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MINDY1 MINDY lysine 48 deubiquitinase 1 [ Homo sapiens (human) ]

Gene ID: 55793, updated on 10-Oct-2019

Summary

Official Symbol
MINDY1provided by HGNC
Official Full Name
MINDY lysine 48 deubiquitinase 1provided by HGNC
Primary source
HGNC:HGNC:25648
See related
Ensembl:ENSG00000143409 MIM:618407
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
FAM63A; MINDY-1
Expression
Ubiquitous expression in thyroid (RPKM 17.7), testis (RPKM 8.4) and 25 other tissues See more
Orthologs

Genomic context

See MINDY1 in Genome Data Viewer
Location:
1q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150996536..151008393, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150969213..150980854, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371438 Neighboring gene annexin A9 Neighboring gene prune exopolyphosphatase 1 Neighboring gene RNA, U6 small nuclear 884, pseudogene Neighboring gene BCL2 interacting protein like

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11280, FLJ43504

Gene Ontology Provided by GOA

Function Evidence Code Pubs
K48-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Lys48-specific deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Lys48-specific deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type carboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type carboxypeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
protein K48-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ubiquitin carboxyl-terminal hydrolase MINDY-1
Names
MINDY deubiquitinase 1
MIU-containing novel DUB family member 1
deubiquitinating enzyme MINDY-1
family with sequence similarity 63 member A
motif interacting with Ub-containing novel DUB
protein FAM63A
NP_001035307.2
NP_001156730.2
NP_001156731.1
NP_001156732.1
NP_001306927.2
NP_060849.3
XP_005245378.1
XP_005245382.1
XP_005245384.1
XP_005245385.1
XP_011508059.1
XP_011508061.1
XP_016857259.1
XP_016857260.1
XP_016857261.1
XP_016857262.1
XP_016857263.1
XP_016857264.1
XP_016857265.1
XP_016857266.1
XP_024304108.1

NCBI Reference Sequences (RefSeq)

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_001040217.3NP_001035307.2  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses an alternate splice site in the 5' coding region, and uses a downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 5 encode the same isoform.
    Source sequence(s)
    AL590133
    Consensus CDS
    CCDS30854.1
    Related
    ENSP00000310923.5, ENST00000312210.9
  2. NM_001163258.2NP_001156730.2  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' splice pattern and an upstream start codon, compared to variant 1. The resulting isoform (3) has a longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AL590133
    Consensus CDS
    CCDS53361.1
    Related
    ENSP00000354669.6, ENST00000361738.10
  3. NM_001163259.1NP_001156731.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 4

    See identical proteins and their annotated locations for NP_001156731.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region and a downstream start codon, compared to variant 1. The promoter and extent of the 5' UTR for this variant have not been characterized. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK303962, AW072847, BC032321, DA292825
    Consensus CDS
    CCDS55635.1
    UniProtKB/Swiss-Prot
    Q8N5J2
    Related
    ENSP00000437174.2, ENST00000493834.2
    Conserved Domains (1) summary
    pfam04424
    Location:49166
    DUF544; Protein of unknown function (DUF544)
  4. NM_001163260.1NP_001156732.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 2

    See identical proteins and their annotated locations for NP_001156732.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region and a downstream start codon, compared to variant 1. The promoter and extent of the 5' UTR for this variant have not been characterized. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 5 encode the same isoform.
    Source sequence(s)
    AK002142, AK125493, AW072847, DA292825
    Consensus CDS
    CCDS30854.1
    UniProtKB/Swiss-Prot
    Q8N5J2
    UniProtKB/TrEMBL
    D3DV11
    Conserved Domains (1) summary
    pfam04424
    Location:2119
    DUF544; Protein of unknown function (DUF544)
  5. NM_001319998.2NP_001306927.2  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1 and 6 encode the same isoform (1).
    Source sequence(s)
    AL590133
    Consensus CDS
    CCDS976.1
  6. NM_018379.5NP_060849.3  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1 and 6 encode the same isoform (1).
    Source sequence(s)
    AL590133
    Consensus CDS
    CCDS976.1
    Related
    ENSP00000354814.5, ENST00000361936.9

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    150996536..151008393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001772.2XP_016857261.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X3

    UniProtKB/Swiss-Prot
    Q8N5J2
    Related
    ENSP00000481304.1, ENST00000622754.4
    Conserved Domains (1) summary
    pfam04424
    Location:144261
    DUF544; Protein of unknown function (DUF544)
  2. XM_005245327.4XP_005245384.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X9

    Conserved Domains (1) summary
    pfam04424
    Location:196
    DUF544; Protein of unknown function (DUF544)
  3. XM_005245328.4XP_005245385.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X10

    Conserved Domains (1) summary
    pfam04424
    Location:195
    DUF544; Protein of unknown function (DUF544)
  4. XM_005245325.4XP_005245382.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X8

    Conserved Domains (1) summary
    pfam04424
    Location:2120
    DUF544; Protein of unknown function (DUF544)
  5. XM_011509759.3XP_011508061.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X6

    Conserved Domains (1) summary
    pfam04424
    Location:144208
    DUF544; Protein of unknown function (DUF544)
  6. XM_017001775.2XP_016857264.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X6

    Conserved Domains (1) summary
    pfam04424
    Location:144208
    DUF544; Protein of unknown function (DUF544)
  7. XM_005245321.4XP_005245378.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X2

    See identical proteins and their annotated locations for XP_005245378.1

    Conserved Domains (1) summary
    pfam04424
    Location:144262
    DUF544; Protein of unknown function (DUF544)
  8. XM_017001777.1XP_016857266.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X12

    UniProtKB/Swiss-Prot
    Q8N5J2
  9. XM_024448340.1XP_024304108.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X11

    Conserved Domains (1) summary
    pfam04424
    Location:195
    DUF544; Protein of unknown function (DUF544)
  10. XM_017001774.2XP_016857263.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X5

  11. XM_017001776.2XP_016857265.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X7

  12. XM_017001773.2XP_016857262.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X5

  13. XM_011509757.3XP_011508059.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X4

    Conserved Domains (1) summary
    pfam04424
    Location:144262
    DUF544; Protein of unknown function (DUF544)
  14. XM_017001771.2XP_016857260.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X1

  15. XM_017001770.2XP_016857259.1  ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform X1

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