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Reviewed, UniProtKB/Swiss-Prot O43490 (PROM1_HUMAN)

Last modified November 25, 2008. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Prominin-1
Alternative name(s):
    Prominin-like protein 1
    Antigen AC133
    CD_antigen=CD133
Gene names
Name: PROM1
Synonyms: PROML1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length865 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Subcellular location

Apical cell membrane; Multi-pass membrane proteinBy similarity. Cell projection › microvillus membrane; Multi-pass membrane proteinBy similarity.

Tissue specificity

Selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Not detected on other blood cells. 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.

Post-translational modification

Glycosylated.

Involvement in disease

Defects in PROM1 are the cause of retinitis pigmentosa type 41 (RP41) [MIM:612095]; also known as retinal degeneration autosomal recessive prominin-related. RP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP 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.

Sequence similarities

Belongs to the prominin family.

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Ontologies

Keywords

   Biological processSensory transduction
Vision
   Cellular componentCell membrane
Cell projection
Membrane
   Coding sequence diversityPolymorphism
   DiseaseRetinitis pigmentosa
   DomainSignal
Transmembrane
   PTMGlycoprotein
Phosphoprotein
   Technical termDirect protein sequencing

Gene Ontology (GO)

   Biological processresponse to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentapical plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

cell surface

Inferred from direct assay. Source: UniProtKB

integral to plasma membrane Ref.2

Traceable author statement. Source: ProtInc

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 865846Prominin-1
PRO_0000025813

Regions

Topological domain20 – 10889Extracellular Potential
Transmembrane109 – 12921 Potential
Topological domain130 – 15728Cytoplasmic Potential
Transmembrane158 – 17821 Potential
Topological domain179 – 433255Extracellular Potential
Transmembrane434 – 45421 Potential
Topological domain455 – 48632Cytoplasmic Potential
Transmembrane487 – 50721 Potential
Topological domain508 – 792285Extracellular Potential
Transmembrane793 – 81321 Potential
Topological domain814 – 86552Cytoplasmic Potential

Amino acid modifications

Modified residue2661Phosphothreonine
Modified residue2751Phosphoserine
Modified residue2761Phosphothreonine
Glycosylation2201N-linked (GlcNAc...) Potential
Glycosylation2741N-linked (GlcNAc...) Potential
Glycosylation3951N-linked (GlcNAc...) Potential
Glycosylation4141N-linked (GlcNAc...) Potential
Glycosylation5481N-linked (GlcNAc...) Potential
Glycosylation5801N-linked (GlcNAc...) Potential
Glycosylation7291N-linked (GlcNAc...) Potential
Glycosylation7301N-linked (GlcNAc...) Potential

Natural variations

Natural variant311A → G
VAR_010382
Natural variant311A → S
VAR_010383

Experimental info

Sequence conflict2001D → A AA sequence Ref.1
Sequence conflict2001D → P AA sequence Ref.1
Sequence conflict2841S → D AA sequence Ref.1
Sequence conflict2881S → R AA sequence Ref.1

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Sequences

Sequence LengthMass (Da)Tools
O43490-1 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: D21CBC05ADB2DEDF

FASTA86597,202
        10         20         30         40         50         60 
MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH 

        70         80         90        100        110        120 
IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKPETVILGL KIVYYEAGII LCCVLGLLFI 

       130        140        150        160        170        180 
ILMPLVGYFF CMCRCCNKCG GEMHQRQKEN GPFLRKCFAI SLLVICIIIS IGIFYGFVAN 

       190        200        210        220        230        240 
HQVRTRIKRS RKLADSNFKD LRTLLNETPE QIKYILAQYN TTKDKAFTDL NSINSVLGGG 

       250        260        270        280        290        300 
ILDRLRPNII PVLDEIKSMA TAIKETKEAL ENMNSTLKSL HQQSTQLSSS LTSVKTSLRS 

