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PRAME preferentially expressed antigen in melanoma [ Homo sapiens (human) ]

Gene ID: 23532, updated on 12-Oct-2019

Summary

Official Symbol
PRAMEprovided by HGNC
Official Full Name
preferentially expressed antigen in melanomaprovided by HGNC
Primary source
HGNC:HGNC:9336
See related
Ensembl:ENSG00000185686 MIM:606021
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
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

Genomic context

See PRAME in Genome Data Viewer
Location:
22q11.22
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (22547696..22559361, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22890123..22901696, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene uncharacterized LOC648691 Neighboring gene zinc finger protein 280B Neighboring gene IGL region enhancer-blocking element 22-2 Neighboring gene zinc finger protein 280A Neighboring gene immunoglobulin lambda variable 2-34 (pseudogene) Neighboring gene immunoglobulin lambda variable 2-33 (non-functional)

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
retinoic acid receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinoic acid receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of retinoic acid receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
melanoma antigen preferentially expressed in tumors
Names
Opa-interacting protein OIP4
cancer/testis antigen 130
opa-interacting protein 4
preferentially expressed antigen of melanoma

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_000002.1 

    Range
    514106..525756 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291715.2NP_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
    P78395
    UniProtKB/TrEMBL
    A0A024R1E6
    Conserved Domains (2) summary
    sd00034
    Location:324350
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl26161
    Location:323436
    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 ...
  2. NM_001291716.2NP_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
    P78395
    UniProtKB/TrEMBL
    A0A024R1E6
    Conserved Domains (2) summary
    sd00034
    Location:324350
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl26161
    Location:323436
    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 ...
  3. NM_001291717.2NP_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/Swiss-Prot
    P78395
    UniProtKB/TrEMBL
    B7Z986
    Conserved Domains (2) summary
    cd00116
    Location:307420
    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:308334
    LRR_AMN1; leucine-rich repeat [structural motif]
  4. NM_001291719.2NP_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/Swiss-Prot
    P78395
    Conserved Domains (2) summary
    cd00116
    Location:307420
    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:308334
    LRR_AMN1; leucine-rich repeat [structural motif]
  5. NM_001318126.1NP_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)
    AI613210, AK316395, BC022008
    UniProtKB/Swiss-Prot
    P78395
    UniProtKB/TrEMBL
    B7ZAT0
    Conserved Domains (2) summary
    cd00116
    Location:307420
    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:308334
    LRR_AMN1; leucine-rich repeat [structural motif]
  6. NM_001318127.1NP_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, AI613210, AK302188, BC022008
    UniProtKB/Swiss-Prot
    P78395
    UniProtKB/TrEMBL
    B7Z7K8
    Conserved Domains (2) summary
    cd00116
    Location:307420
    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:308334
    LRR_AMN1; leucine-rich repeat [structural motif]
  7. NM_006115.5NP_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
    P78395
    UniProtKB/TrEMBL
    A0A024R1E6
    Related
    ENSP00000381728.2, ENST00000398743.6
    Conserved Domains (2) summary
    sd00034
    Location:324350
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl26161
    Location:323436
    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 ...
  8. NM_206953.2NP_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)
    AI613210, BC022008
    Consensus CDS
    CCDS13801.1
    UniProtKB/Swiss-Prot
    P78395
    UniProtKB/TrEMBL
    A0A024R1E6
    Related
    ENSP00000445675.1, ENST00000543184.5
    Conserved Domains (2) summary
    sd00034
    Location:324350
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl26161
    Location:323436
    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 ...
  9. NM_206954.3NP_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
    P78395
    UniProtKB/TrEMBL
    A0A024R1E6
    Related
    ENSP00000385198.1, ENST00000402697.5
    Conserved Domains (2) summary
    sd00034
    Location:324350
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl26161
    Location:323436
    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 ...
  10. NM_206955.2NP_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)
    AI613210, AK304593, BC022008, DB024053
    Consensus CDS
    CCDS13801.1
    UniProtKB/Swiss-Prot
    P78395
    UniProtKB/TrEMBL
    A0A024R1E6, B7Z986
    Related
    ENSP00000381726.1, ENST00000398741.5
    Conserved Domains (2) summary
    sd00034
    Location:324350
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl26161
    Location:323436
    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 ...
  11. NM_206956.3NP_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
    P78395
    UniProtKB/TrEMBL
    A0A024R1E6, B7Z986
    Related
    ENSP00000384343.3, ENST00000405655.8
    Conserved Domains (2) summary
    sd00034
    Location:324350
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl26161
    Location:323436
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    22547696..22559361 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530034.3XP_011528336.1  melanoma antigen preferentially expressed in tumors isoform X1

    See identical proteins and their annotated locations for XP_011528336.1

    Conserved Domains (2) summary
    cd00116
    Location:307420
    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:308334
    LRR_AMN1; leucine-rich repeat [structural motif]

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187629.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    183353..195018 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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