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O43490

- PROM1_HUMAN

UniProt

O43490 - PROM1_HUMAN

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Protein

Prominin-1

Gene

PROM1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. actinin binding Source: BHF-UCL
  2. cadherin binding Source: BHF-UCL

GO - Biological processi

  1. camera-type eye photoreceptor cell differentiation Source: UniProtKB
  2. glomerular parietal epithelial cell differentiation Source: UniProtKB
  3. glomerular visceral epithelial cell differentiation Source: UniProtKB
  4. photoreceptor cell maintenance Source: BHF-UCL
  5. positive regulation of nephron tubule epithelial cell differentiation Source: UniProtKB
  6. retina layer formation Source: UniProtKB
  7. retina morphogenesis in camera-type eye Source: BHF-UCL
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:9454. PROM1.

Subcellular locationi

Apical cell membrane By similarity; Multi-pass membrane protein By similarity. Cell projectionmicrovillus membrane By similarity; Multi-pass membrane protein By similarity. Cell projectionciliumphotoreceptor outer segment By similarity. 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini20 – 10889ExtracellularSequence AnalysisAdd
BLAST
Transmembranei109 – 12921HelicalSequence AnalysisAdd
BLAST
Topological domaini130 – 15728CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei158 – 17821HelicalSequence AnalysisAdd
BLAST
Topological domaini179 – 433255ExtracellularSequence AnalysisAdd
BLAST
Transmembranei434 – 45421HelicalSequence AnalysisAdd
BLAST
Topological domaini455 – 48632CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei487 – 50721HelicalSequence AnalysisAdd
BLAST
Topological domaini508 – 792285ExtracellularSequence AnalysisAdd
BLAST
Transmembranei793 – 81321HelicalSequence AnalysisAdd
BLAST
Topological domaini814 – 86552CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. brush border Source: Ensembl
  3. cell surface Source: BHF-UCL
  4. endoplasmic reticulum Source: UniProtKB
  5. endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  6. extracellular space Source: UniProt
  7. extracellular vesicular exosome Source: UniProtKB
  8. integral component of plasma membrane Source: ProtInc
  9. photoreceptor outer segment Source: UniProtKB
  10. photoreceptor outer segment membrane Source: BHF-UCL
  11. plasma membrane Source: UniProtKB
  12. stereocilium Source: Ensembl
  13. 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) [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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti373 – 3731R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 Publication
VAR_057961
Stargardt disease 4 (STGD4) [MIM:603786]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti373 – 3731R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 Publication
VAR_057961
Retinal macular dystrophy 2 (MCDR2) [MIM:608051]: A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti373 – 3731R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 Publication
VAR_057961

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi225 – 2251K → Q: Loss of acetylation; when associated with Q-257 and Q-264. 1 Publication
Mutagenesisi225 – 2251K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-257 and Q-264. 1 Publication
Mutagenesisi257 – 2571K → Q: Loss of acetylation; when associated with Q-225 and Q-264. 1 Publication
Mutagenesisi257 – 2571K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-264. 1 Publication
Mutagenesisi264 – 2641K → Q: Loss of acetylation; when associated with Q-225 and Q-257. 1 Publication
Mutagenesisi264 – 2641K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-257. 1 Publication

Keywords - Diseasei

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

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Sequence AnalysisAdd
BLAST
Chaini20 – 865846Prominin-1PRO_0000025813Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi220 – 2201N-linked (GlcNAc...)Sequence Analysis
Modified residuei225 – 2251N6-acetyllysine1 Publication
Modified residuei257 – 2571N6-acetyllysine1 Publication
Modified residuei264 – 2641N6-acetyllysine1 Publication
Glycosylationi274 – 2741N-linked (GlcNAc...)Sequence Analysis
Glycosylationi395 – 3951N-linked (GlcNAc...)Sequence Analysis
Glycosylationi414 – 4141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi548 – 5481N-linked (GlcNAc...)Sequence Analysis
Glycosylationi580 – 5801N-linked (GlcNAc...)Sequence Analysis
Glycosylationi729 – 7291N-linked (GlcNAc...)Sequence Analysis
Glycosylationi730 – 7301N-linked (GlcNAc...)Sequence Analysis
Modified residuei863 – 8631Phosphoserine1 Publication

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.
PRIDEiO43490.

PTM databases

PhosphoSiteiO43490.

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

BgeeiO43490.
CleanExiHS_PROM1.
ExpressionAtlasiO43490. baseline and differential.
GenevestigatoriO43490.

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.

