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    PROM1 prominin 1 [ Homo sapiens (human) ]

    Gene ID: 8842, updated on 27-Nov-2017
    Official Symbol
    PROM1provided by HGNC
    Official Full Name
    prominin 1provided by HGNC
    Primary source
    HGNC:HGNC:9454
    See related
    Ensembl:ENSG00000007062 MIM:604365; Vega:OTTHUMG00000160180
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061
    Summary
    This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Expression
    Broad expression in gall bladder (RPKM 15.7), stomach (RPKM 10.2) and 18 other tissues See more
    Orthologs
    Location:
    4p15.32
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (15968226..16084100, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (15969849..16085723, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene fibroblast growth factor binding protein 1 Neighboring gene fibroblast growth factor binding protein 2 Neighboring gene uncharacterized LOC107986261 Neighboring gene uncharacterized LOC105374502

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Bull's eye macular dystrophy
    MedGen: C0339512 OMIM: 608051 GeneReviews: Not available
    Compare labs
    Cone-rod dystrophy 12
    MedGen: C2675210 OMIM: 612657 GeneReviews: Not available
    Compare labs
    Retinitis pigmentosa 41 Compare labs
    Stargardt disease 4
    MedGen: C1863534 OMIM: 603786 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of self-rated health.
    NHGRI GWA Catalog
    Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.
    NHGRI GWA Catalog
    Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
    NHGRI GWA Catalog
    GWAS of dental caries patterns in the permanent dentition.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actinin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    camera-type eye photoreceptor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    camera-type eye photoreceptor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glomerular parietal epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glomerular visceral epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of nephron tubule epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retina layer formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retina morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    microvillus membrane IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor outer segment membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    prominin-1
    Names
    antigen AC133
    hProminin
    hematopoietic stem cell antigen
    prominin-like protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011696.1 RefSeqGene

      Range
      12883..120775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145847.1NP_001139319.1  prominin-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001139319.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents one of several alternative promoters and 5' UTRs, and lacks an alternative in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2), also known as s1, lacks a 9 aa segment near the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AA622198, AC108063, AF117225, BC012089, DB326234
      Consensus CDS
      CCDS54746.1
      UniProtKB/Swiss-Prot
      O43490
      UniProtKB/TrEMBL
      A0A0A0N0M1
      Related
      ENSP00000427346.1, OTTHUMP00000217745, ENST00000508167.5, OTTHUMT00000359594
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    2. NM_001145848.1NP_001139320.1  prominin-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001139320.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents one of several alternative promoters and 5' UTRs, and lacks an alternative in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2), also known as s1, lacks a 9 aa segment near the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AA622198, BC012089, DB326234
      Consensus CDS
      CCDS54746.1
      UniProtKB/Swiss-Prot
      O43490
      UniProtKB/TrEMBL
      A0A0A0N0M1
      Related
      ENSP00000426090.1, OTTHUMP00000217744, ENST00000505450.5, OTTHUMT00000359592
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    3. NM_001145849.1NP_001139321.1  prominin-1 isoform 7 precursor

      See identical proteins and their annotated locations for NP_001139321.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (7), also known as s12, lacks an internal segment near the C-terminus, compared to isoform 1. The full structure of the 5' UTR for this variant has not been determined.
      Source sequence(s)
      AA622198, AY449693, BC012089, DB326234
      Consensus CDS
      CCDS54748.1
      UniProtKB/Swiss-Prot
      O43490
      Related
      ENSP00000438045.1, ENST00000540805.5
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    4. NM_001145850.1NP_001139322.1  prominin-1 isoform 6 precursor

      See identical proteins and their annotated locations for NP_001139322.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (6), also known as s11, lacks an internal segment near the C-terminus, compared to isoform 1. The full structure of the 5' UTR for this variant has not been determined.
      Source sequence(s)
      AA622198, AY449692, BC012089, DB326234
      Consensus CDS
      CCDS54747.1
      UniProtKB/Swiss-Prot
      O43490
      Related
      ENSP00000443620.1, ENST00000539194.5
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    5. NM_001145851.1NP_001139323.1  prominin-1 isoform 5 precursor

