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O43490

- PROM1_HUMAN

UniProt

O43490 - PROM1_HUMAN

Protein

Prominin-1

Gene

PROM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    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
    3. protein binding Source: IntAct

    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

    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.

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB-SubCell
    2. brush border Source: Ensembl
    3. cell surface Source: BHF-UCL
    4. extracellular space Source: UniProt
    5. extracellular vesicular exosome Source: UniProtKB
    6. integral component of plasma membrane Source: ProtInc
    7. microvillus membrane Source: UniProtKB-SubCell
    8. photoreceptor outer segment Source: UniProtKB
    9. photoreceptor outer segment membrane Source: BHF-UCL
    10. plasma membrane Source: UniProtKB
    11. stereocilium Source: Ensembl
    12. vesicle Source: UniProtKB

    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

    ArrayExpressiO43490.
    BgeeiO43490.
    CleanExiHS_PROM1.
    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...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini20 – 10889ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini130 – 15728CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini179 – 433255ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini455 – 48632CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini508 – 792285ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini814 – 86552CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei109 – 12921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei158 – 17821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei434 – 45421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei487 – 50721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei793 – 81321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the prominin family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG322325.
    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

    MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG    50
    PIGILFELVH IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKPETVILGL 100
    KIVYYEAGII LCCVLGLLFI ILMPLVGYFF CMCRCCNKCG GEMHQRQKEN 150
    GPFLRKCFAI SLLVICIIIS IGIFYGFVAN HQVRTRIKRS RKLADSNFKD 200
    LRTLLNETPE QIKYILAQYN TTKDKAFTDL NSINSVLGGG ILDRLRPNII 250
    PVLDEIKSMA TAIKETKEAL ENMNSTLKSL HQQSTQLSSS LTSVKTSLRS 300
    SLNDPLCLVH PSSETCNSIR LSLSQLNSNP ELRQLPPVDA ELDNVNNVLR 350
    TDLDGLVQQG YQSLNDIPDR VQRQTTTVVA GIKRVLNSIG SDIDNVTQRL 400
    PIQDILSAFS VYVNNTESYI HRNLPTLEEY DSYWWLGGLV ICSLLTLIVI 450
    FYYLGLLCGV CGYDRHATPT TRGCVSNTGG VFLMVGVGLS FLFCWILMII 500
    VVLTFVFGAN VEKLICEPYT SKELFRVLDT PYLLNEDWEY YLSGKLFNKS 550
    KMKLTFEQVY SDCKKNRGTY GTLHLQNSFN ISEHLNINEH TGSISSELES 600
    LKVNLNIFLL GAAGRKNLQD FAACGIDRMN YDSYLAQTGK SPAGVNLLSF 650
    AYDLEAKANS LPPGNLRNSL KRDAQTIKTI HQQRVLPIEQ SLSTLYQSVK 700
    ILQRTGNGLL ERVTRILASL DFAQNFITNN TSSVIIEETK KYGRTIIGYF 750
    EHYLQWIEFS ISEKVASCKP VATALDTAVD VFLCSYIIDP LNLFWFGIGK 800
    ATVFLLPALI FAVKLAKYYR RMDSEDVYDD VETIPMKNME NGNNGYHKDH 850
    VYGIHNPVMT SPSQH 865
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    ArrayExpressi O43490.
    Bgeei O43490.
    CleanExi HS_PROM1.
    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

    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 1, 2014
    This is version 138 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