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

Gene ID: 84182, updated on 8-Nov-2022

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
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Genomic context

See MINDY4 in Genome Data Viewer
Location:
7p14.3
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30771417..30892387)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30909066..31030035)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30811033..30932002)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375220 Neighboring gene uncharacterized LOC105375219 Neighboring gene INMT-MINDY4 readthrough (NMD candidate) Neighboring gene Sharpr-MPRA regulatory region 4 Neighboring gene indolethylamine N-methyltransferase Neighboring gene oxysterol binding protein like 9 pseudogene 6 Neighboring gene aquaporin 1 (Colton blood group) Neighboring gene growth hormone releasing hormone receptor

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: AQP1

Readthrough INMT-MINDY4

Readthrough gene: INMT-MINDY4, Included gene: INMT

Homology

Clone Names

  • FLJ22374, FLJ51453, MGC44277

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables K48-linked deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

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

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)

  1. NM_032222.3NP_115598.2  probable ubiquitin carboxyl-terminal hydrolase MINDY-4

    See identical proteins and their annotated locations for NP_115598.2

    Status: VALIDATED

    Source sequence(s)
    AC004691, AK026027, BC098569, DA868176
    Consensus CDS
    CCDS43565.1
    UniProtKB/Swiss-Prot
    Q4G0A6, Q9H6D2
    Related
    ENSP00000265299.6, ENST00000265299.6
    Conserved Domains (1) summary
    pfam13898
    Location:416752
    DUF4205; Domain of unknown function (DUF4205)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    30771417..30892387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    30909066..31030035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)