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    ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 [ Homo sapiens (human) ]

    Gene ID: 59084, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ENPP5provided by HGNC
    Official Full Name
    ectonucleotide pyrophosphatase/phosphodiesterase family member 5provided by HGNC
    Primary source
    HGNC:HGNC:13717
    See related
    Ensembl:ENSG00000112796 MIM:617001; AllianceGenome:HGNC:13717
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NPP5; NPP-5
    Summary
    This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]
    Expression
    Biased expression in thyroid (RPKM 24.6), testis (RPKM 20.9) and 13 other tissues See more
    Orthologs
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    Genomic context

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    See ENPP5 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (46159185..46170980, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (45994273..46006158, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46126922..46138717, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 5 Neighboring gene RNA, U6 small nuclear 754, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17269 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 4 Neighboring gene uncharacterized LOC105375079 Neighboring gene actin gamma 1 pseudogene 9 Neighboring gene regulator of calcineurin 2

    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. New oncogenic functions of LINE1 retroelement as a ceRNA for tumor suppressive microRNA miR-126 on ENPP5. Lee KH, et al. PLoS One, 2023. PMID 37352273, Free PMC Article
    2. A key tyrosine substitution restricts nucleotide hydrolysis by the ectoenzyme NPP5. Gorelik A, et al. FEBS J, 2017 Nov. PMID 28898552
    3. Structural and catalytic similarities between nucleotide pyrophosphatases/phosphodiesterases and alkaline phosphatases. Gijsbers R, et al. J Biol Chem, 2001 Jan 12. PMID 11027689
    4. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New oncogenic functions of LINE1 retroelement as a ceRNA for tumor suppressive microRNA miR-126 on ENPP5.
      Title: New oncogenic functions of LINE1 retroelement as a ceRNA for tumor suppressive microRNA miR-126 on ENPP5.
    2. The ENPP5 is able to cleave nicotinamide adenine dinucleotide (NAD), suggesting a potential role of this enzyme in NAD-based neurotransmission.
      Title: A key tyrosine substitution restricts nucleotide hydrolysis by the ectoenzyme NPP5.
    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

    • KIAA0879

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ diphosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell communication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ectonucleotide pyrophosphatase/phosphodiesterase family member 5
    Names
    E-NPP 5
    ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)
    NP_001277001.1
    NP_001277002.1
    NP_067547.1
    XP_005249317.1
    XP_011513088.1
    XP_054212113.1
    XP_054212114.1

    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.

    Genomic

    1. NG_033986.1 RefSeqGene

      Range
      5031..16826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290072.2 → NP_001277001.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001277001.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AY358514, BC027615, BF593433, BX647968, DC321540
      Consensus CDS
      CCDS4915.1
      UniProtKB/Swiss-Prot
      Q5TFV2, Q6UX49, Q9UJA9
      UniProtKB/TrEMBL
      A8K9X7
      Related
      ENSP00000360436.1, ENST00000371383.7
      Conserved Domains (1) summary
      pfam01663
      Location:30 → 342
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

    2. NM_001290073.2 → NP_001277002.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK295192, BC027615, BF593433, BX647968, DC332590
      UniProtKB/TrEMBL
      B4DHN2
      Conserved Domains (2) summary
      pfam01663
      Location:1 → 248
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cd16018
      Location:1 → 288
      Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

    3. NM_021572.6 → NP_067547.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_067547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      BC027615, BF593433, BX647968, DC332590
      Consensus CDS
      CCDS4915.1
      UniProtKB/Swiss-Prot
      Q5TFV2, Q6UX49, Q9UJA9
      UniProtKB/TrEMBL
      A8K9X7
      Related
      ENSP00000230565.3, ENST00000230565.3
      Conserved Domains (1) summary
      pfam01663
      Location:30 → 342
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      46159185..46170980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249260.5 → XP_005249317.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform X1

      See identical proteins and their annotated locations for XP_005249317.1

      UniProtKB/Swiss-Prot
      Q5TFV2, Q6UX49, Q9UJA9
      UniProtKB/TrEMBL
      A8K9X7
      Conserved Domains (1) summary
      pfam01663
      Location:30 → 342
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

    2. XM_011514786.4 → XP_011513088.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform X1

      See identical proteins and their annotated locations for XP_011513088.1

      UniProtKB/Swiss-Prot
      Q5TFV2, Q6UX49, Q9UJA9
      UniProtKB/TrEMBL
      A8K9X7
      Conserved Domains (1) summary
      pfam01663
      Location:30 → 342
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      45994273..46006158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356139.1 → XP_054212114.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform X1

      UniProtKB/Swiss-Prot
      Q5TFV2, Q6UX49, Q9UJA9

    2. XM_054356138.1 → XP_054212113.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform X1

      UniProtKB/Swiss-Prot
      Q5TFV2, Q6UX49, Q9UJA9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJA9.1 GenPept UniProtKB/Swiss-Prot:Q9UJA9

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