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Aliases for CSHL1 Gene

Aliases for CSHL1 Gene

  • Chorionic Somatomammotropin Hormone-Like 1 2 3
  • Csl 3 4 6
  • Chorionic Somatomammotropin CS-5 2 3
  • CSHP1 3 4
  • Chorionic Somatomammotropin-Like 4
  • Growth Hormone Cluster 3
  • Lactogen-Like 4
  • HCS-L 3
  • CS-5 3

External Ids for CSHL1 Gene

Previous HGNC Symbols for CSHL1 Gene

  • CSHP1

Previous GeneCards Identifiers for CSHL1 Gene

  • GC17U990018
  • GC17M064413
  • GC17M062327
  • GC17M062460
  • GC17M059305
  • GC17M059340
  • GC17M061986
  • GC17M057354

Summaries for CSHL1 Gene

Entrez Gene Summary for CSHL1 Gene

  • The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed 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. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for CSHL1 Gene

CSHL1 (Chorionic Somatomammotropin Hormone-Like 1) is a Protein Coding gene. Diseases associated with CSHL1 include trophoblastic neoplasm and isolated growth hormone deficiency. Among its related pathways are Notch Signaling Pathway (sino). GO annotations related to this gene include hormone activity. An important paralog of this gene is CSH1.

UniProtKB/Swiss-Prot for CSHL1 Gene

  • May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSHL1 Gene

Genomics for CSHL1 Gene

Regulatory Elements for CSHL1 Gene

Genomic Location for CSHL1 Gene

Start:
63,909,597 bp from pter
End:
63,918,838 bp from pter
Size:
9,242 bases
Orientation:
Minus strand

Genomic View for CSHL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CSHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSHL1 Gene

Proteins for CSHL1 Gene

  • Protein details for CSHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14406-CSHL_HUMAN
    Recommended name:
    Chorionic somatomammotropin hormone-like 1
    Protein Accession:
    Q14406
    Secondary Accessions:
    • D3DU26
    • D3DU27
    • Q0VDB2

    Protein attributes for CSHL1 Gene

    Size:
    222 amino acids
    Molecular mass:
    25391 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CSHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSHL1 Gene

Proteomics data for CSHL1 Gene at MOPED

Post-translational modifications for CSHL1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CSHL1 Gene

Domains for CSHL1 Gene

Suggested Antigen Peptide Sequences for CSHL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14406

UniProtKB/Swiss-Prot:

CSHL_HUMAN :
  • Q14406
Family:
  • Belongs to the somatotropin/prolactin family.
genes like me logo Genes that share domains with CSHL1: view

No data available for Gene Families for CSHL1 Gene

Function for CSHL1 Gene

Molecular function for CSHL1 Gene

GENATLAS Biochemistry: chorionic somatomammotropin hormone,like-sequence 1 (see GH@)
UniProtKB/Swiss-Prot Function: May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation.

Gene Ontology (GO) - Molecular Function for CSHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity NAS 2744760
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CSHL1: view

Phenotypes for CSHL1 Gene

GenomeRNAi human phenotypes for CSHL1:
genes like me logo Genes that share phenotypes with CSHL1: view

miRNA for CSHL1 Gene

miRTarBase miRNAs that target CSHL1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CSHL1 Gene

Localization for CSHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSHL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSHL1 Gene COMPARTMENTS Subcellular localization image for CSHL1 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for CSHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with CSHL1: view

Pathways for CSHL1 Gene

SuperPathways for CSHL1 Gene

Superpath Contained pathways
1 Notch Signaling Pathway (sino)
genes like me logo Genes that share pathways with CSHL1: view

Pathways by source for CSHL1 Gene

1 Sino Biological pathway for CSHL1 Gene

Interacting Proteins for CSHL1 Gene

Gene Ontology (GO) - Biological Process for CSHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CSHL1: view

