PRAME PRAME nuclear receptor transcriptional regulator [Homo sapiens (human)] - Gene

Summary

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: 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: all
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Genomic context

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 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRAME expression in fibrosarcomatous dermatofibrosarcoma protuberans.
Title: PRAME expression in fibrosarcomatous dermatofibrosarcoma protuberans.
Characterization of PRAME immunohistochemistry reveals lower expression in pediatric melanoma compared to adult melanoma.
Title: Characterization of PRAME immunohistochemistry reveals lower expression in pediatric melanoma compared to adult melanoma.
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.

Submit: New GeneRIF Correction See all GeneRIFs (125)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48178 (e-PCR)
- UniSTS:37128

RH70693 (e-PCR)
- UniSTS:4143

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear retinoic acid receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of retinoic acid receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul2-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul2-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

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 ...
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 ...
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]
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]
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]
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]
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 ...
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 ...
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 ...
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 ...
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 ...

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_000022.11 Reference 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]