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    PTHLH parathyroid hormone like hormone [ Homo sapiens (human) ]

    Gene ID: 5744, updated on 8-Aug-2016
    Official Symbol
    PTHLHprovided by HGNC
    Official Full Name
    parathyroid hormone like hormoneprovided by HGNC
    Primary source
    HGNC:HGNC:9607
    See related
    Ensembl:ENSG00000087494 HPRD:01348; MIM:168470; Vega:OTTHUMG00000169221
    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
    HHM; PLP; BDE2; PTHR; PTHRP
    Summary
    The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]
    Orthologs
    Location:
    12p12.1-p11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (27958084..27974187, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28111017..28125664, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369709 Neighboring gene RNA, 7SK small nuclear pseudogene 15 Neighboring gene uncharacterized LOC105369710 Neighboring gene uncharacterized LOC107984462 Neighboring gene intraflagellar transport 57 homolog (Chlamydomonas) pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Brachydactyly type E2
    MedGen: C3150644 OMIM: 613382 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2013-04-26)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
    NHGRI GWA Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
    NHGRI GWA Catalog
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    NHGRI GWA Catalog
    Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
    NHGRI GWA Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    NHGRI GWA Catalog
    • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
      Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystem
      Endochondral Ossification
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling events mediated by the Hedgehog family, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by the Hedgehog family, organism-specific biosystem
      Signaling events mediated by the Hedgehog family
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC14611

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptide hormone receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    parathyroid hormone-related protein
    Names
    PTH-rP
    PTH-related protein
    osteostatin
    parathyroid hormone-like hormone preproprotein
    parathyroid hormone-like related protein

    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_023197.1 RefSeqGene

      Range
      5001..18900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002820.2NP_002811.1  parathyroid hormone-related protein isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_002811.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' CDS and UTR, compared to variant 1. The resulting isoform (2) has a shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      BC005961, BG680355, BI963162, J03802
      Consensus CDS
      CCDS8715.1
      UniProtKB/Swiss-Prot
      P12272
      UniProtKB/TrEMBL
      Q53XY9
      Related
      ENSP00000201015, ENST00000201015
      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family
    2. NM_198964.1NP_945315.1  parathyroid hormone-related protein isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_945315.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and in the 3' CDS and UTR, compared to variant 1. The resulting isoform (2) has a shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      BC005961, BG679319, BI963162, J03802
      Consensus CDS
      CCDS8715.1
      UniProtKB/Swiss-Prot
      P12272
      UniProtKB/TrEMBL
      Q53XY9
      Related
      ENSP00000379209, OTTHUMP00000240433, ENST00000395868, OTTHUMT00000402916
      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family
    3. NM_198965.1NP_945316.1  parathyroid hormone-related protein isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_945316.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI569027, AI591151, AI760061, BG680355, BI752853
      Consensus CDS
      CCDS44853.1
      UniProtKB/Swiss-Prot
      P12272
      UniProtKB/TrEMBL
      A0A024RB29
      Related
      ENSP00000379213, ENST00000395872
      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family
    4. NM_198966.1NP_945317.1  parathyroid hormone-related protein isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_945317.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Both variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AI569027, AI591151, AI760061, BG676028, BG679319
      Consensus CDS
      CCDS44853.1
      UniProtKB/Swiss-Prot
      P12272
      UniProtKB/TrEMBL
      A0A024RB29
      Related
      ENSP00000441571, OTTHUMP00000240429, ENST00000539239, OTTHUMT00000402912
      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      27958084..27974187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019674.1XP_016875163.1  

      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family
    2. XM_017019675.1XP_016875164.1  

      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family
    3. XM_011520775.2XP_011519077.1  

      See identical proteins and their annotated locations for XP_011519077.1

      UniProtKB/Swiss-Prot
      P12272
      UniProtKB/TrEMBL
      A0A024RB29
      Related
      ENSP00000441765, OTTHUMP00000240430, ENST00000545234, OTTHUMT00000402913
      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family
    4. XM_011520774.2XP_011519076.1  

      See identical proteins and their annotated locations for XP_011519076.1

      UniProtKB/Swiss-Prot
      P12272
      UniProtKB/TrEMBL
      A0A024RB29
      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      28076045..28089944 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)