DESI1 desumoylating isopeptidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DESI1provided by HGNC
Official Full Name: desumoylating isopeptidase 1provided by HGNC
Primary source: HGNC:HGNC:24577
See related: Ensembl:ENSG00000100418 MIM:614637; AllianceGenome:HGNC:24577
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: POST; DESI2; DeSI-1; PPPDE2; FAM152B; D15Wsu75e; DJ347H13.4
Summary: Enables importin-alpha family protein binding activity. Involved in protein export from nucleus and regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytosol. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 7.4), esophagus (RPKM 4.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41598028..41621043, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42076960..42099973, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41994032..42017047, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

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

D22S677 (e-PCR)
- UniSTS:51731

WI-15475 (e-PCR)
- UniSTS:76849

D8S2279 (e-PCR)
- UniSTS:473907

D22S276 (e-PCR), detects polymorphism
- UniSTS:28734

NoName (e-PCR)
- UniSTS:484457

D10S16 (e-PCR)
- UniSTS:155756

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-813 (e-PCR)
- UniSTS:45989

SHGC-152669 (e-PCR)
- UniSTS:177573

G20634 (e-PCR)
- UniSTS:47808

A005Z41 (e-PCR)
- UniSTS:47809

GDB:631813 (e-PCR)
- UniSTS:158430

HUM0S11D04 (e-PCR)
- UniSTS:31469

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables deSUMOylase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables importin-alpha family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables long-chain fatty acyl-CoA hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables palmitoyl-(protein) hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in macromolecule depalmitoylation	IEA Inferred from Electronic Annotation more info
involved_in protein desumoylation	IEA Inferred from Electronic Annotation more info
involved_in protein export from nucleus	IPI Inferred from Physical Interaction more info	PubMed
involved_in protein modification by small protein removal	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: desumoylating isopeptidase 1

Names: PPPDE peptidase domain containing 2; PPPDE peptidase domain-containing protein 2; desumoylating isopeptidase 2; family with sequence similarity 152, member B; polyubiquitinated substrate transporter

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.