Protein-protein interaction databases

BioGridi114369. 3 interactions.
IntActiO43490. 4 interactions.
MINTiMINT-4724549.
STRINGi9606.ENSP00000415481.

Structurei

3D structure databases

ProteinModelPortaliO43490.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the prominin family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG322325.
GeneTreeiENSGT00530000063586.
HOGENOMiHOG000115704.
HOVERGENiHBG053690.
InParanoidiO43490.
KOiK06532.
OMAiIHNPVMT.
OrthoDBiEOG7TQV02.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti200 – 2001D → A AA sequence (PubMed:9389721)Curated
Sequence conflicti200 – 2001D → P AA sequence (PubMed:9389721)Curated
Sequence conflicti284 – 2841S → D AA sequence (PubMed:9389721)Curated
Sequence conflicti288 – 2881S → R AA sequence (PubMed:9389721)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311A → G.
VAR_010382
Natural varianti31 – 311A → S.
VAR_010383
Natural varianti373 – 3731R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 Publication
VAR_057961

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei92 – 1009Missing in isoform 2. 4 PublicationsVSP_039069
Alternative sequencei93 – 1019Missing in isoform 3, isoform 4 and isoform 5. 1 PublicationVSP_040000
Alternative sequencei831 – 86131Missing in isoform 5 and isoform 6. CuratedVSP_040001Add
BLAST
Alternative sequencei831 – 8399VETIPMKNM → SSWVTSVQC in isoform 3. 1 PublicationVSP_040002
Alternative sequencei839 – 86123Missing in isoform 4 and isoform 7. CuratedVSP_040003Add
BLAST
Alternative sequencei840 – 86526Missing in isoform 3. 1 PublicationVSP_040004Add
BLAST

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_005248195.2. [O43490-4]
XP_005248253.1. XM_005248196.2. [O43490-5]
XP_006714036.1. XM_006713973.1. [O43490-2]
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]
uc003gop.2. human. [O43490-2]
uc003gor.2. human. [O43490-7]
uc003gos.2. human. [O43490-4]
uc003got.2. human. [O43490-6]
uc003gou.2. human. [O43490-5]

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 .
CCDSi CCDS47029.1. [O43490-1 ]
CCDS54746.1. [O43490-2 ]
CCDS54747.1. [O43490-6 ]
CCDS54748.1. [O43490-7 ]
PIRi T09050.
RefSeqi NP_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_005248195.2. [O43490-4 ]
XP_005248253.1. XM_005248196.2. [O43490-5 ]
XP_006714036.1. XM_006713973.1. [O43490-2 ]
UniGenei Hs.614734.

3D structure databases

ProteinModelPortali O43490.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114369. 3 interactions.
IntActi O43490. 4 interactions.
MINTi MINT-4724549.
STRINGi 9606.ENSP00000415481.

PTM databases

PhosphoSitei O43490.

Proteomic databases

MaxQBi O43490.
PaxDbi O43490.
PRIDEi O43490.

Protocols and materials databases

DNASUi 8842.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000447510 ; 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 ]
GeneIDi 8842.
KEGGi hsa:8842.
UCSCi uc003goo.2. human. [O43490-1 ]
uc003gop.2. human. [O43490-2 ]
uc003gor.2. human. [O43490-7 ]
uc003gos.2. human. [O43490-4 ]
uc003got.2. human. [O43490-6 ]
uc003gou.2. human. [O43490-5 ]

Organism-specific databases

CTDi 8842.
GeneCardsi GC04M015965.
GeneReviewsi PROM1.
H-InvDB HIX0004116.
HGNCi HGNC:9454. PROM1.
HPAi CAB011525.
HPA004922.
HPA031053.
MIMi 603786. phenotype.
604365. gene.
608051. phenotype.
612095. phenotype.
612657. phenotype.
neXtProti NX_O43490.
Orphaneti 1872. Cone rod dystrophy.
319640. Retinal macular dystrophy type 2.
791. Retinitis pigmentosa.
827. Stargardt disease.
PharmGKBi PA33807.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG322325.
GeneTreei ENSGT00530000063586.
HOGENOMi HOG000115704.
HOVERGENi HBG053690.
InParanoidi O43490.
KOi K06532.
OMAi IHNPVMT.
OrthoDBi EOG7TQV02.
PhylomeDBi O43490.
TreeFami TF324631.

Miscellaneous databases

ChiTaRSi PROM1. human.
GeneWikii CD133.
GenomeRNAii 8842.
NextBioi 33194.
PROi O43490.
SOURCEi Search...

