Format

Send to:

Choose Destination

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

Gene ID: 5744, updated on 3-Oct-2020

Summary

Official Symbol
PTHLHprovided by HGNC
Official Full Name
parathyroid hormone like hormoneprovided by HGNC
Primary source
HGNC:HGNC:9607
See related
Ensembl:ENSG00000087494 MIM:168470
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]
Expression
Broad expression in esophagus (RPKM 1.7), endometrium (RPKM 1.5) and 19 other tissues See more
Orthologs

Genomic context

See PTHLH in Genome Data Viewer
Location:
12p11.22
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (27958084..27972864, 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 RN7SK pseudogene 15 Neighboring gene uncharacterized LOC105369710 Neighboring gene uncharacterized LOC107984462 Neighboring gene intraflagellar transport 57 homolog (Chlamydomonas) pseudogene

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

Associated conditions

Description Tests
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
GeneReviews: Not available
Brachydactyly type E2
MedGen: C3150644 OMIM: 613382 GeneReviews: Not available
Compare labs
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
GeneReviews: Not available
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
GeneReviews: Not available
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
GeneReviews: Not available
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available
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.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

Little evidence for dosage pathogenicity (Last evaluated (2019-01-10)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2019-01-10)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14611

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
cAMP metabolic process TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
female pregnancy TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of chondrocyte development IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of chondrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
osteoblast development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
regulation of chondrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
skeletal system development IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol 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
 

General protein information

Preferred Names
parathyroid hormone-related protein
Names
PTH-rP
PTH-related protein
osteostatin
parathyroid hormone-like hormone preproprotein
parathyroid hormone-like related protein

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.

Genomic

  1. NG_023197.1 RefSeqGene

    Range
    4251..18900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002820.3NP_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)
    AC008011, BC005961, BG680355, BI963162, J03802
    Consensus CDS
    CCDS8715.1
    UniProtKB/Swiss-Prot
    P12272
    UniProtKB/TrEMBL
    Q53XY9
    Related
    ENSP00000201015.4, ENST00000201015.8
    Conserved Domains (1) summary
    pfam01279
    Location:35117
    Parathyroid; Parathyroid hormone family
  2. NM_198964.2NP_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)
    AC008011, BC005961, BG679319, BI963162, J03802
    Consensus CDS
    CCDS8715.1
    UniProtKB/Swiss-Prot
    P12272
    UniProtKB/TrEMBL
    Q53XY9
    Related
    ENSP00000379209.3, ENST00000395868.7
    Conserved Domains (1) summary
    pfam01279
    Location:35117
    Parathyroid; Parathyroid hormone family
  3. NM_198965.2NP_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)
    AC008011
    Consensus CDS
    CCDS44853.1
    UniProtKB/Swiss-Prot
    P12272
    UniProtKB/TrEMBL
    A0A024RB29
    Related
    ENSP00000441765.1, ENST00000545234.6
    Conserved Domains (1) summary
    pfam01279
    Location:35117
    Parathyroid; Parathyroid hormone family
  4. NM_198966.2NP_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)
    AC008011, AI569027, AI591151, AI760061, BG676028, BG679319
    Consensus CDS
    CCDS44853.1
    UniProtKB/Swiss-Prot
    P12272
    UniProtKB/TrEMBL
    A0A024RB29
    Related
    ENSP00000441571.1, ENST00000539239.5
    Conserved Domains (1) summary
    pfam01279
    Location:35117
    Parathyroid; Parathyroid hormone family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    27958084..27972864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019675.1XP_016875164.1  parathyroid hormone-related protein isoform X1

    UniProtKB/Swiss-Prot
    P12272
    UniProtKB/TrEMBL
    A0A024RB29
    Conserved Domains (1) summary
    pfam01279
    Location:35117
    Parathyroid; Parathyroid hormone family
  2. XM_011520774.2XP_011519076.1  parathyroid hormone-related protein isoform X1

    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
Support Center