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CSHL1 Gene

protein-coding   GIFtS: 50
GCID: GC17M061986

Chorionic Somatomammotropin Hormone-Like 1


(Previous symbol: CSHP1)
  See CSHL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chorionic Somatomammotropin Hormone-Like 11 2     Growth Hormone Cluster2
CSHP11 2 3     hCS-L2
CSL2 3 5     Lactogen-like3
Chorionic Somatomammotropin CS-51 2     Chorionic Somatomammotropin-Like3
CS-52     

External Ids:    HGNC: 24421   Entrez Gene: 14442   Ensembl: ENSG000002044147   OMIM: 6035155   UniProtKB: Q144063   

Export aliases for CSHL1 gene to outside databases

Previous GC identifers: GC17U990018 GC17M064413 GC17M062327 GC17M062460 GC17M059305 GC17M059340 GC17M057354


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include hormone activity. An important paralog of this gene is GH2.

UniProtKB/Swiss-Prot: CSHL_HUMAN, Q14406
Function: May be a novel gestational hormone required to compensate for absence of other members of the GH/CS
cluster during gestation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSHL1 gene promoter:
         AhR   FOXO4   HFH-1   POU3F1   Lmo2   Hand1   E47   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSHL1 promoter sequence
   Search Chromatin IP Primers for CSHL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSHL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q22-q24

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M061986:  view genomic region     (about GC identifiers)

Start:
61,986,957 bp from pter      End:
61,996,198 bp from pter
Size:
9,242 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CSHL_HUMAN, Q14406 (See protein sequence)
Recommended Name: Chorionic somatomammotropin hormone-like 1 precursor  
Size: 222 amino acids; 25391 Da
Secondary accessions: D3DU26 D3DU27 Q0VDB2
Alternative splicing: 4 isoforms:  Q14406-1   Q14406-2   Q14406-3   Q14406-4   

Explore the universe of human proteins at neXtProt for CSHL1: NX_Q14406

Explore proteomics data for CSHL1 at MOPED


See CSHL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts): 
NP_001309.3  NP_072101.1  NP_072102.1  NP_072103.1  

ENSEMBL proteins: 
 ENSP00000452900   ENSP00000259003   ENSP00000402632   ENSP00000316360   ENSP00000413501  
 ENSP00000309524   ENSP00000376569  

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Search eBioscience for ELISAs for CSHL1 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:
 IPR018116 Somatotropin_CS
 IPR012351 4_helix_cytokine_core
 IPR009079 4_helix_cytokine-like_core
 IPR001400 Somatotropin

Graphical View of Domain Structure for InterPro Entry Q14406

ProtoNet protein and cluster: Q14406

1 Blocks protein domain: IPB001400 Somatotropin hormone

UniProtKB/Swiss-Prot: CSHL_HUMAN, Q14406
Similarity: Belongs to the somatotropin/prolactin family


Find genes that share domains with CSHL1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CSHL_HUMAN, Q14406
Function: May be a novel gestational hormone required to compensate for absence of other members of the GH/CS
cluster during gestation

     Genatlas biochemistry entry for CSHL1:
chorionic somatomammotropin hormone,like-sequence 1 (see GH@)

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005179hormone activity NAS2744760
GO:0046872metal ion binding IEA--
     
Find genes that share ontologies with CSHL1           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for CSHL1:
 Synthetic lethal with imatinib 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CSHL1
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   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSHL1

miRNA
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miRTarBase miRNAs that target CSHL1:
hsa-mir-16-5p (MIRT002476)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CSHL_HUMAN, Q14406: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005576extracellular region IEA--

Find genes that share ontologies with CSHL1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CSHL1
Interactions:

    Search GeneGlobe Interaction Network for CSHL1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

Selected Interacting proteins for CSHL1 (Q144063 ENSP000003095244) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
InteractantInteraction Details
GeneCardExternal ID(s)
MAML2Q8IZL23I2D: score=1 
MAML3Q96JK93I2D: score=1 
GHRENSP000002308824STRING: ENSP00000230882
PRLRENSP000003714324STRING: ENSP00000371432
--ENSP000004123944STRING: ENSP00000412394
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CSHL1 (CSHL)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CSHL1 gene (4 alternative transcripts): 
NM_001318.2  NM_022579.1  NM_022580.1  NM_022581.1  

Unigene Cluster for CSHL1:

Chorionic somatomammotropin hormone-like 1
Hs.655225  [show with all ESTs]
Unigene Representative Sequence: BX357092
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000561003 ENST00000259003(uc002jdc.1 uc002jdd.1) ENST00000438387
ENST00000346606(uc002jdb.1) ENST00000450719 ENST00000558099(uc002jda.1 uc002jcz.1)
ENST00000560999 ENST00000558609 ENST00000309894 ENST00000392824(uc021ubn.1)

miRNA
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GenScript: all cDNA clones in your preferred vector (see all 4): CSHL1 (NM_022579)
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Primer
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OriGene qPCR primer pairs and template standards for CSHL1
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Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CSHL1
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  QuantiFast Probe-based Assays in human, mouse, rat CSHL1

Additional mRNA sequence: 

AK300190.1 BC029365.1 BC119747.2 

Selected DOTS entries (see all 41):

