Gene ID: 23532, updated on 12-Sep-2024
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Summary
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- Official Symbol
- PRAMEprovided by HGNC
- Official Full Name
- PRAME nuclear receptor transcriptional regulatorprovided by HGNC
- Primary source
- HGNC:HGNC:9336
- See related
- Ensembl:ENSG00000185686 MIM:606021; AllianceGenome:HGNC:9336
- Gene type
- protein coding
- RefSeq status
- REVIEWED
- Organism
- hom*o sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; hom*o
- Also known as
- MAPE; OIP4; CT130; OIP-4
- Summary
- This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
- Expression
- Restricted expression toward testis (RPKM 47.0) See more
- Orthologs
- all
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Genomic context
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- Location:
- 22q11.22
- Exon count:
- 8
| Annotation release | Status | Assembly | Chr | Location |
|---|---|---|---|---|
| RS_2024_08 | current | GRCh38.p14 (GCF_000001405.40) | 22 | NC_000022.11 (22547701..22559265, complement) |
| RS_2024_08 | current | T2T-CHM13v2.0 (GCF_009914755.1) | 22 | NC_060946.1 (22970590..22982125, complement) |
| RS_2024_09 | previous assembly | GRCh37.p13 (GCF_000001405.25) | 22 | NC_000022.10 (22890123..22901672, complement) |
Chromosome 22 - NC_000022.11![PRAME PRAME nuclear receptor transcriptional regulator [hom*o sapiens (human)] - Gene (1)](https://i0.wp.com/www.ncbi.nlm.nih.gov/gutils/geneneighb.fcgi?geneid=23532&nuc_gi=568815576&n0=IGL&n1=ZNF280B&n2=ZNF280A&n3=LOC124905161&n4=LOC126863101&n5=PRAME&n6=LOC129664812&n7=LOC108491837&n8=LL22NC03-63E9.3&n9=LOC127895478&n10=IGLV2-34 "PRAME PRAME nuclear receptor transcriptional regulator [hom*o sapiens (human)] - Gene (1)")
Genomic regions, transcripts, and products
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Expression
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- Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018
Bibliography
Related articles in PubMed
- Quantitative expression evaluation of PRAME gene in osteosarcoma. Kuruwitage Ishikawa AS, et al. Mol Biol Rep, 2023 May. PMID 36922454
- PRAME Expression in Mucosal Melanoma of the Head and Neck Region. Ricci C, et al. Am J Surg Pathol, 2023 May 1. PMID 36912431, Free PMC Article
- PRAME is a useful marker for the differential diagnosis of melanocytic tumours and histological mimics. Chen YP, et al. Histopathology, 2023 Jan. PMID 36200756
- PRAME Expression in Cancer. A Systematic Immunohistochemical Study of >5800 Epithelial and Nonepithelial Tumors. Kaczorowski M, et al. Am J Surg Pathol, 2022 Nov 1. PMID 35973038, Free PMC Article
- [Application of immunohistochemical staining of PRAME in differential diagnosis between melanoma and melanocytic nevus]. Du J, et al. Zhonghua Bing Li Xue Za Zhi, 2022 Jul 8. PMID 35785832
GeneRIFs: Gene References Into Functions
- PReferentially Expressed Antigen in MElanoma Expression in Uterine and Ovarian Carcinosarcomas.
Title: PReferentially Expressed Antigen in MElanoma Expression in Uterine and Ovarian Carcinosarcomas.
- Targeting PRAME for acute myeloid leukemia therapy.
Title: Targeting PRAME for acute myeloid leukemia therapy.
- PRAME induces genomic instability in uveal melanoma.
Title: PRAME induces genomic instability in uveal melanoma.
- PRAME Updated: Diagnostic, Prognostic, and Therapeutic Role in Skin Cancer.
Title: PRAME Updated: Diagnostic, Prognostic, and Therapeutic Role in Skin Cancer.
- Refining the application of PRAME-a useful marker in high CSD and acral melanoma subtypes.
Title: Refining the application of PRAME-a useful marker in high CSD and acral melanoma subtypes.
- Characterisation of the protein expression of the emerging immunotherapy targets VISTA, LAG-3 and PRAME in primary uveal melanoma: insights from a southern French patient cohort.
Title: Characterisation of the protein expression of the emerging immunotherapy targets VISTA, LAG-3 and PRAME in primary uveal melanoma: insights from a southern French patient cohort.
- Immunohistochemistry for PRAME in Dermatopathology.
Title: Immunohistochemistry for PRAME in Dermatopathology.
