
  • cadherin binding Source: BHF-UCL
  • cholesterol binding Source: GO_Central

GO - Biological processi

Enzyme and pathway databases

SIGNORiO43490

Names & Taxonomyi

Protein namesi
Recommended name:
Prominin-1
Alternative name(s):
Antigen AC133
Prominin-like protein 1
CD_antigen: CD133
Gene namesi
Name:PROM1
Synonyms:PROML1
ORF Names:MSTP061
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000007062.11
HGNCiHGNC:9454 PROM1
MIMi604365 gene
neXtProtiNX_O43490

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 108ExtracellularSequence analysisAdd BLAST89
Transmembranei109 – 129HelicalSequence analysisAdd BLAST21
Topological domaini130 – 157CytoplasmicSequence analysisAdd BLAST28
Transmembranei158 – 178HelicalSequence analysisAdd BLAST21
Topological domaini179 – 433ExtracellularSequence analysisAdd BLAST255
Transmembranei434 – 454HelicalSequence analysisAdd BLAST21
Topological domaini455 – 486CytoplasmicSequence analysisAdd BLAST32
Transmembranei487 – 507HelicalSequence analysisAdd BLAST21
Topological domaini508 – 792ExtracellularSequence analysisAdd BLAST285
Transmembranei793 – 813HelicalSequence analysisAdd BLAST21
Topological domaini814 – 865CytoplasmicSequence analysisAdd BLAST52

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 41 (RP41)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612095
Cone-rod dystrophy 12 (CORD12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:612657
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057961373R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 PublicationCorresponds to variant dbSNP:rs137853006EnsemblClinVar.1
Stargardt disease 4 (STGD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common hereditary macular degeneration. It is 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.
See also OMIM:603786
Retinal macular dystrophy 2 (MCDR2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.
See also OMIM:608051

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi225K → Q: Loss of acetylation; when associated with Q-257 and Q-264. 1 Publication1
Mutagenesisi225K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-257 and Q-264. 1 Publication1
Mutagenesisi257K → Q: Loss of acetylation; when associated with Q-225 and Q-264. 1 Publication1
Mutagenesisi257K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-264. 1 Publication1
Mutagenesisi264K → Q: Loss of acetylation; when associated with Q-225 and Q-257. 1 Publication1
Mutagenesisi264K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-257. 1 Publication1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Retinitis pigmentosa, Stargardt disease

Organism-specific databases

DisGeNETi8842
GeneReviewsiPROM1
MalaCardsiPROM1
MIMi603786 phenotype
608051 phenotype
612095 phenotype
612657 phenotype
OpenTargetsiENSG00000007062
Orphaneti1872 Cone rod dystrophy
319640 Retinal macular dystrophy type 2
791 Retinitis pigmentosa
827 Stargardt disease
PharmGKBiPA33807

Polymorphism and mutation databases

BioMutaiPROM1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000002581320 – 865Prominin-1Add BLAST846

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei225N6-acetyllysine1 Publication1
Modified residuei257N6-acetyllysine1 Publication1
Modified residuei264N6-acetyllysine1 Publication1
Glycosylationi274N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi395N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi414N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi548N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi580N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi729N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi730N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei863PhosphoserineCombined sources1

Post-translational modificationi

Isoform 1 and isoform 2 are glycosylated.1 Publication
Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis.1 Publication

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiO43490
MaxQBiO43490
PaxDbiO43490
PeptideAtlasiO43490
PRIDEiO43490
ProteomicsDBi48967
48968 [O43490-2]
48969 [O43490-3]
48970 [O43490-4]
48971 [O43490-5]
48972 [O43490-6]
48973 [O43490-7]

PTM databases

GlyConnecti1642
iPTMnetiO43490
PhosphoSitePlusiO43490

Expressioni

Tissue specificityi

Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000007062 Expressed in 189 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_PROM1
ExpressionAtlasiO43490 baseline and differential
GenevisibleiO43490 HS

