PAQR4 progestin and adipoQ receptor family member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAQR4provided by HGNC
Official Full Name: progestin and adipoQ receptor family member 4provided by HGNC
Primary source: HGNC:HGNC:26386
See related: Ensembl:ENSG00000162073 MIM:614578; AllianceGenome:HGNC:26386
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables molecular adaptor activity. Involved in protein stabilization and regulation of ceramide biosynthetic process. Located in Golgi membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in brain (RPKM 16.0), bone marrow (RPKM 6.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2969348..2973484)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2996027..3000163)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (3019349..3023485)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High PAQR4 mRNA Expression May Play a Key Role in Prognosis of Kidney Renal Papillary Cell Carcinoma.
Title: High PAQR4 mRNA Expression May Play a Key Role in Prognosis of Kidney Renal Papillary Cell Carcinoma.
VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4.
Title: VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4.
PAQR4 promotes the development of hepatocellular carcinoma by activating PI3K/AKT pathway.
Title: PAQR4 promotes the development of hepatocellular carcinoma by activating PI3K/AKT pathway.
Overexpressed PAQR4 predicts poor overall survival and construction of a prognostic nomogram based on PAQR family for hepatocellular carcinoma.
Title: Overexpressed PAQR4 predicts poor overall survival and construction of a prognostic nomogram based on PAQR family for hepatocellular carcinoma.
PAQR4 promotes chemoresistance in non-small cell lung cancer through inhibiting Nrf2 protein degradation.
Title: PAQR4 promotes chemoresistance in non-small cell lung cancer through inhibiting Nrf2 protein degradation.
Golgi-Localized PAQR4 Mediates Antiapoptotic Ceramidase Activity in Breast Cancer.
Title: Golgi-Localized PAQR4 Mediates Antiapoptotic Ceramidase Activity in Breast Cancer.
PAQR4 (Progestin and AdipoQ Receptor 4) expression is closely associated with progression of many cancers and microRNA (miRNA) processing.
Title: MicroRNA-370 inhibits the proliferation, invasion and EMT of gastric cancer cells by directly targeting PAQR4.
Data indicate that PAQR4 has a tumorigenic effect on human breast cancers, and such effect is associated with a modulatory activity of PAQR4 on protein degradation of CDK4
Title: PAQR4 has a tumorigenic effect in human breast cancers in association with reduced CDK4 degradation.

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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
A genome-wide association study of the metabolic syndrome in Indian Asian men. 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 molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: progestin and adipoQ receptor family member 4

Names: progestin and adipoQ receptor family member IV

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_001284511.2 → NP_001271440.1 progestin and adipoQ receptor family member 4 isoform 2

See identical proteins and their annotated locations for NP_001271440.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC004235, AK054564, AL832527

Consensus CDS

CCDS66911.1

UniProtKB/Swiss-Prot

Q8N4S7

Related

ENSP00000293978.8, ENST00000293978.12

Conserved Domains (1) summary

cl03831
Location:43 → 215

HlyIII; Haemolysin-III related
NM_001284512.2 → NP_001271441.1 progestin and adipoQ receptor family member 4 isoform 3

See identical proteins and their annotated locations for NP_001271441.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC004235, AK054564, AL832527

Consensus CDS

CCDS66912.1

UniProtKB/TrEMBL

I3L265

Related

ENSP00000459418.1, ENST00000572687.1

Conserved Domains (1) summary

cl03831
Location:57 → 180

HlyIII; Haemolysin-III related
NM_001284513.2 → NP_001271442.1 progestin and adipoQ receptor family member 4 isoform 4

See identical proteins and their annotated locations for NP_001271442.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.

Source sequence(s)

AL832527, BQ935501

Consensus CDS

CCDS73814.1

UniProtKB/TrEMBL

B4DI04, I3L1A2

Related

ENSP00000460326.1, ENST00000576565.1

Conserved Domains (1) summary

cl03831
Location:29 → 187

HlyIII; Haemolysin-III related
NM_001324118.2 → NP_001311047.1 progestin and adipoQ receptor family member 4 isoform 5

Status: VALIDATED

Source sequence(s)

AC004235

Conserved Domains (1) summary

cl03831
Location:43 → 162

HlyIII; Haemolysin-III related
NM_152341.5 → NP_689554.2 progestin and adipoQ receptor family member 4 isoform 1

See identical proteins and their annotated locations for NP_689554.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC004235, AL832527, BC033703

Consensus CDS

CCDS10485.1

UniProtKB/Swiss-Prot

A8K5Q8, D3DUA2, D3DUA3, Q8N4S7, Q8NAS6, Q96NW1

Related

ENSP00000321804.8, ENST00000318782.9

Conserved Domains (1) summary

cl03831
Location:43 → 254

HlyIII; Haemolysin-III related