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PROM1 prominin 1 [ Homo sapiens (human) ]

Gene ID: 8842, updated on 21-Oct-2018

Summary

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

Genomic context

See PROM1 in Genome Data Viewer
Location:
4p15.32
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (15968226..16084059, 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
camera-type eye photoreceptor cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cilium IBA
Inferred from Biological aspect of Ancestor
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 HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microvillus IBA
Inferred from Biological aspect of Ancestor
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 
prominosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle HDA PubMed 

General protein information

Preferred Names
prominin-1
Names
antigen AC133
hProminin
hematopoietic stem cell antigen
prominin-like protein 1

NCBI Reference Sequences (RefSeq)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    15968226..16084059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513902.2XP_011512204.1  prominin-1 isoform X5

    See identical proteins and their annotated locations for XP_011512204.1

    UniProtKB/Swiss-Prot
    O43490
    Conserved Domains (1) summary
    pfam05478
    Location:18820
    Prominin; Prominin
  2. 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
  3. XM_005248196.5XP_005248253.1  prominin-1 isoform X7

    See identical proteins and their annotated locations for XP_005248253.1

    UniProtKB/Swiss-Prot
    O43490
    Conserved Domains (1) summary
    pfam05478
    Location:18811
    Prominin; Prominin
  4. XM_005248195.5XP_005248252.1  prominin-1 isoform X6

    See identical proteins and their annotated locations for XP_005248252.1

    UniProtKB/Swiss-Prot
    O43490
    Conserved Domains (1) summary
    pfam05478
    Location:18811
    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 X7

    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_011513897.3XP_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_017008802.1XP_016864291.1  prominin-1 isoform X5

    UniProtKB/Swiss-Prot
    O43490
    Conserved Domains (1) summary
    pfam05478
    Location:18820
    Prominin; Prominin
  10. XM_011513894.3XP_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
  11. XM_017008804.1XP_016864293.1  prominin-1 isoform X7

    UniProtKB/Swiss-Prot
    O43490
    Conserved Domains (1) summary
    pfam05478
    Location:18811
    Prominin; Prominin
  12. XM_017008805.1XP_016864294.1  prominin-1 isoform X7

    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_024454276.1XP_024310044.1  prominin-1 isoform X10

    Conserved Domains (1) summary
    pfam05478
    Location:4729
    Prominin
  17. 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
  18. XM_011513903.2XP_011512205.1  prominin-1 isoform X8

    Conserved Domains (1) summary
    pfam05478
    Location:4751
    Prominin; Prominin
  19. XM_006713974.3XP_006714037.1  prominin-1 isoform X9

    Conserved Domains (1) summary
    pfam05478
    Location:4742
    Prominin; Prominin
  20. XM_017008800.1XP_016864289.1  prominin-1 isoform X4

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