PRAM1 PML-RARA regulated adaptor molecule 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRAM1provided by HGNC
Official Full Name: PML-RARA regulated adaptor molecule 1provided by HGNC
Primary source: HGNC:HGNC:30091
See related: Ensembl:ENSG00000133246 MIM:606466; AllianceGenome:HGNC:30091
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: PRAM-1; PML-RAR
Summary: The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 29.0), appendix (RPKM 3.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (8490056..8502640, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (8477638..8490223, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (8554940..8567524, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

NRF2 activation induced by PML-RARalpha promotes microRNA 125b-1 expression and confers resistance to chemotherapy in acute promyelocytic leukemia.
Title: NRF2 activation induced by PML-RARα promotes microRNA 125b-1 expression and confers resistance to chemotherapy in acute promyelocytic leukemia.
KDM5A suppresses PML-RARalpha target gene expression and APL differentiation through repressing H3K4me2.
Title: KDM5A suppresses PML-RARα target gene expression and APL differentiation through repressing H3K4me2.
we diagnosed a spinal promyelocytic sarcoma as a manifestation of acute promyelocytic leukaemia with M3 morphology according to the French-American-British classification with t(15;17)(q22;q21) and PML-RARA fusion gene
Title: Spinal promyelocytic sarcoma as the initial manifestation of acute promyelocytic leukaemia.
This study establishes PML as an important regulator of NF-kappaB and demonstrates that PML-RARalpha dysregulates NF-kappaB.
Title: Regulation of NF-κB by PML and PML-RARα.
Our results show that the pretreatment PML-RARA molecular burden could therefore be used to improve risk stratification in order to develop more individualized treatment regimens for high-risk APL cases.
Title: Absolute quantification of the pretreatment PML-RARA transcript defines the relapse risk in acute promyelocytic leukemia.
The 3-plex RT-qPCR assay is a specific, sensitive, stable, and cost-effective method that can be used for the rapid diagnosis and treatment monitoring of acute promyelocytic leukemia with PML-RARa
Title: Development and validation of a 3-Plex RT-qPCR assay for the simultaneous detection and quantitation of the three PML-RARa fusion transcripts in acute promyelocytic leukemia.
The MIR125B1-mediated blockade of PML-RARA proteolysis was regulated via an autophagy-lysosomal pathway, contributing to the inhibition of acute promyelocytic leukemia differentiation.
Title: MIR125B1 represses the degradation of the PML-RARA oncoprotein by an autophagy-lysosomal pathway in acute promyelocytic leukemia.
autophagy contributes to the anti-apoptotic function of the PML-RARalpha protein through inhibiting the Akt/mTOR pathway
Title: PML-RARα enhances constitutive autophagic activity through inhibiting the Akt/mTOR pathway.
We conclude that our sp-RQ-PCR is specific enough to identify various forms of PML-RARalpha and yields no false-positive results.
Title: Quantitative detection of PML-RARalpha fusion transcript by real-time PCR with a single primer pair.
hidden abnormalities and novel disease-related genomic changes occur in t(15;17)translocation in acute promyelocytic leukemia formation of PML-RARA gene
Title: Hidden abnormalities and novel classification of t(15;17) acute promyelocytic leukemia (APL) based on genomic alterations.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neutrophil degranulation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: PML-RARA-regulated adapter molecule 1

Names: PML-RARA target gene encoding an Adaptor Molecule-1; PRAM

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.

mRNA and Protein(s)

NM_032152.5 → NP_115528.4 PML-RARA-regulated adapter molecule 1

See identical proteins and their annotated locations for NP_115528.4

Status: REVIEWED

Source sequence(s)

AC092298, AJ272324, AK308227, BC028012, DA350460

Consensus CDS

CCDS45954.2

UniProtKB/Swiss-Prot

Q8N6W7, Q96QH2

Related

ENSP00000408342.2, ENST00000423345.5

Conserved Domains (2) summary

pfam14603
Location:577 → 655

hSH3; Helically-extended SH3 domain

cl26464
Location:56 → 412

Atrophin-1; Atrophin-1 family

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

8490056..8502640 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005272502.3 → XP_005272559.1 PML-RARA-regulated adapter molecule 1 isoform X2

Conserved Domains (1) summary

pfam14603
Location:582 → 655

hSH3; Helically-extended SH3 domain
XM_011528353.3 → XP_011526655.1 PML-RARA-regulated adapter molecule 1 isoform X3

Conserved Domains (1) summary

pfam14603
Location:584 → 665

hSH3; Helically-extended SH3 domain
XM_011528352.3 → XP_011526654.1 PML-RARA-regulated adapter molecule 1 isoform X1

Conserved Domains (1) summary

pfam14603
Location:584 → 657

hSH3; Helically-extended SH3 domain

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

8477638..8490223 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322311.1 → XP_054178286.1 PML-RARA-regulated adapter molecule 1 isoform X2
XM_054322312.1 → XP_054178287.1 PML-RARA-regulated adapter molecule 1 isoform X3
XM_054322310.1 → XP_054178285.1 PML-RARA-regulated adapter molecule 1 isoform X1