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

Gene ID: 284353, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
19q13.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45149744..45162841, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47974875..47987974, complement)
105.20220307 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: 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. 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)

Genotypes

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_2023_10

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

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

  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

Gene LinkOut

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