- PRAME and LEF1 in Combined Deep Penetrating Nevus and Combined Blue Nevus: Utility and Pitfalls.
Title: PRAME and LEF1 in Combined Deep Penetrating Nevus and Combined Blue Nevus: Utility and Pitfalls.
- Potential diagnostic utility of PRAME and p16 immunohistochemistry in melanocytic nevi and malignant melanoma.
Title: Potential diagnostic utility of PRAME and p16 immunohistochemistry in melanocytic nevi and malignant melanoma.
- Quantitative expression evaluation of PRAME gene in osteosarcoma.
Title: Quantitative expression evaluation of PRAME gene in osteosarcoma.
Phenotypes
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Variation
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Interactions
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| Products | Interactant | Other Gene | Complex | Source | Pubs | Description |
|---|
General gene information
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Markers
- RH48178 (e-PCR)
- RH70693 (e-PCR)
Gene Ontology Provided by GOA
| Function | Evidence Code | Pubs |
|---|---|---|
| enables nuclear retinoic acid receptor binding | IBA Inferred from Biological aspect of Ancestor | |
| enables nuclear retinoic acid receptor binding | IDA Inferred from Direct Assay | PubMed |
| enables protein binding | IPI Inferred from Physical Interaction | PubMed |
| enables ubiquitin-like ligase-substrate adaptor activity | IDA Inferred from Direct Assay | PubMed |
| Process | Evidence Code | Pubs |
|---|---|---|
| involved_in apoptotic process | IEA Inferred from Electronic Annotation | |
| involved_in cell differentiation | IEA Inferred from Electronic Annotation | |
| involved_in negative regulation of DNA-templated transcription | IDA Inferred from Direct Assay | PubMed |
| involved_in negative regulation of apoptotic process | IDA Inferred from Direct Assay | PubMed |
| involved_in negative regulation of cell differentiation | IDA Inferred from Direct Assay | PubMed |
| involved_in negative regulation of retinoic acid receptor signaling pathway | IDA Inferred from Direct Assay | PubMed |
| involved_in positive regulation of cell population proliferation | IDA Inferred from Direct Assay | PubMed |
| involved_in proteasome-mediated ubiquitin-dependent protein catabolic process | IDA Inferred from Direct Assay | PubMed |
| involved_in protein polyubiquitination | IDA Inferred from Direct Assay | PubMed |
| Component | Evidence Code | Pubs |
|---|---|---|
| part_of Cul2-RING ubiquitin ligase complex | IDA Inferred from Direct Assay | PubMed |
| located_in Golgi apparatus | IEA Inferred from Electronic Annotation | |
| part_of chromatin | IDA Inferred from Direct Assay | PubMed |
| is_active_in cytoplasm | IBA Inferred from Biological aspect of Ancestor | |
| located_in nucleoplasm | IDA Inferred from Direct Assay | |
| is_active_in nucleus | IDA Inferred from Direct Assay | PubMed |
| located_in plasma membrane | IDA Inferred from Direct Assay |
General protein information
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- Preferred Names
- melanoma antigen preferentially expressed in tumors
- Names
- Opa-interacting protein OIP4
- cancer/testis antigen 130
- opa-interacting protein 4
- preferentially expressed antigen in melanoma
- preferentially expressed antigen of melanoma
NCBI Reference Sequences (RefSeq)
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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
-
NG_000002.1
- Range
- 514106..525756 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001291715.2 → NP_001278644.1 melanoma antigen preferentially expressed in tumors isoform a
See identical proteins and their annotated locations for NP_001278644.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 2. Variants 1-7 encode the same isoform (a).
- Source sequence(s)
- AK129783, BC022008, DC395455
- Consensus CDS
- CCDS13801.1
- UniProtKB/Swiss-Prot
- B2R6Y7, O43481, P78395, Q8IXN8
- UniProtKB/TrEMBL
- K9MRS9, K9MSY5
- Conserved Domains (2) summary
-
- sd00034
Location:324 → 350 - LRR_AMN1; leucine-rich repeat [structural motif]
- cl39015
Location:323 → 436 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
-
NM_001291716.2 → NP_001278645.1 melanoma antigen preferentially expressed in tumors isoform a
See identical proteins and their annotated locations for NP_001278645.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 2. Variants 1-7 encode the same isoform (a).