DT.92429752  DT.100059063  DT.100715496  DT.40281707  DT.100651110  DT.100715552  DT.100838861  DT.92434084 
DT.100767045  DT.100851351  DT.100651113  DT.100766940  DT.120952077  DT.92061817  DT.100059909  DT.100651107 
DT.100715479  DT.100715568  DT.100767349  DT.100862539  DT.100867238  DT.120952050  DT.91721869  DT.95278460 

Selected AceView cDNA sequences (see all 33):

CR616974 CR619210 CR595432 CR625153 NM_022580 CR617555 CR618037 CR609317 
CR626319 CR592007 CR624740 CR604383 CR605931 CR624491 NM_001318 CR622660 
CR607962 CR600972 CR613079 CR594420 CR607385 CR590759 CR614856 CR625270 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CSHL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
CSHL1 Expression
About this image

CSHL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CSHL1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.655225
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for CSHL1 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gh1 growth hormone 72.87(n)
58.6(a)
  14599  NM_008117.3  NP_032143.1 
chicken
(Gallus gallus)
Aves GH1 growth hormone 65.28(n)
52.6(a)
  378781  NM_204359.2  NP_989690.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
43(a)
1 → many
6(63428935-63436554)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004925401 somatotropin-A-like 59.37(n)
47.4(a)
  100492540  XM_002933042.2  XP_002933088.2 
zebrafish
(Danio rerio)
Actinopterygii gh11 growth hormone 1 49.91(n)
36.87(a)
  407639  NM_001020492.2  NP_001018328.2 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CSHL1 gene
GH22  CSH22  CSH12  GH12  
4 SIMAP similar genes for CSHL1 using alignment to 5 protein entries:     CSHL_HUMAN (see all proteins):
CSH1    GH2    GH1    CSH2

Find genes that share paralogs with CSHL1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CSHL1 (see all 278)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1425161411,2
Cuntested161987475(+) CCCTCA/G/TAAGCC 4 -- int10--------
rs22463231,2
C,H--61986473(+) CTGGAT/ACCATA 4 -- ds50016Minor allele frequency- A:0.00NS EA NA 412
rs1428660711,2
--61986475(+) GGTTCC/TATATG 4 -- ds50010--------
rs1507799031,2
--61986476(+) GTTCCA/GTATGT 4 -- ds50010--------
rs1877266691,2
--61986498(+) TTTTGC/TATTGT 4 -- ds50010--------
rs22826771,2
C,A,H--61986539(-) GATGAG/ATATTC 4 -- ds50011Minor allele frequency- A:0.00NA 2
rs1909486601,2
--61986572(+) TAATTC/TTATGC 4 -- ds50010--------
rs1832718081,2
--61986573(+) AATTCG/TATGCC 4 -- ds50010--------
rs1441607431,2
--61986577(+) CTATGC/TCATTG 4 -- ds50010--------
rs1871418671,2
C--61986646(+) TTCTTC/TCCGCT 4 -- ds50010--------

HapMap Linkage Disequilibrium report for CSHL1 (61986957 - 61996198 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for CSHL1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2716099CNV Deletion23290073
nsv833510CNV Loss17160897
nsv833511CNV Loss17160897
nsv517272CNV Gain+Loss19592680

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CSHL1
DNA2.0 Custom Variant and Variant Library Synthesis for CSHL1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603515    OMIM disorders: --

2 diseases for CSHL1:    
About MalaCards
trophoblastic neoplasm    isolated growth hormone deficiency

2 diseases from the University of Copenhagen DISEASES database for CSHL1:
Chronic fatigue syndrome     Diarrhea

Find genes that share disorders with CSHL1           About GenesLikeMe

1 Novoseek inferred disease relationship for CSHL1 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
choriocarcinoma 53.9 2 7515000 (1)

Genetic Association Database (GAD): CSHL1
Human Genome Epidemiology (HuGE) Navigator: CSHL1 (3 documents)

Export disorders for CSHL1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CSHL1 gene, integrated from 10 sources (see all 23):
(articles sorted by number of sources associating them with CSHL1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complex alternative splicing partially inactivates the human chorionic somatomammotropin-like (hCS-L) gene. (PubMed id 8083227)1, 2, 3, 9 Misra-Press A.... Liebhaber S.A. (J. Biol. Chem. 1994)
  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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
  3. The human growth hormone locus: nucleotide sequence, biology, and evolution. (PubMed id 2744760)1, 2 Chen E.Y....Seeburg P.H. (Genomics 1989)
  4. Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. (PubMed id 1378436)1, 9 MacLeod J.N....Cooke N.E. (J. Biol. Chem. 1992)
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
  6. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  8. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PubMed id 12370315)1 Wu L.... Griffin J.D. (Mol. Cell. Biol. 2002)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  10. Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. (PubMed id 1980158)1 Vnencak-Jones C.L. and Phillips J.A. (Science 1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1444 HGNC: 2442 AceView: CSHL1 Ensembl:ENSG00000204414 euGenes: HUgn1444
ECgene: CSHL1 H-InvDB: CSHL1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CSHL1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CSHL1 gene:
Search GeneIP for patents involving CSHL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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