Organism-specific databases

HPAiCAB011525
HPA004922
HPA031053

Interactioni

Subunit structurei

Interacts with CDHR1 and with actin filaments. Interacts with NAT8 and NAT8B.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Cdhr1Q8VHP63EBI-3447549,EBI-4395045From Mus musculus.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114369, 6 interactors
IntActiO43490, 4 interactors
STRINGi9606.ENSP00000415481

Structurei

3D structure databases

ProteinModelPortaliO43490
SMRiO43490
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the prominin family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4331 Eukaryota
ENOG410XRG0 LUCA
GeneTreeiENSGT00530000063586
HOGENOMiHOG000115704
HOVERGENiHBG053690
InParanoidiO43490
KOiK06532
OMAiHLYGIHN
OrthoDBiEOG091G07PX
PhylomeDBiO43490
TreeFamiTF324631

Family and domain databases

InterProiView protein in InterPro
IPR008795 Prominin
PANTHERiPTHR22730 PTHR22730, 1 hit
PfamiView protein in Pfam
PF05478 Prominin, 1 hit

Sequences (7+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43490-1) [UniParc]FASTAAdd to basket
Also known as: AC133-1, S2

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG
60 70 80 90 100
PIGILFELVH IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKPETVILGL
110 120 130 140 150
KIVYYEAGII LCCVLGLLFI ILMPLVGYFF CMCRCCNKCG GEMHQRQKEN
160 170 180 190 200
GPFLRKCFAI SLLVICIIIS IGIFYGFVAN HQVRTRIKRS RKLADSNFKD
210 220 230 240 250
LRTLLNETPE QIKYILAQYN TTKDKAFTDL NSINSVLGGG ILDRLRPNII
260 270 280 290 300
PVLDEIKSMA TAIKETKEAL ENMNSTLKSL HQQSTQLSSS LTSVKTSLRS
310 320 330 340 350
SLNDPLCLVH PSSETCNSIR LSLSQLNSNP ELRQLPPVDA ELDNVNNVLR
360 370 380 390 400
TDLDGLVQQG YQSLNDIPDR VQRQTTTVVA GIKRVLNSIG SDIDNVTQRL
410 420 430 440 450
PIQDILSAFS VYVNNTESYI HRNLPTLEEY DSYWWLGGLV ICSLLTLIVI
460 470 480 490 500
FYYLGLLCGV CGYDRHATPT TRGCVSNTGG VFLMVGVGLS FLFCWILMII
510 520 530 540 550
VVLTFVFGAN VEKLICEPYT SKELFRVLDT PYLLNEDWEY YLSGKLFNKS
560 570 580 590 600
KMKLTFEQVY SDCKKNRGTY GTLHLQNSFN ISEHLNINEH TGSISSELES
610 620 630 640 650
LKVNLNIFLL GAAGRKNLQD FAACGIDRMN YDSYLAQTGK SPAGVNLLSF
660 670 680 690 700
AYDLEAKANS LPPGNLRNSL KRDAQTIKTI HQQRVLPIEQ SLSTLYQSVK
710 720 730 740 750
ILQRTGNGLL ERVTRILASL DFAQNFITNN TSSVIIEETK KYGRTIIGYF
760 770 780 790 800
EHYLQWIEFS ISEKVASCKP VATALDTAVD VFLCSYIIDP LNLFWFGIGK
810 820 830 840 850
ATVFLLPALI FAVKLAKYYR RMDSEDVYDD VETIPMKNME NGNNGYHKDH
860
VYGIHNPVMT SPSQH
Length:865
Mass (Da):97,202
Last modified:June 1, 1998 - v1
Checksum:iD21CBC05ADB2DEDF
GO
Isoform 2 (identifier: O43490-2) [UniParc]FASTAAdd to basket
Also known as: AC133-2, S1

The sequence of this isoform differs from the canonical sequence as follows:
     92-100: Missing.