Gene expression databases

Bgeei O43490.
CleanExi HS_PROM1.
ExpressionAtlasi O43490. baseline and differential.
Genevestigatori O43490.

Family and domain databases

InterProi IPR008795. Prominin.
[Graphical view ]
PANTHERi PTHR22730. PTHR22730. 1 hit.
Pfami PF05478. Prominin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning."
    Miraglia S., Godfrey W., Yin A.H., Atkins K., Warnke R., Holden J.T., Bray R.A., Waller E.K., Buck D.W.
    Blood 90:5013-5021(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 31-42; 200-211; 280-291 AND 641-656.
    Tissue: Fetal liver and Retinoblastoma.
  2. "AC133-2, a novel isoform of human AC133 stem cell antigen."
    Yu Y., Flint A., Dvorin E.L., Bischoff J.
    J. Biol. Chem. 277:20711-20716(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION.
  3. "Identification and functional analysis of several isoforms of hematopoitic stem cell surface maker prominin-1 (AC133)."
    Lin J., Shmelkov S.V., Karajannis M.A., StClair R., Walsh K., Gordon R., Shido K., Lam G., Moussazadeh N., Shim W., Rafii S.
    Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Aorta.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  6. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Colon.
  9. "AC133, a novel marker for human hematopoietic stem and progenitor cells."
    Yin A.H., Miraglia S., Zanjani E.D., Almeida-Porada G., Ogawa M., Leary A.G., Olweus J., Kearney J., Buck D.W.
    Blood 90:5002-5012(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
    Tissue: Fetal liver.
  10. "Differential expression of prominin-1 (CD133) and prominin-2 in major cephalic exocrine glands of adult mice."
    Jaszai J., Janich P., Farkas L.M., Fargeas C.A., Huttner W.B., Corbeil D.
    Histochem. Cell Biol. 128:409-419(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  11. "Nomenclature of prominin-1 (CD133) splice variants - an update."
    Fargeas C.A., Huttner W.B., Corbeil D.
    Tissue Antigens 69:602-606(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NOMENCLATURE OF ISOFORMS.
  12. "The stem cell marker prominin-1/CD133 on membrane particles in human cerebrospinal fluid offers novel approaches for studying central nervous system disease."
    Huttner H.B., Janich P., Koehrmann M., Jaszai J., Siebzehnrubl F., Bluemcke I., Suttorp M., Gahr M., Kuhnt D., Nimsky C., Krex D., Schackert G., Loewenbrueck K., Reichmann H., Juettler E., Hacke W., Schellinger P.D., Schwab S.
    , Wilsch-Braeuninger M., Marzesco A.M., Corbeil D.
    Stem Cells 26:698-705(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  13. "Release of extracellular membrane vesicles from microvilli of epithelial cells is enhanced by depleting membrane cholesterol."
    Marzesco A.M., Wilsch-Brauninger M., Dubreuil V., Janich P., Langenfeld K., Thiele C., Huttner W.B., Corbeil D.
    FEBS Lett. 583:897-902(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  14. "CD133 suppresses neuroblastoma cell differentiation via signal pathway modification."
    Takenobu H., Shimozato O., Nakamura T., Ochiai H., Yamaguchi Y., Ohira M., Nakagawara A., Kamijo T.
    Oncogene 30:97-105(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  15. Cited for: INVOLVEMENT IN RP41.
  16. "Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene."
    Zhang Q., Zulfiqar F., Xiao X., Riazuddin S.A., Ahmad Z., Caruso R., MacDonald I., Sieving P., Riazuddin S., Hejtmancik J.F.
    Hum. Genet. 122:293-299(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RP41.
  17. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-863, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. "Post-translational regulation of CD133 by ATase1/ATase2-mediated lysine acetylation."
    Mak A.B., Pehar M., Nixon A.M., Williams R.A., Uetrecht A.C., Puglielli L., Moffat J.
    J. Mol. Biol. 426:2175-2182(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION, SUBCELLULAR LOCATION, ACETYLATION AT LYS-225; LYS-257 AND LYS-264 BY NAT8 AND NAT8B, MUTAGENESIS OF LYS-225; LYS-257 AND LYS-264, INTERACTION WITH NAT8 AND NAT8B.
  19. Cited for: VARIANT CORD12/STGD4/MCDR2 CYS-373, INTERACTION WITH CDHR1 AND ACTIN, CHARACTERIZATION OF VARIANT CORD12/STGD4/MCDR2 CYS-373.

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: October 29, 2014
This is version 139 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

External Data

Dasty 3