DPYSL5 dihydropyrimidinase like 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DPYSL5provided by HGNC
Official Full Name: dihydropyrimidinase like 5provided by HGNC
Primary source: HGNC:HGNC:20637
See related: Ensembl:ENSG00000157851 MIM:608383; AllianceGenome:HGNC:20637
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: CV2; CRAM; CRMP5; RTSC4; Ulip6; CRMP-5
Summary: This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
Expression: Biased expression in brain (RPKM 10.7), testis (RPKM 2.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (26847995..26950351)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (26889614..26992026)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (27070863..27173219)

Chromosome 2 - NC_000002.12 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 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?

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Title: Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
High CRMP5 expression is associated with prostate cancer.
Title: miR-214-5p inhibits human prostate cancer proliferation and migration through regulating CRMP5.
Study describes the relevance of DRP5 during osteosarcoma development. DRP5 was upregulated in osteosarcoma specimens and cell lines and shown to function via the downstream MMPs. Inhibition of DRP5 suppressed the growth of cancer cells in vitro and in vivo, and high expression levels of DRP5 were associated with poor prognosis in osteosarcoma patients.
Title: DRP5 is involved in cancer cell growth and predicts poor prognosis in human osteosarcoma.
Our findings suggest that CRMP5 serves as a major mediator of Notch signaling and Akt activation by controlling the degradation of the Notch receptor, with implications for defining a biomarker signature in glioblastoma
Title: CRMP5 Controls Glioblastoma Cell Proliferation and Survival through Notch-Dependent Signaling.
present study suggested that CRAM could be a clinical prognostic marker for patients with cervical cancer
Title: High expression of CRAM correlates with poor prognosis in patients with cervical carcinoma.
study elucidates a novel regulatory mechanism that utilizes CRMP5-induced mitophagy to orchestrate proper dendrite outgrowth and neuronal function.
Title: Collapsin response mediator protein 5 (CRMP5) induces mitophagy, thereby regulating mitochondrion numbers in dendrites.
identified residues that are crucial for determining the preference for hetero-oligomer or homo-oligomer formation. In spite of being the CRMP family member most closely related to dihydropyrimidinase, CRMP-5 does not have amidohydrolase activity.
Title: Insights into the oligomerization of CRMPs: crystal structure of human collapsin response mediator protein 5.
New CRMP5 isoform present in the nucleus is associated with Glioma.
Title: Identification of a new CRMP5 isoform present in the nucleus of cancer cells and enhancing their proliferation.
patients with CV2/CRMP5-Ab and thymoma developed myasthenic syndrome more frequently
Title: Onco-neural antibodies and tumour type determine survival and neurological symptoms in paraneoplastic neurological syndromes with Hu or CV2/CRMP5 antibodies.
findings point at CRMP5 as a novel marker for distinguishing between highly aggressive neuroendocrine carcinoma and the other lung cancers.
Title: Extensive expression of collapsin response mediator protein 5 (CRMP5) is a specific marker of high-grade lung neuroendocrine carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Associated conditions

Description	Tests
Ritscher-Schinzel syndrome 4 MedGen: C5561939 OMIM: 619435 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of dihydropyrimidinase-like 5 (DPYSL5) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

IB426 (e-PCR)
- UniSTS:12852

L18426 (e-PCR)
- UniSTS:34648

D11S3114 (e-PCR)
- UniSTS:152207

T03602 (e-PCR)
- UniSTS:22971

WI-18667 (e-PCR)
- UniSTS:46798

RH12657 (e-PCR)
- UniSTS:51673

D2S1722E (e-PCR)
- UniSTS:150751

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables dihydropyrimidinase activity	IBA Inferred from Biological aspect of Ancestor more info
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 axon guidance	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of dendrite morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

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
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dihydropyrimidinase-related protein 5

Names: CRMP3-associated molecule; DRP-5; ULIP-6; UNC33-like phosphoprotein 6; collapsin response mediator protein-5

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_001253723.2 → NP_001240652.1 dihydropyrimidinase-related protein 5

See identical proteins and their annotated locations for NP_001240652.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC011740, AC013472, AW139156, BC002874

Consensus CDS

CCDS1730.1

UniProtKB/Swiss-Prot

Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9

UniProtKB/TrEMBL

Q53SW3

Related

ENSP00000385549.1, ENST00000401478.5

Conserved Domains (1) summary

cd01314
Location:10 → 459

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 ...
NM_001253724.2 → NP_001240653.1 dihydropyrimidinase-related protein 5

See identical proteins and their annotated locations for NP_001240653.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC011740, AC013472, AL713706, AW139156, DA410946

Consensus CDS

CCDS1730.1

UniProtKB/Swiss-Prot

Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9

UniProtKB/TrEMBL

Q53SW3

Related

ENSP00000481305.1, ENST00000614712.4

Conserved Domains (1) summary

cd01314
Location:10 → 459

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 ...
NM_020134.4 → NP_064519.2 dihydropyrimidinase-related protein 5

See identical proteins and their annotated locations for NP_064519.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC013472, AF264015, AW139156

Consensus CDS

CCDS1730.1

UniProtKB/Swiss-Prot

Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9

UniProtKB/TrEMBL

Q53SW3

Related

ENSP00000288699.6, ENST00000288699.11

Conserved Domains (1) summary

cd01314
Location:10 → 459

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

26847995..26950351

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024453007.2 → XP_024308775.1 dihydropyrimidinase-related protein 5 isoform X1

UniProtKB/Swiss-Prot

Q8TCL6, Q9BPU6, Q9NQC4, Q9NRY9

UniProtKB/TrEMBL

Q53SW3

Conserved Domains (1) summary

cd01314
Location:10 → 459

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 ...