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2024-04-19 21:55:27, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199739 3957 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens cathepsin S (CTSS), transcript variant 2, mRNA.
ACCESSION NM_001199739
VERSION NM_001199739.1 GI:315075310
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3957)
AUTHORS Jobs,E., Riserus,U., Ingelsson,E., Sundstrom,J., Jobs,M.,
Nerpin,E., Iggman,D., Basu,S., Larsson,A., Lind,L. and Arnlov,J.
TITLE Serum cathepsin S is associated with decreased insulin sensitivity
and the development of type 2 diabetes in a community-based cohort
of elderly men
JOURNAL Diabetes Care 36 (1), 163-165 (2013)
PUBMED 22923671
REMARK GeneRIF: Cathepsin S activity appears to be involved in the early
dysregulation of glucose and insulin metabolism.
REFERENCE 2 (bases 1 to 3957)
AUTHORS Fan,Q., Wang,X., Zhang,H., Li,C., Fan,J. and Xu,J.
TITLE Silencing cathepsin S gene expression inhibits growth, invasion and
angiogenesis of human hepatocellular carcinoma in vitro
JOURNAL Biochem. Biophys. Res. Commun. 425 (4), 703-710 (2012)
PUBMED 22796222
REMARK GeneRIF: The present study was designed to determine the role of
Cat S in human hepatocellular carcinoma cell growth, invasion and
angiogenesis, using RNA interference technology.
REFERENCE 3 (bases 1 to 3957)
AUTHORS Sage,J., Leblanc-Noblesse,E., Nizard,C., Sasaki,T., Schnebert,S.,
Perrier,E., Kurfurst,R., Bromme,D., Lalmanach,G. and Lecaille,F.
TITLE Cleavage of nidogen-1 by cathepsin S impairs its binding to
basement membrane partners
JOURNAL PLoS ONE 7 (8), E43494 (2012)
PUBMED 22952693
REMARK GeneRIF: Cleavage of nidogen-1 by cathepsin S impairs its binding
to basement membrane partners
REFERENCE 4 (bases 1 to 3957)
AUTHORS Lv,B.J., Lindholt,J.S., Cheng,X., Wang,J. and Shi,G.P.
TITLE Plasma cathepsin S and cystatin C levels and risk of abdominal
aortic aneurysm: a randomized population-based study
JOURNAL PLoS ONE 7 (7), E41813 (2012)
PUBMED 22844527
REMARK GeneRIF: Correlation of plasma CatS and cystatin C with aortic
diameter
REFERENCE 5 (bases 1 to 3957)
AUTHORS Hooton,H., Angquist,L., Holst,C., Hager,J., Rousseau,F.,
Hansen,R.D., Tjonneland,A., Roswall,N., van der A,D.L., Overvad,K.,
Jakobsen,M.U., Boeing,H., Meidtner,K., Palli,D., Masala,G.,
Bouatia-Naji,N., Saris,W.H., Feskens,E.J., Wareham,N.J.,
Vimaleswaran,K.S., Langin,D., Loos,R.J., Sorensen,T.I. and
Clement,K.
TITLE Dietary factors impact on the association between CTSS variants and
obesity related traits
JOURNAL PLoS ONE 7 (7), E40394 (2012)
PUBMED 22844403
REMARK GeneRIF: CTSS variants seem to be nominally associated to obesity
related traits and this association may be modified by dietary
protein intake
REFERENCE 6 (bases 1 to 3957)
AUTHORS Munger,J.S., Haass,C., Lemere,C.A., Shi,G.P., Wong,W.S.,
Teplow,D.B., Selkoe,D.J. and Chapman,H.A.
TITLE Lysosomal processing of amyloid precursor protein to A beta
peptides: a distinct role for cathepsin S
JOURNAL Biochem. J. 311 (PT 1), 299-305 (1995)
PUBMED 7575468
REFERENCE 7 (bases 1 to 3957)
AUTHORS Lemere,C.A., Munger,J.S., Shi,G.P., Natkin,L., Haass,C.,
Chapman,H.A. and Selkoe,D.J.
TITLE The lysosomal cysteine protease, cathepsin S, is increased in
Alzheimer's disease and Down syndrome brain. An immunocytochemical
study
JOURNAL Am. J. Pathol. 146 (4), 848-860 (1995)
PUBMED 7717452
REFERENCE 8 (bases 1 to 3957)
AUTHORS Wiederanders,B., Bromme,D., Kirschke,H., von Figura,K., Schmidt,B.
and Peters,C.
