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Aliases for CSH1 Gene

Aliases for CSH1 Gene

  • Chorionic Somatomammotropin Hormone 1 2 3 5
  • Placental Lactogen 2 3 4
  • Choriomammotropin 2 3 4
  • Chorionic Somatomammotropin A 2 3
  • PL 3 4
  • Chorionic Somatomammotropin-1 3
  • Growth Hormone B3 3
  • Lactogen 4
  • HCS-1 3
  • HCS-A 3
  • CS-1 3
  • CSMT 3
  • GHB3 3
  • CSA 3

External Ids for CSH1 Gene

Previous GeneCards Identifiers for CSH1 Gene

  • GC17U990017
  • GC17M064398
  • GC17M062291
  • GC17M062422
  • GC17M062445
  • GC17M059326
  • GC17M059307
  • GC17M061972
  • GC17M057339

Summaries for CSH1 Gene

Entrez Gene Summary for CSH1 Gene

  • The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for CSH1 Gene

CSH1 (Chorionic Somatomammotropin Hormone 1) is a Protein Coding gene. Diseases associated with CSH1 include Choriocarcinoma and Persistent Fetal Circulation Syndrome. Among its related pathways are Growth hormone receptor signaling and Jak-STAT signaling pathway (KEGG). GO annotations related to this gene include hormone activity. An important paralog of this gene is CSH2.

UniProtKB/Swiss-Prot for CSH1 Gene

  • Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization.

Additional gene information for CSH1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSH1 Gene

Genomics for CSH1 Gene

Regulatory Elements for CSH1 Gene


Genomic Location for CSH1 Gene

Chromosome:
17
Start:
63,894,908 bp from pter
End:
63,896,661 bp from pter
Size:
1,754 bases
Orientation:
Minus strand

Genomic View for CSH1 Gene

Genes around CSH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSH1 Gene

Proteins for CSH1 Gene

  • Protein details for CSH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DML2-CSH1_HUMAN
    Recommended name:
    Chorionic somatomammotropin hormone 1
    Protein Accession:
    P0DML2
    Secondary Accessions:
    • P01243
    • Q0VDB1
    • Q14407

    Protein attributes for CSH1 Gene

    Size:
    217 amino acids
    Molecular mass:
    25020 Da
    Quaternary structure:
    • Can be found in a monomeric as well as dimeric form.
    Miscellaneous:
    • CSH1 sequence only differs from CSH2 sequence in 1 aa.

    Three dimensional structures from OCA and Proteopedia for CSH1 Gene

neXtProt entry for CSH1 Gene

Post-translational modifications for CSH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CSH1 Gene

Protein Products

No data available for DME Specific Peptides for CSH1 Gene

Domains & Families for CSH1 Gene

Gene Families for CSH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CSH1 Gene

Graphical View of Domain Structure for InterPro Entry

P0DML2

UniProtKB/Swiss-Prot:

CSH1_HUMAN :
  • Belongs to the somatotropin/prolactin family.
Family:
  • Belongs to the somatotropin/prolactin family.
genes like me logo Genes that share domains with CSH1: view

Function for CSH1 Gene

Molecular function for CSH1 Gene

GENATLAS Biochemistry:
chorionic somatomammotropin hormone 1 (see GH@)
UniProtKB/Swiss-Prot Function:
Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization.

Phenotypes From GWAS Catalog for CSH1 Gene

Gene Ontology (GO) - Molecular Function for CSH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CSH1: view

Phenotypes for CSH1 Gene

genes like me logo Genes that share phenotypes with CSH1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CSH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CSH1 Gene

Localization for CSH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSH1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSH1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
endosome 4
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CSH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005783 endoplasmic reticulum IDA 6930851
GO:0031904 endosome lumen TAS --
GO:0031982 vesicle IDA 6930851
genes like me logo Genes that share ontologies with CSH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSH1 Gene

Pathways & Interactions for CSH1 Gene

genes like me logo Genes that share pathways with CSH1: view

Gene Ontology (GO) - Biological Process for CSH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060397 JAK-STAT cascade involved in growth hormone signaling pathway TAS --
genes like me logo Genes that share ontologies with CSH1: view

No data available for SIGNOR curated interactions for CSH1 Gene

Drugs & Compounds for CSH1 Gene

No Compound Related Data Available

Transcripts for CSH1 Gene

Unigene Clusters for CSH1 Gene

Chorionic somatomammotropin hormone 1 (placental lactogen):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CSH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CSH1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1:
SP2:
SP3: - - - - - - -
SP4: - - - - - - - - -
SP5: -
SP6: -
SP7:
SP8:

Relevant External Links for CSH1 Gene

GeneLoc Exon Structure for
CSH1
ECgene alternative splicing isoforms for
CSH1

Expression for CSH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSH1 Gene

This gene is overexpressed in Pituitary (x30.3) and Adipose - Subcutaneous (x17.0).