Show »
Length:856
Mass (Da):96,251
Checksum:iDFF0B7AFE0A02582
GO
Isoform 3 (identifier: O43490-3) [UniParc]FASTAAdd to basket
Also known as: S3

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     831-839: VETIPMKNM → SSWVTSVQC
     840-865: Missing.

Show »
Length:830
Mass (Da):93,270
Checksum:i00784B26BE20782F
GO
Isoform 4 (identifier: O43490-4) [UniParc]FASTAAdd to basket
Also known as: S10

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     839-861: Missing.

Show »
Length:833
Mass (Da):93,654
Checksum:iFB1AA693EBCAC598
GO
Isoform 5 (identifier: O43490-5) [UniParc]FASTAAdd to basket
Also known as: S7

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     831-861: Missing.

Show »
Length:825
Mass (Da):92,741
Checksum:i735D8F41DA466FE8
GO
Isoform 6 (identifier: O43490-6) [UniParc]FASTAAdd to basket
Also known as: S11

The sequence of this isoform differs from the canonical sequence as follows:
     831-861: Missing.

Show »
Length:834
Mass (Da):93,692
Checksum:i2640B433DC3E9328
GO
Isoform 7 (identifier: O43490-7) [UniParc]FASTAAdd to basket
Also known as: S12

The sequence of this isoform differs from the canonical sequence as follows:
     839-861: Missing.

Show »
Length:842
Mass (Da):94,605
Checksum:i8B7B74818E26D76C
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RIF3D6RIF3_HUMAN
Prominin-1
PROM1
57Annotation score:
H0Y9D4H0Y9D4_HUMAN
Prominin-1
PROM1
65Annotation score:
H0Y9Q5H0Y9Q5_HUMAN
Prominin-1
PROM1
93Annotation score:
D6RBI0D6RBI0_HUMAN
Prominin-1
PROM1
40Annotation score:
H0Y9M7H0Y9M7_HUMAN
Prominin-1
PROM1
54Annotation score:
D6RCC3D6RCC3_HUMAN
Prominin-1
PROM1
14Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti200D → A AA sequence (PubMed:9389721).Curated1
Sequence conflicti200D → P AA sequence (PubMed:9389721).Curated1
Sequence conflicti284S → D AA sequence (PubMed:9389721).Curated1
Sequence conflicti288S → R AA sequence (PubMed:9389721).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01038231A → G. 1
Natural variantiVAR_01038331A → S. 1
Natural variantiVAR_057961373R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 PublicationCorresponds to variant dbSNP:rs137853006EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03906992 – 100Missing in isoform 2. 4 Publications9
Alternative sequenceiVSP_04000093 – 101Missing in isoform 3, isoform 4 and isoform 5. 1 Publication9
Alternative sequenceiVSP_040001831 – 861Missing in isoform 5 and isoform 6. CuratedAdd BLAST31
Alternative sequenceiVSP_040002831 – 839VETIPMKNM → SSWVTSVQC in isoform 3. 1 Publication9
Alternative sequenceiVSP_040003839 – 861Missing in isoform 4 and isoform 7. CuratedAdd BLAST23
Alternative sequenceiVSP_040004840 – 865Missing in isoform 3. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027208 mRNA Translation: AAB92514.1
AF507034 mRNA Translation: AAM33415.1
AY449689 mRNA Translation: AAS19705.1
AY449690 mRNA Translation: AAS19706.1
AY449691 mRNA Translation: AAS19707.1
AY449692 mRNA Translation: AAS19708.1
AY449693 mRNA Translation: AAS19709.1
AF117225 mRNA Translation: AAO15307.1
AK027422 mRNA Translation: BAG51317.1
AC005598 Genomic DNA No translation available.
AC108063 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW92750.1
BC012089 mRNA Translation: AAH12089.1
CCDSiCCDS47029.1 [O43490-1]
CCDS54746.1 [O43490-2]
CCDS54747.1 [O43490-6]
CCDS54748.1 [O43490-7]
PIRiT09050
RefSeqiNP_001139319.1, NM_001145847.1 [O43490-2]
NP_001139320.1, NM_001145848.1 [O43490-2]
NP_001139321.1, NM_001145849.1 [O43490-7]
NP_001139322.1, NM_001145850.1 [O43490-6]
NP_001139323.1, NM_001145851.1 [O43490-4]
NP_001139324.1, NM_001145852.1 [O43490-5]
NP_006008.1, NM_006017.2 [O43490-1]
XP_005248252.1, XM_005248195.4 [O43490-4]
XP_005248253.1, XM_005248196.4 [O43490-5]
XP_011512192.1, XM_011513890.1 [O43490-1]
XP_011512194.1, XM_011513892.2 [O43490-1]
XP_011512195.1, XM_011513893.2 [O43490-1]
XP_011512196.1, XM_011513894.2 [O43490-1]
XP_011512197.1, XM_011513895.2 [O43490-1]
XP_011512198.1, XM_011513896.2 [O43490-1]
XP_011512199.1, XM_011513897.2 [O43490-1]
XP_011512201.2, XM_011513899.2
XP_011512202.1, XM_011513900.2 [O43490-7]
XP_011512204.1, XM_011513902.2 [O43490-6]
XP_016864288.1, XM_017008799.1 [O43490-2]
XP_016864291.1, XM_017008802.1 [O43490-6]
XP_016864292.1, XM_017008803.1 [O43490-5]
XP_016864293.1, XM_017008804.1 [O43490-5]
XP_016864294.1, XM_017008805.1 [O43490-5]
UniGeneiHs.614734

