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    MPND MPN domain containing [ Homo sapiens (human) ]

    Gene ID: 84954, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MPNDprovided by HGNC
    Official Full Name
    MPN domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:25934
    See related
    Ensembl:ENSG00000008382 AllianceGenome:HGNC:25934
    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
    Summary
    Predicted to enable metallopeptidase activity and polyubiquitin modification-dependent protein binding activity. Predicted to be involved in double-strand break repair. Predicted to be part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon (RPKM 12.4), duodenum (RPKM 11.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPND in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4343562..4360078)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4327019..4343527)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4343559..4360075)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9884 Neighboring gene fibronectin type III and SPRY domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4326526-4327507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9885 Neighboring gene signal transducing adaptor family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13767 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4342611-4343342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4350305-4350806 Neighboring gene eukaryotic translation initiation factor 1 pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4365919-4366840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4368989-4369938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4369939-4370886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4372431-4373164 Neighboring gene SH3 domain containing GRB2 like 1, endophilin A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4373165-4373898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:4374633-4375365 and GRCh37_chr19:4375366-4376099 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4377567-4378299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13773 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:4386482-4386982 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4389401-4390008 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4390009-4390615 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4390616-4391224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4394991-4395501 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4399905-4400734 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4402397-4403094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4403095-4403790 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4408505-4409316 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4409317-4410128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4412803-4413801 Neighboring gene chromatin assembly factor 1 subunit A Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:4430727-4431490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4436676-4437176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4437177-4437677 Neighboring gene Sharpr-MPRA regulatory region 9621 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:4444373-4444541 Neighboring gene microRNA 4746 Neighboring gene UBX domain protein 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The UAS thioredoxin-like domain of UBXN7 regulates E3 ubiquitin ligase activity of RNF111/Arkadia. Amhaz S, et al. BMC Biol, 2023 Apr 7. PMID 37024974, Free PMC Article
    2. Mapping the interactome of HPV E6 and E7 oncoproteins with the ubiquitin-proteasome system. Poirson J, et al. FEBS J, 2017 Oct. PMID 28786561
    3. Transcription factor protein interactomes reveal genetic determinants in heart disease. Gonzalez-Teran B, et al. Cell, 2022 Mar 3. PMID 35182466, Free PMC Article
    4. Protein interactome reveals converging molecular pathways among autism disorders. Sakai Y, et al. Sci Transl Med, 2011 Jun 8. PMID 21653829, Free PMC Article
    5. Defining the human deubiquitinating enzyme interaction landscape. Sowa ME, et al. Cell, 2009 Jul 23. PMID 19615732, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ14981

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal-dependent deubiquitinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metallopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables polyubiquitin modification-dependent protein binding 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 double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BRCA1-A complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BRISC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    MPN domain-containing protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001159846.3 → NP_001153318.1  MPN domain-containing protein isoform 2

      See identical proteins and their annotated locations for NP_001153318.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two consecutive alternate exons in the 3' coding region, compared to variant 3. It encodes isoform 2, which lacks an internal in-frame segment and is shorter, compared to isoform 3.
      Source sequence(s)
      AC007292
      Consensus CDS
      CCDS54200.1
      UniProtKB/TrEMBL
      M0R0F2
      Related
      ENSP00000353015.3, ENST00000359935.8
      Conserved Domains (2) summary
      pfam18755
      Location:72 → 167
      RAMA; Restriction Enzyme Adenine Methylase Associated
      cl13996
      Location:266 → 400
      MPN; Mpr1p, Pad1p N-terminal (MPN) domains

    2. NM_001300862.2 → NP_001287791.1  MPN domain-containing protein isoform 3

      See identical proteins and their annotated locations for NP_001287791.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC007292
      Consensus CDS
      CCDS74261.1
      UniProtKB/TrEMBL
      M0R0F2, W4VSR2
      Related
      ENSP00000471735.1, ENST00000599840.6
      Conserved Domains (1) summary
      cd08067
      Location:266 → 450
      MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase

    3. NM_032868.6 → NP_116257.2  MPN domain-containing protein isoform 1

      See identical proteins and their annotated locations for NP_116257.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. It encodes isoform 1, which lacks an internal segment and is shorter, compared to isoform 3.
      Source sequence(s)
      AC007292
      Consensus CDS
      CCDS42470.1
      UniProtKB/Swiss-Prot
      Q8N594, Q96SJ0, Q9Y2P1, Q9Y2P2
      UniProtKB/TrEMBL
      M0R189
      Related
      ENSP00000262966.7, ENST00000262966.12
      Conserved Domains (1) summary
      cd08067
      Location:266 → 443
      MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase

    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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4343562..4360078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722926.3 → XP_006722989.1  MPN domain-containing protein isoform X1

      UniProtKB/TrEMBL
      M0R0F2
      Related
      ENSP00000471189.1, ENST00000597036.5
      Conserved Domains (1) summary
      cd08067
      Location:266 → 421
      MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4327019..4343527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322440.1 → XP_054178415.1  MPN domain-containing protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N594.1 GenPept UniProtKB/Swiss-Prot:Q8N594

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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