Protein differential expression in normal tissues from HIPED for CSH1 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CSH1 Gene



Protein tissue co-expression partners for CSH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CSH1 Gene:

CSH1

SOURCE GeneReport for Unigene cluster for CSH1 Gene:

Hs.654390

Evidence on tissue expression from TISSUES for CSH1 Gene

  • Blood(2.2)
  • Liver(2.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with CSH1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSH1 Gene

Orthologs for CSH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSHL1 34 34
  • 99 (a)
ManyToMany
PL-D 33
  • 98.31 (n)
cow
(Bos Taurus)
Mammalia GH1 34
  • 62 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GH1 34
  • 62 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gh 34
  • 60 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GH1 34
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves GH1 34
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gh1 34
  • 34 (a)
OneToMany
Species where no ortholog for CSH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSH1 Gene

ENSEMBL:
Gene Tree for CSH1 (if available)
TreeFam:
Gene Tree for CSH1 (if available)

Paralogs for CSH1 Gene

Paralogs for CSH1 Gene

(4) SIMAP similar genes for CSH1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CSH1: view

Variants for CSH1 Gene

Sequence variations from dbSNP and Humsavar for CSH1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000733524 -- 63,894,773(+) GGCCC(A/G)GGAAC downstream-variant-500B
rs1000766451 -- 63,894,958(+) GGCAC(A/T)GGAGT utr-variant-3-prime
rs1002643687 -- 63,897,979(+) ACAAC(C/T)ACAAC upstream-variant-2KB
rs1003085858 -- 63,898,287(+) CACAG(A/C)AACCT upstream-variant-2KB
rs1003686574 -- 63,897,329(+) CATAG(C/T)CCTGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CSH1 Gene

Variant ID Type Subtype PubMed ID
dgv583e214 CNV loss 21293372
dgv960e212 CNV loss 25503493
dgv961e212 CNV loss 25503493
dgv962e212 CNV loss 25503493
esv2716099 CNV deletion 23290073
esv2716100 CNV deletion 23290073
esv2762566 CNV loss 21179565
esv3573787 CNV gain 25503493
esv3582856 CNV loss 25503493
esv3641012 CNV loss 21293372
esv3641014 CNV gain 21293372
esv3641016 CNV loss 21293372
esv3641017 CNV gain 21293372
nsv510720 CNV deletion 20534489
nsv517272 CNV gain+loss 19592680
nsv575855 CNV loss 21841781
nsv833510 CNV loss 17160897
nsv833511 CNV loss 17160897
nsv954553 CNV deletion 24416366
nsv960135 CNV duplication 23825009

Variation tolerance for CSH1 Gene

Residual Variation Intolerance Score: 65.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSH1 Gene

Human Gene Mutation Database (HGMD)
CSH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSH1 Gene

Disorders for CSH1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for CSH1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
choriocarcinoma
  • chorioepithelioma
persistent fetal circulation syndrome
  • congenital alveolar capillary dysplasia with misalignment of pulmonary veins
testicular trophoblastic tumor
non-gestational choriocarcinoma
  • choriocarcinoma, non-gestational
juvenile type testicular granulosa cell tumor
  • juvenile granulosa cell tumor
- elite association - COSMIC cancer census association via MalaCards
Search CSH1 in MalaCards View complete list of genes associated with diseases

Genatlas disease for CSH1 Gene

placental lactogen deficiency (CSH1 deficiency),with deletion encompassing CSH1,GHV,CSH2

Relevant External Links for CSH1

Genetic Association Database (GAD)
CSH1
Human Genome Epidemiology (HuGE) Navigator
CSH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSH1
genes like me logo Genes that share disorders with CSH1: view

No data available for UniProtKB/Swiss-Prot for CSH1 Gene

Publications for CSH1 Gene

  1. Analysis of a major human chorionic somatomammotropin gene. Evidence for two functional promoter elements. (PMID: 6208192) Selby MJ … Eberhardt NL (The Journal of biological chemistry 1984) 2 3 4 60
  2. Differential expression profile of growth hormone/chorionic somatomammotropin genes in placenta of small- and large-for-gestational-age newborns. (PMID: 20233782) Männik J … Laan M (The Journal of clinical endocrinology and metabolism 2010) 3 22 60
  3. Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genes. (PMID: 18473352) Sedman L … Laan M (Human mutation 2008) 4 22 60
  4. Do placental genes affect maternal breast cancer? Association between offspring's CGB5 and CSH1 gene variants and maternal breast cancer risk. (PMID: 19047151) Chen Y … Ahsan H (Cancer research 2008) 3 45 60
  5. A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population. (PMID: 17125497) Freathy RM … Frayling TM (Journal of negative results in biomedicine 2006) 3 45 60

Products for CSH1 Gene

Sources for CSH1 Gene

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