TITLE Phylogenetic conservation of cysteine proteinases. Cloning and
expression of a cDNA coding for human cathepsin S
JOURNAL J. Biol. Chem. 267 (19), 13708-13713 (1992)
PUBMED 1377692
REFERENCE 9 (bases 1 to 3957)
AUTHORS Shi,G.P., Munger,J.S., Meara,J.P., Rich,D.H. and Chapman,H.A.
TITLE Molecular cloning and expression of human alveolar macrophage
cathepsin S, an elastinolytic cysteine protease
JOURNAL J. Biol. Chem. 267 (11), 7258-7262 (1992)
PUBMED 1373132
REFERENCE 10 (bases 1 to 3957)
AUTHORS Ritonja,A., Colic,A., Dolenc,I., Ogrinc,T., Podobnik,M. and Turk,V.
TITLE The complete amino acid sequence of bovine cathepsin S and a
partial sequence of bovine cathepsin L
JOURNAL FEBS Lett. 283 (2), 329-331 (1991)
PUBMED 2044774
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL356292.21 and AK301472.1.
Summary: The protein encoded by this gene, a member of the
peptidase C1 family, is a lysosomal cysteine proteinase that may
participate in the degradation of antigenic proteins to peptides
for presentation on MHC class II molecules. The encoded protein can
function as an elastase over a broad pH range in alveolar
macrophages. Alternatively spliced transcript variants encoding
distinct isoforms have been found for this gene. [provided by
RefSeq, Dec 2010].
Transcript Variant: This variant (2) lacks an in-frame exon in the
CDS, so encodes a shorter isoform (2), as compared to variant 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK301472.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-237 AL356292.21 118433-118669 c
238-1270 AK301472.1 73-1105
1271-3957 AL356292.21 82908-85594 c
FEATURES Location/Qualifiers
source 1..3957
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q21"
gene 1..3957
/gene="CTSS"
/note="cathepsin S"
/db_xref="GeneID:1520"
/db_xref="HGNC:2545"
/db_xref="MIM:116845"
exon 1..260
/gene="CTSS"
/inference="alignment:Splign:1.39.8"
misc_feature 193..195
/gene="CTSS"
/note="upstream in-frame stop codon"
variation 234
/gene="CTSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:3754212"
variation 237
/gene="CTSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1136774"
exon 261..387
/gene="CTSS"
/inference="alignment:Splign:1.39.8"
CDS 262..1107
/gene="CTSS"
/EC_number="3.4.22.27"
/note="isoform 2 preproprotein is encoded by transcript
variant 2"
/codon_start=1
/product="cathepsin S isoform 2 preproprotein"
/protein_id="NP_001186668.1"
/db_xref="GI:315075311"
/db_xref="CCDS:CCDS55634.1"
/db_xref="GeneID:1520"
/db_xref="HGNC:2545"
/db_xref="MIM:116845"
/translation="
MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNEEAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHLGDMGSCGACWAFSAVGALEAQLKLKTGKLVSLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYIIDNKGIDSDASYPYKAMDQKCQYDSKYRAATCSKYTELPYGREDVLKEAVANKGPVSVGVDARHPSFFLYRSGVYYEPSCTQNVNHGVLVVGYGDLNGKEYWLVKNSWGHNFGEEGYIRMARNKGNHCGIASFPSYPEI
"
sig_peptide 262..309
/gene="CTSS"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
proprotein 310..1104
/gene="CTSS"
/product="cathepsin S isoform 2 proprotein"
misc_feature 343..510
/gene="CTSS"
/note="Cathepsin propeptide inhibitor domain (I29);
Region: Inhibitor_I29; smart00848"
/db_xref="CDD:197916"
misc_feature 505..1098
/gene="CTSS"
/note="Peptidase C1A subfamily (MEROPS database
nomenclature); composed of cysteine peptidases (CPs)
similar to papain, including the mammalian CPs (cathepsins
B, C, F, H, L, K, O, S, V, X and W). Papain is an
endopeptidase with specific substrate preferences; Region:
Peptidase_C1A; cd02248"
/db_xref="CDD:30292"
misc_feature order(508..510,526..528,943..945,1003..1005)
/gene="CTSS"
/note="active site"
/db_xref="CDD:30292"