- Source sequence(s)
- AK129783, BC022008, DC395455
- Consensus CDS
- CCDS13801.1
- UniProtKB/Swiss-Prot
- B2R6Y7, O43481, P78395, Q8IXN8
- UniProtKB/TrEMBL
- K9MRS9, K9MSY5
- Conserved Domains (2) summary
-
- sd00034
Location:324 → 350 - LRR_AMN1; leucine-rich repeat [structural motif]
- cl39015
Location:323 → 436 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
-
NM_001291717.2 → NP_001278646.1 melanoma antigen preferentially expressed in tumors isoform b
See identical proteins and their annotated locations for NP_001278646.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (8) differs in the 5' UTR, lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 2. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
- Source sequence(s)
- AK304593, BC022008, DB024053
- UniProtKB/TrEMBL
- B7ZAT0
- Conserved Domains (2) summary
-
- cd00116
Location:307 → 420 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
Location:308 → 334 - LRR_AMN1; leucine-rich repeat [structural motif]
- cd00116
-
NM_001291719.2 → NP_001278648.1 melanoma antigen preferentially expressed in tumors isoform b
See identical proteins and their annotated locations for NP_001278648.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (9) differs in the 5' UTR, lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 2. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 9-11 encode the same isoform (b).
- Source sequence(s)
- AK129783, BC022008, DC395455
- UniProtKB/TrEMBL
- B7ZAT0
- Conserved Domains (2) summary
-
- cd00116
Location:307 → 420 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
Location:308 → 334 - LRR_AMN1; leucine-rich repeat [structural motif]
- cd00116
-
NM_001318126.2 → NP_001305055.1 melanoma antigen preferentially expressed in tumors isoform b
Status: REVIEWED
- Description
- Transcript Variant: This variant (10) differs in the 5' UTR, lacks part of the 5' coding region, and uses a downstream start codon compared to variant 2. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 9-11 encode the same isoform (b).
- Source sequence(s)
- AK316395, BC022008
- UniProtKB/TrEMBL
- B7ZAT0
- Conserved Domains (2) summary
-
- cd00116
Location:307 → 420 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
Location:308 → 334 - LRR_AMN1; leucine-rich repeat [structural motif]
- cd00116
-
NM_001318127.2 → NP_001305056.1 melanoma antigen preferentially expressed in tumors isoform b
Status: REVIEWED
- Description
- Transcript Variant: This variant (11) differs in the 5' UTR, lacks part of the 5' coding region, and uses a downstream start codon compared to variant 2. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 9-11 encode the same isoform (b).
- Source sequence(s)
- AC246793, AK302188, BC022008
- UniProtKB/TrEMBL
- B7ZAT0
- Conserved Domains (2) summary
-
- cd00116
Location:307 → 420 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
Location:308 → 334 - LRR_AMN1; leucine-rich repeat [structural motif]
- cd00116
-
NM_006115.5 → NP_006106.1 melanoma antigen preferentially expressed in tumors isoform a
See identical proteins and their annotated locations for NP_006106.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. Variants 1-7 encode the same isoform (a).
- Source sequence(s)
- BC022008
- Consensus CDS
- CCDS13801.1
- UniProtKB/Swiss-Prot
- B2R6Y7, O43481, P78395, Q8IXN8
- UniProtKB/TrEMBL
- K9MRS9, K9MSY5
- Related
- ENSP00000381728.2, ENST00000398743.6
- Conserved Domains (2) summary
-
- sd00034
Location:324 → 350 - LRR_AMN1; leucine-rich repeat [structural motif]
- cl39015
Location:323 → 436 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
-
NM_206953.3 → NP_996836.1 melanoma antigen preferentially expressed in tumors isoform a
See identical proteins and their annotated locations for NP_996836.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (a). Variants 1-7 encode the same isoform.
- Source sequence(s)
- BC022008
- Consensus CDS
- CCDS13801.1
- UniProtKB/Swiss-Prot
- B2R6Y7, O43481, P78395, Q8IXN8
- UniProtKB/TrEMBL
- K9MRS9, K9MSY5
- Related
- ENSP00000445675.1, ENST00000543184.5
- Conserved Domains (2) summary
-
- sd00034
Location:324 → 350 - LRR_AMN1; leucine-rich repeat [structural motif]
- cl39015
Location:323 → 436 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
-
NM_206954.3 → NP_996837.1 melanoma antigen preferentially expressed in tumors isoform a
See identical proteins and their annotated locations for NP_996837.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 1-7 encode the same isoform (a).
