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    CSHL1 chorionic somatomammotropin hormone like 1 [ Homo sapiens (human) ]

    Gene ID: 1444, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CSHL1provided by HGNC
    Official Full Name
    chorionic somatomammotropin hormone like 1provided by HGNC
    Primary source
    HGNC:HGNC:2442
    See related
    Ensembl:ENSG00000204414 MIM:603515; AllianceGenome:HGNC:2442
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSL; CS-5; GHB4; CSHP1; hCS-L
    Summary
    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]
    Expression
    Restricted expression toward placenta (RPKM 201.6) See more
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    Genomic context

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    See CSHL1 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63909608..63911258, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64780351..64782005, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61986968..61988618, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61958700-61959660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8834 Neighboring gene growth hormone 2 Neighboring gene chorionic somatomammotropin hormone 1 Neighboring gene IGHD type 1A-1 recombination region Neighboring gene uncharacterized LOC112268204 Neighboring gene IGHD type 1A-2 recombination region Neighboring gene growth hormone locus control region Neighboring gene growth hormone 1 Neighboring gene CD79b molecule

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Complex alternative splicing partially inactivates the human chorionic somatomammotropin-like (hCS-L) gene. Misra-Press A, et al. J Biol Chem, 1994 Sep 16. PMID 8083227
    2. The human growth hormone gene locus: structure, evolution, and allelic variations. Hirt H, et al. DNA, 1987 Feb. PMID 3030680
    3. Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. MacLeod JN, et al. J Biol Chem, 1992 Jul 15. PMID 1378436
    4. The human growth hormone locus: nucleotide sequence, biology, and evolution. Chen EY, et al. Genomics, 1989 May. PMID 2744760
    5. Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. Vnencak-Jones CL, et al. Science, 1990 Dec 21. PMID 1980158

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149868

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables growth hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hormone activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in growth hormone receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to nutrient levels IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    chorionic somatomammotropin hormone-like 1
    Names
    chorionic somatomammotropin CS-5
    epididymis secretory sperm binding protein
    growth hormone B4
    growth hormone cluster

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001318.4 → NP_001309.3  chorionic somatomammotropin hormone-like 1 isoform 3

      See identical proteins and their annotated locations for NP_001309.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as CS-1-3N-4-5, has multiple differences in the coding region, but maintains the reading frame, compared to variant 1. The predicted isoform 3 has a shorter N-terminus and lacks a signal sequence, compared to isoform 1. This variant is the predominant transcript.
      Source sequence(s)
      BC029365
      Consensus CDS
      CCDS42370.1
      UniProtKB/TrEMBL
      A0A087WUG6, I6L999
      Related
      ENSP00000316360.10, ENST00000346606.10
      Conserved Domains (1) summary
      cl07831
      Location:2 → 126
      growth_hormone_like; Somatotropin/prolactin hormone family

    2. NM_001321067.2 → NP_001307996.1  chorionic somatomammotropin hormone-like 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC127029, BU752103, BX382469
      UniProtKB/TrEMBL
      P78451
      Conserved Domains (1) summary
      cd10285
      Location:4 → 160
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

    3. NM_001321068.2 → NP_001307997.1  chorionic somatomammotropin hormone-like 1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      BX382469, DR004701
      Consensus CDS
      CCDS82189.1
      UniProtKB/TrEMBL
      A0A0B4J1R0, H0YM39
      Related
      ENSP00000259003.10, ENST00000259003.14
      Conserved Domains (1) summary
      cl07831
      Location:25 → 158
      growth_hormone_like; Somatotropin/prolactin hormone family

    4. NM_001321069.2 → NP_001307998.1  chorionic somatomammotropin hormone-like 1 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      BU752103, BX382469, BX426214
      UniProtKB/TrEMBL
      A0A0M6L0I9
      Conserved Domains (1) summary
      cd10285
      Location:24 → 181
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

    5. NM_022579.3 → NP_072101.1  chorionic somatomammotropin hormone-like 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_072101.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as CS-L(L'), represents the longest transcript, and encodes the longest isoform (1).
      Source sequence(s)
      AC127029, BC029365, BG003306, BX382469
      Consensus CDS
      CCDS11652.1
      UniProtKB/Swiss-Prot
      D3DU26, D3DU27, Q0VDB2, Q14406
      UniProtKB/TrEMBL
      A0A0M6L0I9
      Related
      ENSP00000309524.5, ENST00000309894.6
      Conserved Domains (1) summary
      cd10285
      Location:35 → 220
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

    6. NM_022580.3 → NP_072102.1  chorionic somatomammotropin hormone-like 1 isoform 4

      See identical proteins and their annotated locations for NP_072102.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also known as CS-1-3L-4-5, lacks an in-frame segment of the coding region, compared to variant 1. The resulting isoform (4) has a distinct N-terminus, which does not contain a signal peptide, compared to isoform 1.
      Source sequence(s)
      AC127029, BU752103
      Consensus CDS
      CCDS45759.1
      UniProtKB/TrEMBL
      A0A087WUG6
      Related
      ENSP00000402632.2, ENST00000438387.6
      Conserved Domains (1) summary
      cl07831
      Location:4 → 137
      growth_hormone_like; Somatotropin/prolactin hormone family

    7. NM_022581.3 → NP_072103.1  chorionic somatomammotropin hormone-like 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_072103.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as CS-L(L), lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (2), that is missing an internal segment compared to isoform 1.
      Source sequence(s)
      AC127029, BU752103
      UniProtKB/TrEMBL
      A0A0M6L0I9, A0A384N655
      Conserved Domains (1) summary
      cl07831
      Location:35 → 197
      growth_hormone_like; Somatotropin/prolactin hormone family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63909608..63911258 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524346.3 → XP_011522648.1  chorionic somatomammotropin hormone-like 1 isoform X2

      UniProtKB/TrEMBL
      H0YKQ4
      Related
      ENSP00000452900.1, ENST00000561003.5
      Conserved Domains (1) summary
      cl07831
      Location:4 → 112
      growth_hormone_like; Somatotropin/prolactin hormone family

    2. XM_011524344.2 → XP_011522646.1  chorionic somatomammotropin hormone-like 1 isoform X1

      UniProtKB/TrEMBL
      A6NFB4, D3DU25
      Conserved Domains (1) summary
      cl07831
      Location:35 → 172
      growth_hormone_like; Somatotropin/prolactin hormone family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64780351..64782005 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315096.1 → XP_054171071.1  chorionic somatomammotropin hormone-like 1 isoform X2

    2. XM_054315095.1 → XP_054171070.1  chorionic somatomammotropin hormone-like 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14406.2 GenPept UniProtKB/Swiss-Prot:Q14406

    Gene LinkOut

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