CSHL_HUMAN
ID CSHL_HUMAN Reviewed; 222 AA.
AC Q14406; D3DU26; D3DU27; Q0VDB2;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Chorionic somatomammotropin hormone-like 1;
DE Short=Chorionic somatomammotropin-like;
DE AltName: Full=Lactogen-like;
DE Flags: Precursor;
GN Name=CSHL1; Synonyms=CSHP1, CSL;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Placenta;
RX PubMed=2744760; DOI=10.1016/0888-7543(89)90271-1;
RA Chen E.Y., Liao Y.C., Smith D.H., Barrera-Saldana H.A., Gelinas R.E.,
RA Seeburg P.H.;
RT "The human growth hormone locus: nucleotide sequence, biology, and
RT evolution.";
RL Genomics 4:479-497(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1; 2 AND
RP 3), FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=8083227; DOI=10.1016/s0021-9258(17)31642-3;
RA Misra-Press A., Cooke N.E., Liebhaber S.A.;
RT "Complex alternative splicing partially inactivates the human chorionic
RT somatomammotropin-like (hCS-L) gene.";
RL J. Biol. Chem. 269:23220-23229(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANT GLU-141.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May be a novel gestational hormone required to compensate for
CC absence of other members of the GH/CS cluster during gestation.
CC {ECO:0000269|PubMed:8083227}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8083227}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q14406-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q14406-2; Sequence=VSP_040116;
CC Name=3;
CC IsoId=Q14406-3; Sequence=VSP_040115;
CC Name=4;
CC IsoId=Q14406-4; Sequence=VSP_040114;
CC -!- SIMILARITY: Belongs to the somatotropin/prolactin family.
CC {ECO:0000305}.
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DR EMBL; J03071; AAA52550.1; -; Genomic_DNA.
DR EMBL; AC127029; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471109; EAW94245.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94246.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94253.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94264.1; -; Genomic_DNA.
DR EMBL; BC119747; AAI19748.1; -; mRNA.
DR CCDS; CCDS11652.1; -. [Q14406-1]
DR CCDS; CCDS42370.1; -. [Q14406-4]
DR CCDS; CCDS45759.1; -. [Q14406-3]
DR PIR; B32435; B32435.
DR RefSeq; NP_072101.1; NM_022579.2. [Q14406-1]
DR RefSeq; NP_072102.1; NM_022580.2. [Q14406-3]
DR RefSeq; NP_072103.1; NM_022581.2. [Q14406-2]
DR AlphaFoldDB; Q14406; -.
DR SMR; Q14406; -.
DR BioGRID; 107831; 5.
DR IntAct; Q14406; 3.
DR MINT; Q14406; -.
DR STRING; 9606.ENSP00000309524; -.
DR BioMuta; CSHL1; -.
DR DMDM; 313104096; -.
DR jPOST; Q14406; -.
DR MassIVE; Q14406; -.
DR PaxDb; Q14406; -.
DR PeptideAtlas; Q14406; -.
DR PRIDE; Q14406; -.
DR ProteomicsDB; 59980; -. [Q14406-1]
DR ProteomicsDB; 59981; -. [Q14406-2]
DR ProteomicsDB; 59982; -. [Q14406-3]
DR ProteomicsDB; 59983; -. [Q14406-4]
DR Antibodypedia; 31484; 168 antibodies from 24 providers.
DR DNASU; 1444; -.
DR Ensembl; ENST00000309894.6; ENSP00000309524.5; ENSG00000204414.14. [Q14406-1]
DR Ensembl; ENST00000346606.10; ENSP00000316360.10; ENSG00000204414.14. [Q14406-4]
DR Ensembl; ENST00000438387.6; ENSP00000402632.2; ENSG00000204414.14. [Q14406-3]
DR GeneID; 1444; -.
DR KEGG; hsa:1444; -.
DR MANE-Select; ENST00000309894.6; ENSP00000309524.5; NM_022579.3; NP_072101.1.