Genome annotation databases

EnsembliENST00000447510; ENSP00000415481; ENSG00000007062 [O43490-1]
ENST00000505450; ENSP00000426090; ENSG00000007062 [O43490-2]
ENST00000508167; ENSP00000427346; ENSG00000007062 [O43490-2]
ENST00000510224; ENSP00000426809; ENSG00000007062 [O43490-1]
ENST00000539194; ENSP00000443620; ENSG00000007062 [O43490-6]
ENST00000540805; ENSP00000438045; ENSG00000007062 [O43490-7]
GeneIDi8842
KEGGihsa:8842
UCSCiuc003goo.2 human [O43490-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mutations of the PROM1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027208 mRNA Translation: AAB92514.1
AF507034 mRNA Translation: AAM33415.1
AY449689 mRNA Translation: AAS19705.1
AY449690 mRNA Translation: AAS19706.1
AY449691 mRNA Translation: AAS19707.1
AY449692 mRNA Translation: AAS19708.1
AY449693 mRNA Translation: AAS19709.1
AF117225 mRNA Translation: AAO15307.1
AK027422 mRNA Translation: BAG51317.1
AC005598 Genomic DNA No translation available.
AC108063 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW92750.1
BC012089 mRNA Translation: AAH12089.1
CCDSiCCDS47029.1 [O43490-1]
CCDS54746.1 [O43490-2]
CCDS54747.1 [O43490-6]
CCDS54748.1 [O43490-7]
PIRiT09050
RefSeqiNP_001139319.1, NM_001145847.1 [O43490-2]
NP_001139320.1, NM_001145848.1 [O43490-2]
NP_001139321.1, NM_001145849.1 [O43490-7]
NP_001139322.1, NM_001145850.1 [O43490-6]
NP_001139323.1, NM_001145851.1 [O43490-4]
NP_001139324.1, NM_001145852.1 [O43490-5]
NP_006008.1, NM_006017.2 [O43490-1]
XP_005248252.1, XM_005248195.4 [O43490-4]
XP_005248253.1, XM_005248196.4 [O43490-5]
XP_011512192.1, XM_011513890.1 [O43490-1]
XP_011512194.1, XM_011513892.2 [O43490-1]
XP_011512195.1, XM_011513893.2 [O43490-1]
XP_011512196.1, XM_011513894.2 [O43490-1]
XP_011512197.1, XM_011513895.2 [O43490-1]
XP_011512198.1, XM_011513896.2 [O43490-1]
XP_011512199.1, XM_011513897.2 [O43490-1]
XP_011512201.2, XM_011513899.2
XP_011512202.1, XM_011513900.2 [O43490-7]
XP_011512204.1, XM_011513902.2 [O43490-6]
XP_016864288.1, XM_017008799.1 [O43490-2]
XP_016864291.1, XM_017008802.1 [O43490-6]
XP_016864292.1, XM_017008803.1 [O43490-5]
XP_016864293.1, XM_017008804.1 [O43490-5]
XP_016864294.1, XM_017008805.1 [O43490-5]
UniGeneiHs.614734