Transcripts for CSHL1 Gene

Unigene Clusters for CSHL1 Gene

Chorionic somatomammotropin hormone-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CSHL1 Gene

No ASD Table

Relevant External Links for CSHL1 Gene

GeneLoc Exon Structure for
CSHL1
ECgene alternative splicing isoforms for
CSHL1

Expression for CSHL1 Gene

mRNA expression in normal human tissues for CSHL1 Gene

mRNA differential expression in normal tissues according to GTEx for CSHL1 Gene

This gene is overexpressed in Pituitary (46.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CSHL1 Gene

SOURCE GeneReport for Unigene cluster for CSHL1 Gene Hs.655225

genes like me logo Genes that share expressions with CSHL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CSHL1 Gene

Orthologs for CSHL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSHL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PL-B 35
  • 96.31 (n)
  • 94.01 (a)
cow
(Bos Taurus)
Mammalia GH1 35
  • 74.26 (n)
  • 60.47 (a)
GH1 36
  • 59 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GH1 35
  • 74.11 (n)
  • 60.93 (a)
GH1 36
  • 60 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gh 35
  • 72.87 (n)
  • 58.6 (a)
Gh 36
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GH1 36
  • 54 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gh1 35
  • 73.33 (n)
  • 58.6 (a)
chicken
(Gallus gallus)
Aves GH 35
  • 65.28 (n)
  • 52.6 (a)
GH1 36
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492540 35
  • 59.37 (n)
  • 47.4 (a)
zebrafish
(Danio rerio)
Actinopterygii gh1 35
  • 49.91 (n)
  • 36.87 (a)
gh1 36
  • 32 (a)
OneToMany
Species with no ortholog for CSHL1:
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSHL1 Gene

ENSEMBL:
Gene Tree for CSHL1 (if available)
TreeFam:
Gene Tree for CSHL1 (if available)

Paralogs for CSHL1 Gene

Paralogs for CSHL1 Gene

Selected SIMAP similar genes for CSHL1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CSHL1: view

Variants for CSHL1 Gene

Sequence variations from dbSNP and Humsavar for CSHL1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs2001186 -- 63,910,684(-) GAGGA(C/G)ACTAA intron-variant
rs2003778 -- 63,910,709(-) CTTTC(C/T)CCCAC intron-variant
rs2006122 -- 63,910,045(-) TCACC(A/T)TATTC intron-variant
rs2006208 -- 63,910,654(-) TGAAG(C/T)GAAAA intron-variant
rs2070680 -- 63,909,628(-) TTGTC(C/T)TAATA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CSHL1 Gene

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

Relevant External Links for CSHL1 Gene

HapMap Linkage Disequilibrium report
CSHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSHL1 Gene

Disorders for CSHL1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for CSHL1 Gene including...

Search for CSHL1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for CSHL1 Gene

(1) Novoseek inferred disease relationships for CSHL1 Gene

Disease -log(P) Hits PubMed IDs
choriocarcinoma 53.9 1

Relevant External Links for CSHL1

Genetic Association Database (GAD)
CSHL1
Human Genome Epidemiology (HuGE) Navigator
CSHL1
genes like me logo Genes that share disorders with CSHL1: view

No data available for UniProtKB/Swiss-Prot for CSHL1 Gene

Publications for CSHL1 Gene

  1. Complex alternative splicing partially inactivates the human chorionic somatomammotropin-like (hCS-L) gene. (PMID: 8083227) Misra-Press A. … Liebhaber S.A. (J. Biol. Chem. 1994) 2 3 4 23
  2. The human growth hormone locus: nucleotide sequence, biology, and evolution. (PMID: 2744760) Chen E.Y. … Seeburg P.H. (Genomics 1989) 3 4
  3. Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. (PMID: 1378436) MacLeod J.N. … Cooke N.E. (J. Biol. Chem. 1992) 3 23
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for CSHL1 Gene

Sources for CSHL1 Gene

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