DPYSL4 dihydropyrimidinase like 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DPYSL4provided by HGNC
Official Full Name: dihydropyrimidinase like 4provided by HGNC
Primary source: HGNC:HGNC:3016
See related: Ensembl:ENSG00000151640 MIM:608407; AllianceGenome:HGNC:3016
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
Also known as: CRMP3; DRP-4; ULIP4
Summary: Enables filamin binding activity. Predicted to be involved in nervous system development. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 6.6), heart (RPKM 2.6) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (132186948..132205759)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (133128313..133148570)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (134000452..134019263)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
Title: Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
DPYSL4 plays a key role in the tumor-suppressor function of p53 by regulating oxidative phosphorylation and the cellular energy supply via its association with mitochondrial supercomplexes, possibly linking to the pathophysiology of both cancer and obesity.
Title: p53-inducible DPYSL4 associates with mitochondrial supercomplexes and regulates energy metabolism in adipocytes and cancer cells.
DPYSL4 is a novel apoptosis-inducible factor controlled by p53 in response to DNA damage
Title: Identification of dihydropyrimidinase-related protein 4 as a novel target of the p53 tumor suppressor in the apoptotic response to DNA damage.
Aberrant expression of dihydropyrimidinase related proteins-2,-3 and -4 in fetal Down syndrome brain.
Title: Aberrant expression of dihydropyrimidinase related proteins-2,-3 and -4 in fetal Down syndrome brain.

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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

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
NOT enables dihydropyrimidinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables filamin binding	IPI Inferred from Physical Interaction more info	PubMed
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
NOT involved_in pyrimidine nucleobase catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dihydropyrimidinase-related protein 4

Names: CRMP-3; ULIP-4; UNC33-like phosphoprotein 4; collapsin response mediator protein 3

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_006426.3 → NP_006417.2 dihydropyrimidinase-related protein 4

See identical proteins and their annotated locations for NP_006417.2

Status: VALIDATED

Source sequence(s)

AL512622, BC029280, BC136329, BC142974

Consensus CDS

CCDS7665.1

UniProtKB/Swiss-Prot

B2RMQ1, D3DRG5, O00240, O14531, Q5T0Q7

Related

ENSP00000339850.3, ENST00000338492.9

Conserved Domains (1) summary

cd01314
Location:17 → 466

D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

132186948..132205759

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

133128313..133148570

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364500.1 → XP_054220475.1 dihydropyrimidinase-related protein 4 isoform X1
XM_054364498.1 → XP_054220473.1 dihydropyrimidinase-related protein 4 isoform X1
XM_054364499.1 → XP_054220474.1 dihydropyrimidinase-related protein 4 isoform X1