3D structure databases

ProteinModelPortaliO43490
SMRiO43490
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114369, 6 interactors
IntActiO43490, 4 interactors
STRINGi9606.ENSP00000415481

PTM databases

GlyConnecti1642
iPTMnetiO43490
PhosphoSitePlusiO43490

Polymorphism and mutation databases

BioMutaiPROM1

Proteomic databases

EPDiO43490
MaxQBiO43490
PaxDbiO43490
PeptideAtlasiO43490
PRIDEiO43490
ProteomicsDBi48967
48968 [O43490-2]
48969 [O43490-3]
48970 [O43490-4]
48971 [O43490-5]
48972 [O43490-6]
48973 [O43490-7]

Protocols and materials databases

DNASUi8842
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000447510; ENSP00000415481; ENSG00000007062 [O43490-1]
ENST00000505450; ENSP00000426090; ENSG00000007062 [O43490-2]
ENST00000508167; ENSP00000427346; ENSG00000007062 [O43490-2]
ENST00000510224; ENSP00000426809; ENSG00000007062 [O43490-1]
ENST00000539194; ENSP00000443620; ENSG00000007062 [O43490-6]
ENST00000540805; ENSP00000438045; ENSG00000007062 [O43490-7]
GeneIDi8842
KEGGihsa:8842
UCSCiuc003goo.2 human [O43490-1]

Organism-specific databases

CTDi8842
DisGeNETi8842
EuPathDBiHostDB:ENSG00000007062.11
GeneCardsiPROM1
GeneReviewsiPROM1
H-InvDBiHIX0004116
HGNCiHGNC:9454 PROM1
HPAiCAB011525
HPA004922
HPA031053
MalaCardsiPROM1
MIMi603786 phenotype
604365 gene
608051 phenotype
612095 phenotype
612657 phenotype
neXtProtiNX_O43490
OpenTargetsiENSG00000007062
Orphaneti1872 Cone rod dystrophy
319640 Retinal macular dystrophy type 2
791 Retinitis pigmentosa
827 Stargardt disease
PharmGKBiPA33807
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4331 Eukaryota
ENOG410XRG0 LUCA
GeneTreeiENSGT00530000063586
HOGENOMiHOG000115704
HOVERGENiHBG053690
InParanoidiO43490
KOiK06532
OMAiHLYGIHN
OrthoDBiEOG091G07PX
PhylomeDBiO43490
TreeFamiTF324631

Enzyme and pathway databases

SIGNORiO43490

Miscellaneous databases

ChiTaRSiPROM1 human
GeneWikiiCD133
GenomeRNAii8842
PROiPR:O43490
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000007062 Expressed in 189 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_PROM1
ExpressionAtlasiO43490 baseline and differential
GenevisibleiO43490 HS

Family and domain databases

InterProiView protein in InterPro
IPR008795 Prominin
PANTHERiPTHR22730 PTHR22730, 1 hit
PfamiView protein in Pfam
PF05478 Prominin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPROM1_HUMAN
AccessioniPrimary (citable) accession number: O43490
Secondary accession number(s): Q6SV49
, Q6SV50, Q6SV51, Q6SV52, Q6SV53, Q96EN6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: June 1, 1998
Last modified: November 7, 2018
This is version 167 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
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