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Aliases for CSHL1 Gene

Aliases for CSHL1 Gene

  • Chorionic Somatomammotropin Hormone Like 1 2 3 5
  • Chorionic Somatomammotropin CS-5 2 3
  • CSHP1 3 4
  • CSL 3 4
  • Chorionic Somatomammotropin Hormone-Like 1 3
  • Chorionic Somatomammotropin-Like 4
  • Growth Hormone Cluster 3
  • Growth Hormone B4 3
  • Lactogen-Like 4
  • HCS-L 3
  • CS-5 3
  • GHB4 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. Among its related pathways are Growth hormone receptor signaling and Cytokine Signaling in Immune system. GO annotations related to this gene include hormone activity. An important paralog of this gene is CSH2.

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.

Additional gene information for CSHL1 Gene

No data available for CIViC summary , 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

Enhancers for CSHL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H064073 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -157.1 -157058 4.8 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 TCF12 GATA2 ERN1 DDX5 CSHL1 GH1 MAP3K3 LIMD2 ICAM2 PECAM1 MILR1 GC17M064041
GH17H064059 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -145.4 -145423 9.5 RB1 ARID4B BATF RAD21 SCRT2 ZNF143 ATF7 ETV6 IKZF2 MIXL1 ERN1 ENSG00000265982 GH1 CSHL1 DDX5 SCN4A PLEKHM1P1 SNORD104 CD79B MAP3K3
GH17H064079 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -164.0 -164018 6.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B ERN1 CSHL1 GH1 SNORD104 MAP3K3 PECAM1 DDX5 PRR29 LIMD2 ICAM2
GH17H064013 1.7 FANTOM5 ENCODE dbSUPER 12.7 -101.2 -101190 12.9 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 PRR29 SMARCD2 DDX5 FTSJ3 PLEKHM1P1 POLG2 ENSG00000281311 CEP95 DDX42 CSHL1
GH17H064213 1.6 Ensembl ENCODE dbSUPER 11.6 -297.3 -297345 5.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 SLC30A9 CEP95 DDX42 POLG2 SLC16A6P1 TEX2 ENSG00000265982 SMARCD2 ENSG00000265912 FTSJ3 PLEKHM1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CSHL1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CSHL1 Gene

Genomic Locations for CSHL1 Gene
chr17:63,909,597-63,918,838
(GRCh38/hg38)
Size:
9,242 bases
Orientation:
Minus strand
chr17:61,986,957-61,996,198
(GRCh37/hg19)

Genomic View for CSHL1 Gene

Genes around CSHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for CSHL1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CSHL1 Gene

Domains & Families for CSHL1 Gene

Gene Families for CSHL1 Gene

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

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

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.

Phenotypes From GWAS Catalog for CSHL1 Gene

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

Animal Models for CSHL1 Gene

MGI Knock Outs for CSHL1:
  • Gh tm1.1(KOMP)Vlcg

Animal Model Products

miRNA for CSHL1 Gene

miRTarBase miRNAs that target CSHL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSHL1 Gene

Localization for CSHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSHL1 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 CSHL1 gene
Compartment Confidence
extracellular 5
plasma membrane 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSHL1 Gene

Pathways & Interactions for CSHL1 Gene

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

Pathways by source 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

No data available for SIGNOR curated interactions for CSHL1 Gene

Drugs & Compounds for CSHL1 Gene

No Compound Related Data Available

Transcripts for CSHL1 Gene

Unigene Clusters for CSHL1 Gene

Chorionic somatomammotropin hormone-like 1:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CSHL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pituitary (x46.8).

Protein differential expression in normal tissues from HIPED for CSHL1 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CSHL1 Gene



Protein tissue co-expression partners for CSHL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CSHL1 Gene:

CSHL1

SOURCE GeneReport for Unigene cluster for CSHL1 Gene:

Hs.655225
genes like me logo Genes that share expression patterns with CSHL1: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 96.31 (n)
cow
(Bos Taurus)
Mammalia GH1 33 34
  • 74.26 (n)
dog
(Canis familiaris)
Mammalia GH1 33 34
  • 74.11 (n)
rat
(Rattus norvegicus)
Mammalia Gh1 33
  • 73.33 (n)
mouse
(Mus musculus)
Mammalia Gh 33 16 34
  • 72.87 (n)
oppossum
(Monodelphis domestica)
Mammalia GH1 34
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves GH 33
  • 65.28 (n)
GH1 34
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492540 33
  • 59.37 (n)
zebrafish
(Danio rerio)
Actinopterygii gh1 33 34
  • 49.91 (n)
Species where no ortholog for CSHL1 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)
  • 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

(4) 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
rs1000195267 -- 63,911,213(+) GAGCT(A/G)TCCAC utr-variant-5-prime
rs1002095340 -- 63,912,656(+) GGGCG(A/C)CAGAG upstream-variant-2KB
rs1002187387 -- 63,909,714(+) CCCTA(A/G)AAGCC reference, synonymous-codon, utr-variant-3-prime
rs1002220260 -- 63,909,826(+) GTGCG(A/T)CATGG reference, missense, utr-variant-3-prime
rs1002467642 -- 63,912,530(+) AAGTA(A/G)CTGTG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv960135 CNV duplication 23825009
nsv833511 CNV loss 17160897
nsv833510 CNV loss 17160897
nsv517272 CNV gain+loss 19592680
esv3641018 CNV loss 21293372
esv3641012 CNV loss 21293372
esv2716099 CNV deletion 23290073

Variation tolerance for CSHL1 Gene

Residual Variation Intolerance Score: 95.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.30; 90.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSHL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSHL1

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

Disorders for CSHL1 Gene

Relevant External Links for CSHL1

Genetic Association Database (GAD)
CSHL1
Human Genome Epidemiology (HuGE) Navigator
CSHL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSHL1

No disorders were found for CSHL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 SA (The Journal of biological chemistry 1994) 2 3 4 22 60
  2. 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 SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. (PMID: 1378436) MacLeod JN … Cooke NE (The Journal of biological chemistry 1992) 3 22 60
  4. The human growth hormone locus: nucleotide sequence, biology, and evolution. (PMID: 2744760) Chen EY … Seeburg PH (Genomics 1989) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for CSHL1 Gene

Sources for CSHL1 Gene

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