DR UCSC; uc002jda.2; human. [Q14406-1]
DR CTD; 1444; -.
DR DisGeNET; 1444; -.
DR GeneCards; CSHL1; -.
DR HGNC; HGNC:2442; CSHL1.
DR HPA; ENSG00000204414; Tissue enriched (placenta).
DR MIM; 603515; gene.
DR neXtProt; NX_Q14406; -.
DR OpenTargets; ENSG00000204414; -.
DR PharmGKB; PA26945; -.
DR VEuPathDB; HostDB:ENSG00000204414; -.
DR eggNOG; ENOG502R5GJ; Eukaryota.
DR GeneTree; ENSGT00950000182818; -.
DR HOGENOM; CLU_088274_2_0_1; -.
DR InParanoid; Q14406; -.
DR OMA; MEAYITK; -.
DR OrthoDB; 1190548at2759; -.
DR PhylomeDB; Q14406; -.
DR TreeFam; TF332592; -.
DR PathwayCommons; Q14406; -.
DR SignaLink; Q14406; -.
DR BioGRID-ORCS; 1444; 14 hits in 1053 CRISPR screens.
DR GenomeRNAi; 1444; -.
DR Pharos; Q14406; Tbio.
DR PRO; PR:Q14406; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q14406; protein.
DR Bgee; ENSG00000204414; Expressed in placenta and 26 other tissues.
DR ExpressionAtlas; Q14406; baseline and differential.
DR Genevisible; Q14406; HS.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0031982; C:vesicle; IEA:UniProt.
DR GO; GO:0008083; F:growth factor activity; IBA:GO_Central.
DR GO; GO:0005131; F:growth hormone receptor binding; IBA:GO_Central.
DR GO; GO:0005179; F:hormone activity; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0048513; P:animal organ development; IBA:GO_Central.
DR GO; GO:0060396; P:growth hormone receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0045927; P:positive regulation of growth; IBA:GO_Central.
DR GO; GO:0046427; P:positive regulation of receptor signaling pathway via JAK-STAT; IBA:GO_Central.
DR GO; GO:0042531; P:positive regulation of tyrosine phosphorylation of STAT protein; IBA:GO_Central.
DR GO; GO:0031667; P:response to nutrient levels; IBA:GO_Central.
DR Gene3D; 1.20.1250.10; -; 1.
DR InterPro; IPR009079; 4_helix_cytokine-like_core.
DR InterPro; IPR001400; Somatotropin/Prolactin.
DR InterPro; IPR018116; Somatotropin_CS.
DR PANTHER; PTHR11417; PTHR11417; 1.
DR Pfam; PF00103; Hormone_1; 1.
DR PRINTS; PR00836; SOMATOTROPIN.
DR SUPFAM; SSF47266; SSF47266; 1.
DR PROSITE; PS00338; SOMATOTROPIN_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; Hormone; Metal-binding;
KW Reference proteome; Secreted; Signal; Zinc.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..222
FT /note="Chorionic somatomammotropin hormone-like 1"
FT /id="PRO_0000032959"
FT BINDING 44
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000250"
FT BINDING 205
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000250"
FT DISULFID 213..220
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..94
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040114"
FT VAR_SEQ 4..86
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_040115"
FT VAR_SEQ 64..86
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_040116"
FT VARIANT 141
FT /note="D -> E (in dbSNP:rs2727307)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_059807"
SQ SEQUENCE 222 AA; 25391 MW; E450E16D4731813A CRC64;
MAAGSRTSLL LAFALLCLPW LQEAGAVQTV PLSRLFKEAM LQAHRAHQLA IDTYQEFISS
WGMEAYITKE QKYSFLHDSQ TSFCFSDSIP TSSNMEETQQ KSNLELLHIS LLLIESRLEP
VRFLRSTFTN NLVYDTSDSD DYHLLKDLEE GIQMLMGRLE DGSHLTGQTL KQTYSKFDTN
SHNHDALLKN YGLLHCFRKD MDKVETFLRM VQCRSVEGSC GF
