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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CSHL1 Gene

protein-coding   GIFtS: 49
GCID: GC17M061986

chorionic somatomammotropin hormone-like 1


(Previous symbol: CSHP1)
 Explore 7 diseases affiliated with
CSHL1 via our new
 Human Malady Compendium 
Biological research products
for CSHL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chorionic Somatomammotropin Hormone-Like 11 2     MGC1498681
CSL1 2 3 5     Chorionic Somatomammotropin CS-52
CSHP11 2 3     Growth Hormone Cluster2
CS-51 2     Lactogen-Like1
HCS-L1     Chorionic Somatomammotropin-Like3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CSHL1:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CSHL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CSHL_HUMAN, Q14406 (See protein sequence)
Recommended Name: Chorionic somatomammotropin hormone-like 1 precursor  
Size: 222 amino acids; 25391 Da
Subcellular location: Secreted
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

CSHL1 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

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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Uscn Proteins for CSHL1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


CSHL1 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CSHL1 for domains           About GeneDecksing

4 InterPro domains/families:
 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 family: IPB001400 Somatotropin hormone

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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     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

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

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In Situ Assay
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005179hormone activity NAS2744760
GO:0046872metal ion binding IEA--


CSHL1 for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for CSHL1:
 Synthetic lethal with imatinib 


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Adipogenesis
Adipogenesis1.00
2Endochondral Ossification
Endochondral Ossification1.00


2 BioSystems Pathways for CSHL1 
    Adipogenesis
Endochondral Ossification


Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CSHL1

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

5 Interacting proteins for CSHL1 (Q144063 ENSP000003095244) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
MAML2Q8IZL23, ENSP000004123944I2D: score=1 STRING: ENSP00000412394
MAML3Q96JK93I2D: score=1 
GHRENSP000002308824STRING: ENSP00000230882
PRLRENSP000003714324STRING: ENSP00000371432
--ENSP000004084784STRING: ENSP00000408478
About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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


CSHL1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CSHL1
Search CenterWatch for drugs/clinical trials and news about CSHL1 / CSHL 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)


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Inhib. RNA
Products:
     
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Clone
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Additional cDNA sequence: 

AK300190.1 BC029365.1 BC119747.2 

24/40 DOTS entries (see all 40):

DT.92429752  DT.100059063  DT.40281707  DT.100715496  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.100767349  DT.100862539  DT.100867238  DT.120952050  DT.91721869  DT.95278460  DT.100715507 

24/33 AceView cDNA sequences (see all 33):

NM_022579 NM_022580 CR619210 CR592898 CR613079 CR625270 CR611059 CR625153 
CR607385 CR607774 CR605931 CR618037 CR616974 CR626319 CR614531 CR614856 
CR609317 CR617555 CR604383 CR594420 CR624740 CR592007 NM_001318 CR622660 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CSHL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See CSHL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CSHL1

SOURCE GeneReport for Unigene cluster: Hs.655225
    SABiosciences Custom PCR Arrays for CSHL1
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In Situ
Assay Products:
 

 
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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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CSHL1 gene from 3/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves SOMA_CHICK6
Somatotropin
50(a)
1 → many
27(1522166-1526523)
lizard
(Anolis carolinensis)
Reptilia --
--
43(a)
1 → many
6(63429195-63436554)
zebrafish
(Danio rerio)
Actinopterygii gh16
smtlb6
(see all 3)
somatolactin beta
(see all 3)
32(a)
21(a)
(see all 3)
1 ↔ many
possible ortholog
(see all 3)
3(22540799-22545974)
10(40678465-40685254)


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)
About This Section
Paralogs for CSHL1 gene
GH22  PRL2  CSH22  CSH12  GH12  
4 SIMAP similar genes for CSHL1 using alignment to 5 protein entries:     CSHL_HUMAN (see all proteins):
CSH1    CSH2    GH2    GH1

CSHL1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/219 NCBI SNPs in CSHL1 are shown (see all 219    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
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
--61986646(+) TTCTTC/TCCGCT 4 -- ds50010--------
rs1917385171,2
--61986655(+) CTCCTG/TGGGGG 4 -- ds50010--------

HapMap Linkage Disequilibrium report for CSHL1 (61986957 - 61996198 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for CSHL1: --

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(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.)
About This Section

CSHL1 for disorders           About GeneDecksing

OMIM gene information: 603515    OMIM disorders: --

7 diseases for CSHL1:    About MalaCards
isolated growth hormone deficiency, type ia    isolated growth hormone deficiency    growth hormone deficiency    trophoblastic neoplasm
epulis    choriocarcinoma    diarrhea

1 disease from the University of Copenhagen DISEASES database for CSHL1:
Diarrhea

1 Novoseek 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)

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)
About This Section

PubMed articles for CSHL1 gene, integrated from 9 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. (1994)
  2. The human growth hormone locus: nucleotide sequence, biology, and evolution. (PubMed id 2744760)1, 2 Chen E.Y....Seeburg P.H. (1989)
  3. 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. (1992)
  4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
  5. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (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. (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. (2004)
  8. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PubMed id 12370315)1 Wu L.... Griffin J.D. (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. (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. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 1444 HGNC: 2442 AceView: CSHL1 Ensembl:ENSG00000204414 euGenes: HUgn1444
ECgene: CSHL1 H-InvDB: CSHL1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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:
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