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

Gene ID: 64077, updated on 12-Oct-2019

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
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
Expression
Ubiquitous expression in brain (RPKM 7.5), kidney (RPKM 4.5) and 25 other tissues See more
Orthologs

Genomic context

See LHPP in Genome Data Viewer
Location:
10q26.13
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (124461823..124614141)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126150341..126302710)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NK1 homeobox 2 Neighboring gene ornithine aminotransferase pseudogene 1 Neighboring gene ribosomal protein S10 pseudogene 18 Neighboring gene uncharacterized LOC105378539 Neighboring gene family with sequence similarity 53 member B Neighboring gene Sharpr-MPRA regulatory regions 4217 and 14470

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
    Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
  • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
    Oxidative phosphorylation, organism-specific biosystem
    Oxidative phosphorylation
  • Oxidative phosphorylation, conserved biosystem (from KEGG)
    Oxidative phosphorylation, conserved biosystem
    Oxidative phosphorylation
  • Purine metabolism, organism-specific biosystem (from REACTOME)
    Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
  • Purine ribonucleoside monophosphate biosynthesis, organism-specific biosystem (from REACTOME)
    Purine ribonucleoside monophosphate biosynthesis, organism-specific biosystemThe purine ribonucleotide inosine 5'-monophosphate (IMP) is assembled on 5-phospho-alpha-D-ribose 1-diphosphate (PRPP), with atoms derived from aspartate, glutamine, glycine, N10-formyl-tetrahydrofol...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44846, FLJ46044, MGC117251, MGC142189, MGC142191

Gene Ontology Provided by GOA

Function Evidence Code Pubs
inorganic diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inorganic diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein histidine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein histidine phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphate-containing compound metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein dephosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
purine ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
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_016871999.1
XP_016872000.1
XP_016872001.1
XP_024303890.1

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q9H008
    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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 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 X3

    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 X4

    Conserved Domains (1) summary
    cl28370
    Location:11239
    NagD; Ribonucleotide monophosphatase NagD, HAD superfamily [Nucleotide transport and metabolism]
  3. XM_017016510.1XP_016871999.1  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
  4. XM_017016511.1XP_016872000.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X5

  5. XM_017016509.1XP_016871998.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X1

  6. XM_011540058.3XP_011538360.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X6

    Conserved Domains (2) summary
    pfam13242
    Location:186208
    Hydrolase_like; HAD-hyrolase-like
    pfam13344
    Location:14111
    Hydrolase_6; Haloacid dehalogenase-like hydrolase
  7. XM_017016512.1XP_016872001.1  phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform X7

RNA

  1. XR_001747177.2 RNA Sequence

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