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    NKPD1 NTPase KAP family P-loop domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 284353, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NKPD1provided by HGNC
    Official Full Name
    NTPase KAP family P-loop domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:24739
    See related
    Ensembl:ENSG00000179846 AllianceGenome:HGNC:24739
    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 be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in skin (RPKM 5.9) and testis (RPKM 0.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See NKPD1 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45149744..45162841, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47974875..47987974, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45653002..45664240, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45593049-45594044 Neighboring gene gem nuclear organelle associated protein 7 Neighboring gene GEMIN7 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45594045-45595039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45600806-45601394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45601395-45601984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45603163-45603750 Neighboring gene protein phosphatase 1 regulatory subunit 37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45608463-45609052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45619689-45620344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14785 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45632987-45633488 Neighboring gene Sharpr-MPRA regulatory region 10789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45638457-45639261 Neighboring gene MPRA-validated peak3514 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45641146-45641718 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45656063-45656688 Neighboring gene uncharacterized LOC105372420 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45657908-45658134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45658871-45659588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45663890-45664522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14787 Neighboring gene trafficking protein particle complex subunit 6A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45680873-45681816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14789 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45682829-45683329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45683755-45684256 Neighboring gene Sharpr-MPRA regulatory region 2997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10758 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 3 Neighboring gene Sharpr-MPRA regulatory region 12921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45719170-45719704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45720327-45721022 Neighboring gene exocyst complex component 3 like 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Nonsynonymous Variation in NKPD1 Increases Depressive Symptoms in European Populations. Amin N, et al. Biol Psychiatry, 2017 Apr 15. PMID 27745872
    2. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines. Pinto CS, et al. J Neurochem, 2005 Jun. PMID 15935074
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study suggests that nonsynonymous variation in the gene NKPD1 affects depressive symptoms in the general population.
      Title: Nonsynonymous Variation in NKPD1 Increases Depressive Symptoms in European Populations.
    2. altered membrane NTPase activity is a biochemical hallmark of HPRT deficiency, but species and cell-type differences have to be considered
      Title: Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33600, AC005757.7

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    NTPase KAP family P-loop domain-containing protein 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.

    mRNA and Protein(s)

    1. NM_198478.4 → NP_940880.3  NTPase KAP family P-loop domain-containing protein 1

      See identical proteins and their annotated locations for NP_940880.3

      Status: VALIDATED

      Source sequence(s)
      AC005757
      UniProtKB/TrEMBL
      A0A7N4I390
      Related
      ENSP00000509174.1, ENST00000686631.1
      Conserved Domains (1) summary
      cl21455
      Location:259 → 564
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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
      45149744..45162841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526805.3 → XP_011525107.1  NTPase KAP family P-loop domain-containing protein 1 isoform X3

      UniProtKB/Swiss-Prot
      B7ZLG6, D6RH15, Q17RQ9, Q8N2A2
      Conserved Domains (1) summary
      cl21455
      Location:84 → 389
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_011526804.3 → XP_011525106.1  NTPase KAP family P-loop domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B7ZLG6, D6RH15, Q17RQ9, Q8N2A2
      Conserved Domains (1) summary
      cl21455
      Location:140 → 445
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_011526799.3 → XP_011525101.1  NTPase KAP family P-loop domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011525101.1

      Conserved Domains (1) summary
      cl21455
      Location:286 → 591
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47974875..47987974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320629.1 → XP_054176604.1  NTPase KAP family P-loop domain-containing protein 1 isoform X3

      UniProtKB/Swiss-Prot
      B7ZLG6, D6RH15, Q17RQ9, Q8N2A2

    2. XM_054320628.1 → XP_054176603.1  NTPase KAP family P-loop domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B7ZLG6, D6RH15, Q17RQ9, Q8N2A2

    3. XM_054320627.1 → XP_054176602.1  NTPase KAP family P-loop domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17RQ9.1 GenPept UniProtKB/Swiss-Prot:Q17RQ9

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