MINDY4 MINDY lysine 48 deubiquitinase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MINDY4provided by HGNC
Official Full Name: MINDY lysine 48 deubiquitinase 4provided by HGNC
Primary source: HGNC:HGNC:21916
See related: Ensembl:ENSG00000106125 AllianceGenome:HGNC:21916
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: AQP1; AQP-1; CHIP28; C7orf67; FAM188B
Summary: Predicted to enable Lys48-specific deubiquitinase activity. Predicted to be involved in protein K48-linked deubiquitination. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 8.1), lung (RPKM 5.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (30771417..30892387)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (30909066..31030035)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (30811033..30932002)

Chromosome 7 - NC_000007.14 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 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?

FAM188B is a putative oncogene that functions via interaction with USP7.
Title: FAM188B enhances cell survival via interaction with USP7.
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

EBI GWAS Catalog

Description
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. 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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Markers

D7S632 (e-PCR)
- UniSTS:148994

D7S632 (e-PCR)
- UniSTS:80405

D7S2491 (e-PCR), detects polymorphism
- UniSTS:37957

GDB:1317454 (e-PCR)
- UniSTS:79699

D7S632 (e-PCR)
- UniSTS:18265

GDB:443790 (e-PCR)
- UniSTS:30100

D7S1863 (e-PCR)
- UniSTS:27295

SHGC-150611 (e-PCR)
- UniSTS:173228

D7S632 (e-PCR)
- UniSTS:20715

Readthrough INMT-MINDY4

Readthrough gene: INMT-MINDY4, Included gene: INMT

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K48-linked deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein K48-linked deubiquitination	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: probable ubiquitin carboxyl-terminal hydrolase MINDY-4

Names: Aquaporin-1; Aquaporin-CHIP; MINDY deubiquitinase 4; Urine water channel; Water channel protein for red blood cells and kidney proximal tubule; family with sequence similarity 188 member B; probable deubiquitinating enzyme MINDY-4; probable ubiquitin carboxyl-terminal hydrolase FAM188B; protein FAM188B

NP_115598.2

EC 3.4.19.12

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.