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

Gene ID: 758, updated on 2-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
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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 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ50009, FLJ54633, FLJ59965, FLJ78907, MGC88045

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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