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Protein

Prominin-1

Gene

PROM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Molecular functioni

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

GO - Biological processi

  • camera-type eye photoreceptor cell differentiation Source: UniProtKB
  • glomerular parietal epithelial cell differentiation Source: UniProtKB
  • glomerular visceral epithelial cell differentiation Source: UniProtKB
  • photoreceptor cell maintenance Source: BHF-UCL
  • positive regulation of nephron tubule epithelial cell differentiation Source: UniProtKB
  • retina layer formation Source: UniProtKB
  • retina morphogenesis in camera-type eye Source: BHF-UCL
Complete GO annotation...

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

HGNCiHGNC:9454. PROM1.

Subcellular locationi

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

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB-SubCell
  • cell surface Source: BHF-UCL
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • intracellular membrane-bounded organelle Source: HPA
  • microvillus membrane Source: UniProtKB-SubCell
  • photoreceptor outer segment Source: UniProtKB
  • photoreceptor outer segment membrane Source: BHF-UCL
  • plasma membrane Source: UniProtKB
  • vesicle Source: UniProtKB
Complete GO annotation...

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.
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 rs137853006dbSNPEnsembl.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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057961373R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 PublicationCorresponds to variant rs137853006dbSNPEnsembl.1
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057961373R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 PublicationCorresponds to variant rs137853006dbSNPEnsembl.1

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.
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...)Sequence analysis1
Modified residuei225N6-acetyllysine1 Publication1
Modified residuei257N6-acetyllysine1 Publication1
Modified residuei264N6-acetyllysine1 Publication1
Glycosylationi274N-linked (GlcNAc...)Sequence analysis1
Glycosylationi395N-linked (GlcNAc...)Sequence analysis1
Glycosylationi414N-linked (GlcNAc...)Sequence analysis1
Glycosylationi548N-linked (GlcNAc...)Sequence analysis1
Glycosylationi580N-linked (GlcNAc...)Sequence analysis1
Glycosylationi729N-linked (GlcNAc...)Sequence analysis1
Glycosylationi730N-linked (GlcNAc...)Sequence 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

MaxQBiO43490.
PaxDbiO43490.
PeptideAtlasiO43490.
PRIDEiO43490.

PTM databases

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.
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 a different organism.

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi114369. 4 interactors.
IntActiO43490. 4 interactors.
MINTiMINT-4724549.
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.
OMAiHLENSFD.
OrthoDBiEOG091G07PX.
PhylomeDBiO43490.
TreeFamiTF324631.

Family and domain databases

InterProiIPR008795. Prominin.
[Graphical view]
PANTHERiPTHR22730. PTHR22730. 1 hit.
PfamiPF05478. Prominin. 1 hit.
[Graphical view]

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

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

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 rs137853006dbSNPEnsembl.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. [O43490-3]
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

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. [O43490-3]
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. 4 interactors.
IntActiO43490. 4 interactors.
MINTiMINT-4724549.
STRINGi9606.ENSP00000415481.

PTM databases

iPTMnetiO43490.
PhosphoSitePlusiO43490.

Polymorphism and mutation databases

BioMutaiPROM1.

Proteomic databases

MaxQBiO43490.
PaxDbiO43490.
PeptideAtlasiO43490.
PRIDEiO43490.

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.
GeneCardsiPROM1.
GeneReviewsiPROM1.
H-InvDBHIX0004116.
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.
OMAiHLENSFD.
OrthoDBiEOG091G07PX.
PhylomeDBiO43490.
TreeFamiTF324631.

Enzyme and pathway databases

SIGNORiO43490.

Miscellaneous databases

ChiTaRSiPROM1. human.
GeneWikiiCD133.
GenomeRNAii8842.
PROiO43490.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000007062.
CleanExiHS_PROM1.
ExpressionAtlasiO43490. baseline and differential.
GenevisibleiO43490. HS.

Family and domain databases

InterProiIPR008795. Prominin.
[Graphical view]
PANTHERiPTHR22730. PTHR22730. 1 hit.
PfamiPF05478. Prominin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPROM1_HUMAN
AccessioniPrimary (citable) accession number: O43490
Secondary accession number(s): Q6SV49
, Q6SV50, Q6SV51, Q6SV52, Q6SV53, Q96EN6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: June 1, 1998
Last modified: November 2, 2016
This is version 156 of the entry and version 1 of the sequence. [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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.