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 gen... See more...

Aliases for CSHL1 Gene

Aliases for CSHL1 Gene

  • Chorionic Somatomammotropin Hormone Like 1 2 3 5
  • Chorionic Somatomammotropin Hormone-Like 1 3 4
  • Chorionic Somatomammotropin CS-5 2 3
  • CSHP1 3 4
  • CSL 3 4
  • Epididymis Secretory Sperm Binding Protein 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. Diseases associated with CSHL1 include Isolated Growth Hormone Deficiency, Type Ia. Among its related pathways are Cytokine Signaling in Immune system and Growth hormone receptor signaling. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is CSH2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CSHL1 Gene

Genomics for CSHL1 Gene

GeneHancer (GH) Regulatory Elements for CSHL1 Gene

Promoters and enhancers for CSHL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J063912 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 750.4 +7.1 7137 1 CTCF RAD21 ZNF644 ZNF740 TRIM22 ZNF692 ZNF205 ZFP69B ZFHX2 ZBTB1 CSHL1 FTSJ3 CSH2 lnc-CD79B-1 lnc-CSH1-1 ENSG00000259333
GH17J063919 Enhancer 0.8 ENCODE 750.6 -0.6 -568 0.2 CTCF CC2D1A DACH1 RAD21 MAFK MLLT1 RELA IKZF1 ZNF24 HMG20B CSHL1 GH1 lnc-CSH1-1 lnc-CD79B-1 MAP3K3 FTSJ3 piR-61945-220 ENSG00000285947
GH17J063920 Enhancer 0.7 Ensembl dbSUPER 750.6 -1.7 -1663 0.6 HLF CEBPG CEBPA ATF7 CEBPB NFIL3 ATF2 RARA NR2F6 CSHL1 GH1 lnc-CSH1-1 lnc-CD79B-1 FTSJ3 piR-61945-220 ENSG00000285947
GH17J063921 Promoter/Enhancer 0.7 Ensembl ENCODE 750.6 +0.3 337 0.6 SP1 CTCF CSHL1 GH1 lnc-CSH1-1 lnc-CD79B-1 MILR1 ENSG00000285947 ENSG00000259333
GH17J063918 Promoter 0.5 EPDnew 750.6 0.0 -20 0.1 CTCF HES1 CSHL1 GH1 lnc-CSH1-1 lnc-CD79B-1 FTSJ3 piR-61945-220 ENSG00000285947
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSHL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSHL1 gene promoter:
  • AhR
  • Arnt
  • E47
  • FOXO4
  • Hand1
  • HFH-1
  • Lmo2
  • POU3F1

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)
Size:
9,242 bases
Orientation:
Minus strand

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:
  • Lactogen-like (CSHL_HUMAN)

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

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.
GENATLAS Biochemistry:
chorionic somatomammotropin hormone,like-sequence 1 (see GH@)

Phenotypes From GWAS Catalog for CSHL1 Gene

Gene Ontology (GO) - Molecular Function for CSHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005131 growth hormone receptor binding IBA 21873635
GO:0005179 hormone activity IEA,NAS 2744760
GO:0008083 growth factor activity IBA 21873635
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 Gh<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR 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 4
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 --
GO:0005615 extracellular space IBA 21873635
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

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 6)
STRING Interaction Network
Selected Interacting proteins: ENSP00000309524 Q14406-CSHL_HUMAN for CSHL1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CSHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0008150 biological_process ND --
GO:0031667 response to nutrient levels IBA 21873635
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IBA 21873635
GO:0045927 positive regulation of growth IBA 21873635
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

CRISPR Products

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 32
  • 96.31 (n)
cow
(Bos Taurus)
Mammalia GH1 33 32
  • 74.26 (n)
OneToMany
dog
(Canis familiaris)
Mammalia GH1 33 32
  • 74.11 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gh1 32
  • 73.33 (n)
mouse
(Mus musculus)
Mammalia Gh 17 33 32
  • 72.87 (n)
oppossum
(Monodelphis domestica)
Mammalia GH1 33
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves GH 32
  • 65.28 (n)
GH1 33
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492540 32
  • 59.37 (n)
zebrafish
(Danio rerio)
Actinopterygii gh1 33 32
  • 49.91 (n)
OneToMany
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:

  • CSHL_HUMAN
  • H0YKQ4_HUMAN
  • H7C3R7_HUMAN
  • I6L999_HUMAN
  • J3QT06_HUMAN
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 Variation AA Info Type
rs1000195267 -- 63,911,213(-) G/A 5_prime_UTR_variant
rs1002095340 -- 63,912,656(-) A/C upstream_transcript_variant
rs1002187387 -- 63,909,714(-) G/A 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1002220260 -- 63,909,826(-) T/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1002467642 -- 63,912,530(-) G/A upstream_transcript_variant

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

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

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)

Additional Variant Information for CSHL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CSHL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CSHL1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
isolated growth hormone deficiency, type ia
  • ighd1a
- elite association - COSMIC cancer census association via MalaCards
Search CSHL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSHL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CSHL1: view

No data available for 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 23 56
  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 43 56
  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 23 56
  4. The human growth hormone locus: nucleotide sequence, biology, and evolution. (PMID: 2744760) Chen EY … Seeburg PH (Genomics 1989) 3 4 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for CSHL1 Gene

Sources for CSHL1 Gene