- Source sequence(s)
- BC022008
- Consensus CDS
- CCDS13801.1
- UniProtKB/Swiss-Prot
- B2R6Y7, O43481, P78395, Q8IXN8
- UniProtKB/TrEMBL
- K9MRS9, K9MSY5
- Related
- ENSP00000385198.1, ENST00000402697.5
- Conserved Domains (2) summary
-
- sd00034
Location:324 → 350 - LRR_AMN1; leucine-rich repeat [structural motif]
- cl39015
Location:323 → 436 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
-
NM_206955.3 → NP_996838.1 melanoma antigen preferentially expressed in tumors isoform a
See identical proteins and their annotated locations for NP_996838.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 2. Variants 1-7 encode the same isoform (a).
- Source sequence(s)
- AK304593, BC022008, DB024053
- Consensus CDS
- CCDS13801.1
- UniProtKB/Swiss-Prot
- B2R6Y7, O43481, P78395, Q8IXN8
- UniProtKB/TrEMBL
- K9MRS9, K9MSY5
- Related
- ENSP00000381726.1, ENST00000398741.5
- Conserved Domains (2) summary
-
- sd00034
Location:324 → 350 - LRR_AMN1; leucine-rich repeat [structural motif]
- cl39015
Location:323 → 436 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
-
NM_206956.3 → NP_996839.1 melanoma antigen preferentially expressed in tumors isoform a
See identical proteins and their annotated locations for NP_996839.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 2. Variants 1-7 encode the same isoform (a).
- Source sequence(s)
- AK304593, BC022008, DB024053
- Consensus CDS
- CCDS13801.1
- UniProtKB/Swiss-Prot
- B2R6Y7, O43481, P78395, Q8IXN8
- UniProtKB/TrEMBL
- K9MRS9, K9MSY5
- Related
- ENSP00000384343.3, ENST00000405655.8
- Conserved Domains (2) summary
-
- sd00034
Location:324 → 350 - LRR_AMN1; leucine-rich repeat [structural motif]
- cl39015
Location:323 → 436 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08
The following sections contain reference sequences that belong to a specific genome build. Explain
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000022.11Reference GRCh38.p14 Primary Assembly
- Range
- 22547701..22559265 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_011530034.4 → XP_011528336.1 melanoma antigen preferentially expressed in tumors isoform X1
See identical proteins and their annotated locations for XP_011528336.1
- UniProtKB/TrEMBL
- B7ZAT0
- Conserved Domains (2) summary
-
- cd00116
Location:307 → 420 - LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
- sd00034
Location:308 → 334 - LRR_AMN1; leucine-rich repeat [structural motif]
- cd00116
Reference GRCh38.p14 ALT_REF_LOCI_1
Genomic
-
NT_187629.1Reference GRCh38.p14 ALT_REF_LOCI_1
- Range
- 183358..194922 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054329448.1 → XP_054185423.1 melanoma antigen preferentially expressed in tumors isoform X1
- UniProtKB/TrEMBL
- B7ZAT0
Alternate T2T-CHM13v2.0
Genomic
-
NC_060946.1Alternate T2T-CHM13v2.0
- Range
- 22970590..22982125 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054325361.1 → XP_054181336.1 melanoma antigen preferentially expressed in tumors isoform X1
- UniProtKB/TrEMBL
- B7ZAT0
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| Nucleotide | Protein | |
|---|---|---|
| Heading | Accession and Version | |
| Protein Accession | Links | |
|---|---|---|
| GenPept Link | UniProtKB Link | |
| P78395.1 | GenPept | UniProtKB/Swiss-Prot:P78395 |
Additional links
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Gene LinkOut
The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.
- Interologous Interaction Database
- MilliporeSigma
- Bgee database
- BioGPS
- BioGRID Open Repository of CRISPR Screens (ORCS)
- CTD: Comparative Toxicogenomics Database
- Domain Mapping of Disease Mutations
- Eukaryotic Promoter Database
- GlyGen glycoinformatics resource
- Human eFP Browser
- Ingenuity Pathways Analysis
- InnateDB
- InterMine
- Kyoto Encyclopedia of Genes and Genomes
- OMA Browser: Orthologous MAtrix
- OrthoDB catalog of orthologs
- PANTHER Classification System
- PhosphoSitePlus
- The Gene Wiki
- The Weizmann Institute of Science GeneCards and MalaCards databases
- Addgene Non-profit plasmid repository
- Bio-Techne
- Creative Biogene
- ExactAntigen/Labome
- GenScript latest version of gene cDNA ORF Clone
- GeneCopoeia Inc.
- GeneTex Inc
- Kazusa DNA Research Institute
- OriGene
![PRAME PRAME nuclear receptor transcriptional regulator [hom*o sapiens (human)] - Gene (2024)](data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAABCAQAAAC1HAwCAAAAC0lEQVR42mP8/h8AAvMB+NzmkbcAAAAASUVORK5CYII=)