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

Gene ID: 1444, updated on 26-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

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

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