      See identical proteins and their annotated locations for NP_001139323.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region and a second in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (5), also known as s10, lacks an internal segment near the N-terminus and a second internal segment near the C-terminus, compared to isoform 1. The full structure of the 5' UTR for this variant has not been determined.
      Source sequence(s)
      AA622198, AY449691, BC012089, DB326234
      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    6. NM_001145852.1NP_001139324.1  prominin-1 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001139324.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region and two in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (4), also known as s7, lacks an internal segment near the N-terminus and a second internal segment near the C-terminus, compared to isoform 1. The full structure of the 5' UTR for this variant has not been determined.
      Source sequence(s)
      AA622198, AY449690, BC012089, DB326234
      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    7. NM_006017.2NP_006008.1  prominin-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006008.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest isoform (1), also known as s2. The full structure of the 5' UTR for this variant has not been determined.
      Source sequence(s)
      AA622198, AF027208, BC012089, DB326234
      Consensus CDS
      CCDS47029.1
      UniProtKB/Swiss-Prot
      O43490
      Related
      ENSP00000415481.2, ENST00000447510.6
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      15968226..16084100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248196.4XP_005248253.1  prominin-1 isoform X9

      See identical proteins and their annotated locations for XP_005248253.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    2. XM_005248195.4XP_005248252.1  prominin-1 isoform X7

      See identical proteins and their annotated locations for XP_005248252.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    3. XM_011513902.2XP_011512204.1  prominin-1 isoform X6

      See identical proteins and their annotated locations for XP_011512204.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    4. XM_011513900.2XP_011512202.1  prominin-1 isoform X3

      See identical proteins and their annotated locations for XP_011512202.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    5. XM_011513893.2XP_011512195.1  prominin-1 isoform X1

      See identical proteins and their annotated locations for XP_011512195.1

      UniProtKB/Swiss-Prot
      O43490
      Related
      ENSP00000426809.1, OTTHUMP00000217746, ENST00000510224.5, OTTHUMT00000359595
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    6. XM_017008803.1XP_016864292.1  prominin-1 isoform X9

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    7. XM_011513895.2XP_011512197.1  prominin-1 isoform X1

      See identical proteins and their annotated locations for XP_011512197.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    8. XM_011513897.2XP_011512199.1  prominin-1 isoform X1

      See identical proteins and their annotated locations for XP_011512199.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    9. XM_011513894.2XP_011512196.1  prominin-1 isoform X1

      See identical proteins and their annotated locations for XP_011512196.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    10. XM_017008802.1XP_016864291.1  prominin-1 isoform X6

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    11. XM_017008804.1XP_016864293.1  prominin-1 isoform X9

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    12. XM_017008805.1XP_016864294.1  prominin-1 isoform X9

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    13. XM_011513896.2XP_011512198.1  prominin-1 isoform X1

      See identical proteins and their annotated locations for XP_011512198.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    14. XM_011513892.2XP_011512194.1  prominin-1 isoform X1

      See identical proteins and their annotated locations for XP_011512194.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    15. XM_011513890.1XP_011512192.1  prominin-1 isoform X1

      See identical proteins and their annotated locations for XP_011512192.1

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18820
      Prominin; Prominin
    16. XM_017008799.1XP_016864288.1  prominin-1 isoform X2

      UniProtKB/Swiss-Prot
      O43490
      UniProtKB/TrEMBL
      A0A0A0N0M1
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    17. XM_011513903.2XP_011512205.1  prominin-1 isoform X10

      Conserved Domains (1) summary
      pfam05478
      Location:4751
      Prominin; Prominin
    18. XM_006713974.3XP_006714037.1  prominin-1 isoform X11

      Conserved Domains (1) summary
      pfam05478
      Location:4742
      Prominin; Prominin
    19. XM_017008801.1XP_016864290.1  prominin-1 isoform X5

    20. XM_011513899.2XP_011512201.2  prominin-1 isoform X8

      UniProtKB/Swiss-Prot
      O43490
      Conserved Domains (1) summary
      pfam05478
      Location:18811
      Prominin; Prominin
    21. XM_011513898.2XP_011512200.2  prominin-1 isoform X5

    22. XM_017008800.1XP_016864289.1  prominin-1 isoform X4

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      15967639..16083574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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