mat_peptide 604..1104
/gene="CTSS"
/product="cathepsin S isoform 2"
misc_feature order(661..666,862..864,937..939,946..948,1084..1086)
/gene="CTSS"
/note="S2 subsite; other site"
/db_xref="CDD:30292"
exon 388..510
/gene="CTSS"
/inference="alignment:Splign:1.39.8"
exon 511..738
/gene="CTSS"
/inference="alignment:Splign:1.39.8"
variation 592
/gene="CTSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1059604"
exon 739..904
/gene="CTSS"
/inference="alignment:Splign:1.39.8"
variation 810
/gene="CTSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1059605"
exon 905..1007
/gene="CTSS"
/inference="alignment:Splign:1.39.8"
exon 1008..3957
/gene="CTSS"
/inference="alignment:Splign:1.39.8"
STS 1124..1304
/gene="CTSS"
/standard_name="SHGC-35262"
/db_xref="UniSTS:60387"
STS 1136..1892
/gene="CTSS"
/standard_name="CTSS_573"
/db_xref="UniSTS:277137"
variation 1255
/gene="CTSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1141835"
variation 1351
/gene="CTSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:3208233"
variation 1413
/gene="CTSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:11542002"
STS 1501..1737
/gene="CTSS"
/standard_name="RH44919"
/db_xref="UniSTS:4239"
STS 1577..1737
/gene="CTSS"
/standard_name="RH80467"
/db_xref="UniSTS:84094"
STS 3811..3937
/gene="CTSS"
/standard_name="WI-18164"
/db_xref="UniSTS:17808"
variation 3912
/gene="CTSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1136808"
polyA_signal 3936..3941
/gene="CTSS"
polyA_signal 3940..3945
/gene="CTSS"
polyA_site 3957
/gene="CTSS"
ORIGIN
gacaagggctcttcttgatggcttactgtatccactttgtccccaagaccatagggaaatgactagaggtgactgtactagctagattttaaatgaaactgaaatgaaagttcacttcctcattttgagtacctcatgtgacaagttccaatttcttttcaagtcaattgaactgaaatctccttgttgctttgaaatcttagaagagagcccactaattcaaggactcttactgtgggagcaactgctggttctatcacaatgaaacggctggtttgtgtgctcttggtgtgctcctctgcagtggcacagttgcataaagatcctaccctggatcaccactggcatctctggaagaaaacctatggcaaacaatacaaggaaaagaatgaagaagcagtacgacgtctcatctgggaaaagaatctaaagtttgtgatgcttcacaacctggagcattcaatgggaatgcactcatacgatctgggcatgaaccacctgggagacatgggttcttgtggtgcttgctgggctttcagtgctgtgggggccctggaagcacagctgaagctgaaaacaggaaagctggtgtctctcagtgcccagaacctggtggattgctcaactgaaaaatatggaaacaaaggctgcaatggtggcttcatgacaacggctttccagtacatcattgataacaagggcatcgactcagacgcttcctatccctacaaagccatggatcagaaatgtcaatatgactcaaaatatcgtgctgccacatgttcaaagtacactgaacttccttatggcagagaagatgtcctgaaagaagctgtggccaataaaggcccagtgtctgttggtgtagatgcgcgtcatccttctttcttcctctacagaagtggtgtctactatgaaccatcctgtactcagaatgtgaatcatggtgtacttgtggttggctatggtgatcttaatgggaaagaatactggcttgtgaaaaacagctggggccacaactttggtgaagaaggatatattcggatggcaagaaataaaggaaatcattgtgggattgctagctttccctcttacccagaaatctagaggatctctcctttttataacaaatcaagaaatatgaagcactttctcttaacttaatttttcctgctgtatccagaagaaataattgtgtcatgattaatgtgtatttactgtactaattagaaaatatagtttgaggccgggcacggtggctcacgcctgtaatcccagtacttgggaggccaaggcaggcatatcaacttgaggccaggagttaaagagcagcctggctaacatggtgaaaccccatctctactaaaaatacaaaaaattagccgagcacggtggtgcatgcctgtaatcccagctacttgggaggctgaggcacgagattccttgaacccaagaggttgaggctatgttgagctgagatcacaccactgtactccagcctggatgacagagtggagactctgtttcaaaaaaacagaaaagaaaatatagtttgattcttcatttttttaaatttgcaaatctcaggataaagtttgctaagtaaattagtaatgtactatagatataactgtacaaaaattgttcaacctaaaacaatctgtaattgcttattgttttattgtatactctttgtctttttaagacccctaatagccttttgtaacttgatggcttaaaaatacttaataaatctgccatttcaaatttctatcattgccacataccattcttattcctaggcaactattaataatctatcctgagaatattaattgtggtattctggtgatggggtttagcaactttgatggaagaaaatattaggctataaatgtcctaaggactcagattgtatctttgtacagaagaggattcaaaacgccacgtgtagtggctcatgcctgtaatcccaacactttgggaggctgaagtaggaggatcgtcttgagcccaggagttcaagaccagcctggacaacatagtgagaccttgtctccacaaaaataaaaaagaaactatccaggagtggtggtgtgtgcctgtggtccctgctatgcagatgtctaagacaggaggatcacaagagcccaggaggttgagaatgcagtgagcttgtaattgcaccactgcactccagcctgggtgacagagcaagaccctgtcttaaaaaaagaggattcaacacatatttttatattatgttaaagtaaagaaatgcataaaagacaagcactttggaagaattattttaatgatcaacaatttaatgtattagtccaaattatttttacgtagtcatcaacaatttgaccagggcctttatttggcaaataactgagccaaccagaataaaataaccaatactccactgctcatatttttatctaattcagatggatcttccttacaactgctctagattagtagatgcatctaagcaggcagcaggaactttaaattttttaagttcatgtctatgacatgaacaatgtgtgggataatgtcattaatatatcctaaattaacctaaacgtatttcactaactctggctccttctccataaagcacattttaaggaacaagaattgctaaatataaaaacataaataataccataatacatggctatcatcaaaagtgtatagaatattatagtttaaaagtatttagttgattacttttcagttttgttttgttttttgagacggagtctcactctgttgcccaggctggagtgcagtggcaccatctcagttcactgcaacttctgcctcccgagttcaagcgattctcctgcctcagcctcccgagtagctggaattataggcgtgcaccaccacgcccagctaatttttgtatttttagtaaagacagggttttgccacattagccaggctggtctcaaactcctgacctcaggtgatccacccaccccagcctcccaaagtgctaagattacaggcgtgagccactgagcccagcctacttttcagtttttaacataatttttgttttatccacaacttttcaagtattgaaagtagaataaaaacatgggttcttagtctttagctatctgttaaagcctatgaatgccttcttaaaatcatgtttttaaatgcataaaatatataggattacaaaggaatctaattatatcgaaatacagttattaaaatgttaaaagataagtttgttatatattaatatgcatgcttctttataaatgcattaaataagagttaatagctatcctaaatttgaaatagtgataagcataatgaaaatagatgcaaaaaactaatgtgatatgaaaatatctgggtttttcttttgatgatgaagtattgctaatattaccgtggtttatgaactatgttcagaattgaagaaaatcctaactttcagttagaggttagtgacggggttcaggacaccctacacaaaatacagcactttgacatattgaatattttaagctgaaggcatttgaggaaattgcagaagcaggaaggtgactctgaccttctgcctgctgttctccccagaagcagccataaaacctgggaaggattttctgaccttcccctgaagtagatcataagactgtcatgtaagaggtgctctcctggcacccagagaaaaggagcatccttacctccaaaagcacagggacacaaagaggaatctaaacaaacaggcctctcagtttcccccagtttattacatttagcttgttcacactttgccctatgacatttctacatcactggctgctcttcatcaaacctactataaaaaacattcaagttcaactgtttctttgggcctttatttccttatggagcccctcgtgtcgtgtaaaacttatattaaataaatgtgcatgcttt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1520 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: TAS
GeneID:1520 -> Biological process: GO:0002224 [toll-like receptor signaling pathway] evidence: TAS
GeneID:1520 -> Biological process: GO:0002250 [adaptive immune response] evidence: IEP
GeneID:1520 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
GeneID:1520 -> Biological process: GO:0002480 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent] evidence: TAS
GeneID:1520 -> Biological process: GO:0006508 [proteolysis] evidence: IEA
GeneID:1520 -> Biological process: GO:0006955 [immune response] evidence: TAS
GeneID:1520 -> Biological process: GO:0019882 [antigen processing and presentation] evidence: TAS
GeneID:1520 -> Biological process: GO:0019886 [antigen processing and presentation of exogenous peptide antigen via MHC class II] evidence: TAS
GeneID:1520 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS
GeneID:1520 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:1520 -> Biological process: GO:0097067 [cellular response to thyroid hormone stimulus] evidence: IEP
GeneID:1520 -> Cellular component: GO:0005576 [extracellular region] evidence: NAS
GeneID:1520 -> Cellular component: GO:0005764 [lysosome] evidence: IDA
GeneID:1520 -> Cellular component: GO:0005764 [lysosome] evidence: NAS
GeneID:1520 -> Cellular component: GO:0016020 [membrane] evidence: IEA
GeneID:1520 -> Cellular component: GO:0036021 [endolysosome lumen] evidence: TAS
GeneID:1520 -> Cellular component: GO:0043202 [lysosomal lumen] evidence: TAS
GeneID:1520 -> Cellular component: GO:0043231 [intracellular membrane-bounded organelle] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001186668 -> EC 3.4.22.27
by
@meso_cacase at
DBCLS
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