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    MPPED1 metallophosphoesterase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 758, updated on 26-Nov-2024

    Summary

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    Official Symbol
    MPPED1provided by HGNC
    Official Full Name
    metallophosphoesterase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:1306
    See related
    Ensembl:ENSG00000186732 MIM:602112; AllianceGenome:HGNC:1306
    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
    239AB; FAM1A; C22orf1
    Summary
    Predicted to enable hydrolase activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 6.2) and liver (RPKM 1.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See MPPED1 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (43412014..43507848)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43893098..43990288)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43808020..43903728)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43784068-43784646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43784647-43785225 Neighboring gene long intergenic non-protein coding RNA 1639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43823805-43824306 Neighboring gene MPRA-validated peak4505 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43860857-43861358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43883837-43884610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43883063-43883836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43910482-43911240 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43923573-43924072 Neighboring gene EFCAB6 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr22:43932755-43933256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43938541-43939320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43939321-43940098 Neighboring gene EF-hand calcium binding domain 6 Neighboring gene uncharacterized LOC101927474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43966769-43967269

    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
    • 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. cDNA sequence, genomic organization, and evolutionary conservation of a novel gene from the WAGR region. Schwartz F, et al. Genomics, 1995 Sep 20. PMID 8666403
    2. The 239AB gene on chromosome 22: a novel member of an ancient gene family. Schwartz F, et al. Gene, 1997 Jul 18. PMID 9266672
    3. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. Long P, et al. Eur J Neurosci, 2012 Sep. PMID 22779921
    4. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. Bailey ML, et al. Genetics, 2015 Nov. PMID 26354767, Free PMC Article
    5. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. Camargo LM, et al. Mol Psychiatry, 2007 Jan. PMID 17043677

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    metallophosphoesterase domain-containing protein 1
    Names
    adult brain protein 239

    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_001044370.2 → NP_001037835.1  metallophosphoesterase domain-containing protein 1 precursor

      See identical proteins and their annotated locations for NP_001037835.1

      Status: VALIDATED

      Source sequence(s)
      BC028035, BX546033, DA773758, U84894
      Consensus CDS
      CCDS46723.1
      UniProtKB/Swiss-Prot
      A8K159, B7Z2S9, O15442, Q8N361
      UniProtKB/TrEMBL
      B7Z9P3
      Related
      ENSP00000400686.1, ENST00000443721.2
      Conserved Domains (1) summary
      cd07379
      Location:91 → 303
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    2. NM_001362786.2 → NP_001349715.1  metallophosphoesterase domain-containing protein 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AK294912, BC028035, BI915267, BX546033, FP325334
      Consensus CDS
      CCDS46723.1
      UniProtKB/Swiss-Prot
      A8K159, B7Z2S9, O15442, Q8N361
      UniProtKB/TrEMBL
      B7Z9P3
      Conserved Domains (1) summary
      cd07379
      Location:91 → 303
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      43412014..43507848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      43893098..43990288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15442.3 GenPept UniProtKB/Swiss-Prot:O15442

    Gene LinkOut

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

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