       310        320        330        340        350        360 
SLNDPLCLVH PSSETCNSIR LSLSQLNSNP ELRQLPPVDA ELDNVNNVLR TDLDGLVQQG 

       370        380        390        400        410        420 
YQSLNDIPDR VQRQTTTVVA GIKRVLNSIG SDIDNVTQRL PIQDILSAFS VYVNNTESYI 

       430        440        450        460        470        480 
HRNLPTLEEY DSYWWLGGLV ICSLLTLIVI FYYLGLLCGV CGYDRHATPT TRGCVSNTGG 

       490        500        510        520        530        540 
VFLMVGVGLS FLFCWILMII VVLTFVFGAN VEKLICEPYT SKELFRVLDT PYLLNEDWEY 

       550        560        570        580        590        600 
YLSGKLFNKS KMKLTFEQVY SDCKKNRGTY GTLHLQNSFN ISEHLNINEH TGSISSELES 

       610        620        630        640        650        660 
LKVNLNIFLL GAAGRKNLQD FAACGIDRMN YDSYLAQTGK SPAGVNLLSF AYDLEAKANS 

       670        680        690        700        710        720 
LPPGNLRNSL KRDAQTIKTI HQQRVLPIEQ SLSTLYQSVK ILQRTGNGLL ERVTRILASL 

       730        740        750        760        770        780 
DFAQNFITNN TSSVIIEETK KYGRTIIGYF EHYLQWIEFS ISEKVASCKP VATALDTAVD 

       790        800        810        820        830        840 
VFLCSYIIDP LNLFWFGIGK ATVFLLPALI FAVKLAKYYR RMDSEDVYDD VETIPMKNME 

       850        860 
NGNNGYHKDH VYGIHNPVMT SPSQH

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References

« Hide 'large scale' references
[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: 9389721] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 31-42; 200-211; 280-291 AND 641-656.
Tissue: Fetal liver and Retinoblastoma.
[2]"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: 9389720] [Abstract]
Cited for: CHARACTERIZATION.
Tissue: Fetal liver.
[3]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed: 17081983] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-266; SER-275 AND THR-276, MASS SPECTROMETRY.
Tissue: Epithelium.
[4]"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: 17874118] [Abstract]
Cited for: TISSUE SPECIFICITY.
[5]"A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration."
Maw M.A., Corbeil D., Koch J., Hellwig A., Wilson-Wheeler J.C., Bridges R.J., Kumaramanickavel G., John S., Nancarrow D., Roeper K., Weigmann A., Huttner W.B., Denton M.J.
Hum. Mol. Genet. 9:27-34(2000) [PubMed: 10587575] [Abstract]
Cited for: INVOLVEMENT IN RP41.
[6]"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: 17605048] [Abstract]
Cited for: INVOLVEMENT IN RP41.

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Web resources

Mutations of the PROM1 gene

Retina International's Scientific Newsletter

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Cross-references

Sequence databases

AF027208 mRNA. Translation: AAB92514.1.
PIRT09050.
RefSeqNP_006008.1.
UniGeneHs.614734

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteO43490.

Genome annotation databases

EnsemblENSG00000007062. Homo sapiens. [Contig view]
GeneID8842.
KEGGhsa:8842.

Organism-specific databases

H-InvDBHIX0004116.
HGNCHGNC:9454. PROM1.
HPACAB011525.
HPA004922.
MIM604365. gene.
612095. phenotype.
Orphanet827. Stargardt disease.
PharmGKBPA33807.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMO43490.
HOVERGENO43490.

Gene expression databases

CleanExHS_PROM1.
GermOnlineENSG00000007062. Homo sapiens.

Family and domain databases

InterProIPR008795. Prominin.
[Graphical view]
PANTHERPTHR22730. Prominin. 1 hit.
PfamPF05478. Prominin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio33194.
SOURCESearch...

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Entry information

Entry namePROM1_HUMAN
AccessionPrimary (citable) accession number: O43490
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: June 1, 1998
Last modified: November 25, 2008
This is version 78 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents