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    LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase [ Homo sapiens (human) ]

    Gene ID: 64077, updated on 27-Nov-2024

    Summary

    Official Symbol
    LHPPprovided by HGNC
    Official Full Name
    phospholysine phosphohistidine inorganic pyrophosphate phosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:30042
    See related
    Ensembl:ENSG00000107902 MIM:617231; AllianceGenome:HGNC:30042
    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
    HDHD2B
    Summary
    Enables inorganic diphosphate phosphatase activity and protein homodimerization activity. Involved in phosphate-containing compound metabolic process. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.5), kidney (RPKM 4.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LHPP in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (124461823..124614141)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (125340028..125495193)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126150392..126302710)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126135289-126136156 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:126139473-126140028 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:126140029-126140585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126152248-126152748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126152749-126153249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126156959-126157916 Neighboring gene NK1 homeobox 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126163369-126163869 Neighboring gene ornithine aminotransferase pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:126169709-126169860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126170100-126170636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126172247-126172783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126172784-126173319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126183769-126184346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126184347-126184924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126184925-126185502 Neighboring gene ribosomal protein S10 pseudogene 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126210683-126211224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4166 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2911 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126221662-126222195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126222196-126222728 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126228406-126228906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4167 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10867 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_10870 and experimental_10871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126247815-126248795 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126254941-126255518 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126294466-126295410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126301501-126302011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126310260-126310760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126313637-126314592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126314593-126315548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126315549-126316504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126318420-126319272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126326782-126327282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126328441-126329180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126330659-126331396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4171 Neighboring gene Sharpr-MPRA regulatory regions 4217 and 14470 Neighboring gene Sharpr-MPRA regulatory region 12473 Neighboring gene family with sequence similarity 53 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4173 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126347140-126348026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126352280-126352937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126359217-126359750 Neighboring gene Sharpr-MPRA regulatory region 1593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126362023-126362646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2912 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:126373874-126374845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126376343-126376844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4175 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:126381504-126381695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126388301-126388971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126393799-126394390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126397487-126398205 Neighboring gene Sharpr-MPRA regulatory region 10105 Neighboring gene FAM53B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126412727-126413693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126421434-126421976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4185 Neighboring gene EEF1A lysine methyltransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126480408-126481132

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ44846, FLJ46044, MGC117251, MGC142189, MGC142191

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inorganic diphosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables inorganic diphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in phosphate-containing compound metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    phospholysine phosphohistidine inorganic pyrophosphate phosphatase
    Names
    hLHPP
    NP_001161352.1
    NP_001305260.1
    NP_001305261.1
    NP_071409.3
    XP_005270083.1
    XP_011538360.1
    XP_016871998.1
    XP_016872001.1
    XP_024303890.1
    XP_054222503.1
    XP_054222504.1
    XP_054222505.1
    XP_054222506.1
    XP_054222507.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001167880.2NP_001161352.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL445237, BC007324, BC113629
      Consensus CDS
      CCDS53587.1
      UniProtKB/Swiss-Prot
      Q9H008
      Related
      ENSP00000357832.1, ENST00000368839.1
      Conserved Domains (2) summary
      pfam13242
      Location:186209
      Hydrolase_like; HAD-hyrolase-like
      pfam13344
      Location:14111
      Hydrolase_6; Haloacid dehalogenase-like hydrolase
    2. NM_001318331.2NP_001305260.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks alternate in-frame exons in the coding region compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      BC073172, BC110344, BC113629, HY154569
      UniProtKB/Swiss-Prot
      Q9H008
      Conserved Domains (2) summary
      TIGR01458
      Location:11184
      HAD-SF-IIA-hyp3; HAD-superfamily subfamily IIA hydrolase, TIGR01458
      pfam13344
      Location:14111
      Hydrolase_6; Haloacid dehalogenase-like hydrolase
    3. NM_001318332.2NP_001305261.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks a portion of the 3' coding region and uses an alternate 3'-terminal exon compared to variant 1. It encodes isoform 4, which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL445237, AW631352, BC113629, BM541880, BQ012268
      Consensus CDS
      CCDS81519.1
      UniProtKB/TrEMBL
      Q5T1Z0
      Related
      ENSP00000376512.4, ENST00000392757.8
      Conserved Domains (2) summary
      pfam13242
      Location:186208
      Hydrolase_like; HAD-hyrolase-like
      pfam13344
      Location:14111
      Hydrolase_6; Haloacid dehalogenase-like hydrolase
    4. NM_022126.4NP_071409.3  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform 1

      See identical proteins and their annotated locations for NP_071409.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK055532, AL445237, BC007324, BC113631
      Consensus CDS
      CCDS7640.1
      UniProtKB/Swiss-Prot
      B3KP20, Q2TBE9, Q5VUV9, Q5VUW0, Q9H008
      Related
      ENSP00000357835.5, ENST00000368842.10
      Conserved Domains (3) summary
      TIGR01458
      Location:11267
      HAD-SF-IIA-hyp3; HAD-superfamily subfamily IIA hydrolase, TIGR01458
      pfam13242
      Location:186260
      Hydrolase_like; HAD-hyrolase-like
      pfam13344
      Location:14111
      Hydrolase_6; Haloacid dehalogenase-like hydrolase

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      124461823..124614141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270026.4XP_005270083.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X2

      Conserved Domains (3) summary
      TIGR01460
      Location:14236
      HAD-SF-IIA; Haloacid Dehalogenase Superfamily Class (subfamily) IIA
      pfam13242
      Location:186243
      Hydrolase_like; HAD-hyrolase-like
      pfam13344
      Location:14111
      Hydrolase_6; Haloacid dehalogenase-like hydrolase
    2. XM_024448122.1XP_024303890.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X3

      Conserved Domains (1) summary
      cl28370
      Location:11239
      NagD; Ribonucleotide monophosphatase NagD, HAD superfamily [Nucleotide transport and metabolism]
    3. XM_017016509.2XP_016871998.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X1

    4. XM_011540058.4XP_011538360.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X4

      Conserved Domains (2) summary
      pfam13242
      Location:186208
      Hydrolase_like; HAD-hyrolase-like
      pfam13344
      Location:14111
      Hydrolase_6; Haloacid dehalogenase-like hydrolase
    5. XM_017016512.2XP_016872001.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X5

    RNA

    1. XR_001747177.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      125340028..125495193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366529.1XP_054222504.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X2

    2. XM_054366530.1XP_054222505.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X3

    3. XM_054366528.1XP_054222503.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X1

    4. XM_054366531.1XP_054222506.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X4

    5. XM_054366532.1XP_054222507.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X5

    RNA

    1. XR_008488245.1 RNA Sequence