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Aliases for CSH1 Gene

Aliases for CSH1 Gene

  • Chorionic Somatomammotropin Hormone 1 2 3
  • Placental Lactogen 2 3 4
  • Choriomammotropin 2 3 4
  • Chorionic Somatomammotropin Hormone 1 (Placental Lactogen) 3 5
  • 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 silver-russell syndrome. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include hormone activity. An important paralog of this gene is CSHL1.

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.

No data available for 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

Proteomics data for CSH1 Gene at MOPED

Post-translational modifications for CSH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CSH1 Gene

No data available for DME Specific Peptides for CSH1 Gene

Domains & Families for CSH1 Gene

Gene Families for CSH1 Gene

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 for CSH1 Gene

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

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CSH1 Gene COMPARTMENTS Subcellular localization image for CSH1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4

No data available for Gene Ontology (GO) - Cellular Components for CSH1 Gene

Pathways & Interactions for CSH1 Gene

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

Interacting Proteins for CSH1 Gene

Gene Ontology (GO) - Biological Process for CSH1 Gene

None

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:

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 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



SOURCE GeneReport for Unigene cluster for CSH1 Gene Hs.654390

genes like me logo Genes that share expression patterns with CSH1: view

Protein tissue co-expression partners for CSH1 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 PL-D 35
  • 98.31 (n)
  • 97.7 (a)
CSHL1 36
  • 99 (a)
ManyToMany
CSHL1 36
  • 99 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia GH1 36
  • 62 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GH1 36
  • 62 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gh 36
  • 60 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GH1 36
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves GH1 36
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gh1 36
  • 34 (a)
OneToMany
Species with no ortholog for CSH1:
  • 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
rs1130686 -- 63,896,505(-) TGGCT(C/G/T)CAGGT reference, missense
rs1050840 -- 63,895,043(-) TCTGT(A/G)GAGGG reference, synonymous-codon
rs1050850 -- 63,895,037(-) GAGGG(C/T)AGCTG reference, synonymous-codon
rs1050857 -- 63,895,014(-) GCCCG(A/C)GTAGC utr-variant-3-prime
rs1050899 -- 63,894,950(-) GCCCA(C/T)CAGCC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv833510 CNV Loss 17160897
nsv510720 CNV Loss 20534489
nsv517272 CNV Gain+Loss 19592680
nsv833511 CNV Loss 17160897
esv2716099 CNV Deletion 23290073
esv2716100 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
CSH1
Human Gene Mutation Database (HGMD)
CSH1

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

Disorders for CSH1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
choriocarcinoma
  • choriocarcinoma, no icd-o subtype
silver-russell syndrome
  • silver russell dwarfism
severe nonproliferative diabetic retinopathy
  • high risk non proliferative diabetic retinopathy
gestational trophoblastic neoplasm
  • hydatidiform mole, recurrent, 1
isolated growth hormone deficiency
  • dwarfism, growth hormone deficiency
- 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 M.J. … Eberhardt N.L. (J. Biol. Chem. 1984) 2 3 4 67
  2. Differential expression profile of growth hormone/chorionic somatomammotropin genes in placenta of small- and large-for-gestational-age newborns. (PMID: 20233782) MAonnik J. … Laan M. (J. Clin. Endocrinol. Metab. 2010) 3 23
  3. Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25. (PMID: 14642004) Prager S. … Eggermann T. (Genet. Test. 2003) 3 23
  4. Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. (PMID: 11897833) Hitchins M.P. … Moore G.E. (J. Med. Genet. 2002) 3 23
  5. Splicing variants of the human growth hormone mRNA: detection in pituitary, mononuclear cells and dermal fibroblasts. (PMID: 8674830) Palmetshofer A. … Barta A. (Mol. Cell. Endocrinol. 1995) 3 23

Products for CSH1 Gene

Sources for CSH1 Gene

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