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2024-04-20 04:47:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004390 1494 bp mRNA linear PRI 11-MAY-2013
DEFINITION Homo sapiens cathepsin H (CTSH), mRNA.
ACCESSION NM_004390
VERSION NM_004390.3 GI:148536857
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 1494)
AUTHORS Jevnikar,Z., Rojnik,M., Jamnik,P., Doljak,B., Fonovic,U.P. and
Kos,J.
TITLE Cathepsin H mediates the processing of talin and regulates
migration of prostate cancer cells
JOURNAL J. Biol. Chem. 288 (4), 2201-2209 (2013)
PUBMED 23204516
REMARK GeneRIF: CtsH-mediated processing of talin might promote cancer
cell progression by affecting integrin alphaVbeta3 activation and
adhesion strength
REFERENCE 2 (bases 1 to 1494)
AUTHORS Rojnik,M., Jevnikar,Z.R., Doljak,B., Turk,S., Zidar,N. and Kos,J.
TITLE The influence of differential processing of procathepsin H on its
aminopeptidase activity, secretion and subcellular localization in
human cell lines
JOURNAL Eur. J. Cell Biol. 91 (10), 757-764 (2012)
PUBMED 22704610
REMARK GeneRIF: The processing of procathepsin H is an autocatalytic,
multistep process proceeding from an inactive 41kDa pro-form,
through a 30kDa intermediate form, to the 28kDa mature form.
REFERENCE 3 (bases 1 to 1494)
AUTHORS Yosifova,A., Mushiroda,T., Kubo,M., Takahashi,A., Kamatani,Y.,
Kamatani,N., Stoianov,D., Vazharova,R., Karachanak,S.,
Zaharieva,I., Dimova,I., Hadjidekova,S., Milanova,V., Madjirova,N.,
Gerdjikov,I., Tolev,T., Poryazova,N., O'Donovan,M.C., Owen,M.J.,
Kirov,G., Toncheva,D. and Nakamura,Y.
TITLE Genome-wide association study on bipolar disorder in the Bulgarian
population
JOURNAL Genes Brain Behav. 10 (7), 789-797 (2011)
PUBMED 21771265
REFERENCE 4 (bases 1 to 1494)
AUTHORS Wu,S.M., Huang,Y.H., Yeh,C.T., Tsai,M.M., Liao,C.H., Cheng,W.L.,
Chen,W.J. and Lin,K.H.
TITLE Cathepsin H regulated by the thyroid hormone receptors associate
with tumor invasion in human hepatoma cells
JOURNAL Oncogene 30 (17), 2057-2069 (2011)
PUBMED 21217776
REMARK GeneRIF: CTSH overexpression in a subset hepatoma may be thyroid
hormone receptor dependent and suggests that this overexpression
has an important role in hepatoma progression.
REFERENCE 5 (bases 1 to 1494)
AUTHORS Peri,P., Nuutila,K., Vuorinen,T., Saukko,P. and Hukkanen,V.
TITLE Cathepsins are involved in virus-induced cell death in ICP4 and Us3
deletion mutant herpes simplex virus type 1-infected monocytic
cells
JOURNAL J. Gen. Virol. 92 (PT 1), 173-180 (2011)
PUBMED 20881085
REMARK GeneRIF: These data indicate that cathepsins B, L and S may act as
cell-death mediators in in monocytic cells infected with ICP4 and
Us3 deletion mutant herpes simplex virus type 1.
REFERENCE 6 (bases 1 to 1494)
AUTHORS Cataldo,A.M., Paskevich,P.A., Kominami,E. and Nixon,R.A.
TITLE Lysosomal hydrolases of different classes are abnormally
distributed in brains of patients with Alzheimer disease
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88 (24), 10998-11002 (1991)
PUBMED 1837142
REMARK Erratum:[Proc Natl Acad Sci U S A 1992 Mar 15;89(6):2509]
REFERENCE 7 (bases 1 to 1494)
AUTHORS Fuchs,R. and Gassen,H.G.
TITLE Nucleotide sequence of human preprocathepsin H, a lysosomal
cysteine proteinase
JOURNAL Nucleic Acids Res. 17 (22), 9471 (1989)
PUBMED 2587265
REFERENCE 8 (bases 1 to 1494)
AUTHORS Chernaia,V.I. and Reva,A.D.
TITLE [Cathepsin H activity in the human brain and human brain neoplasms]
JOURNAL Ukr. Biokhim. Zh. 61 (5), 47-50 (1989)
PUBMED 2588347
REFERENCE 9 (bases 1 to 1494)
AUTHORS Sawicki,G. and Warwas,M.
TITLE Cathepsin H from human placenta
JOURNAL Acta Biochim. Pol. 36 (3-4), 343-351 (1989)
PUBMED 2486008
REFERENCE 10 (bases 1 to 1494)
AUTHORS Fuchs,R., Machleidt,W. and Gassen,H.G.
TITLE Molecular cloning and sequencing of a cDNA coding for mature human
kidney cathepsin H
JOURNAL Biol. Chem. Hoppe-Seyler 369 (6), 469-475 (1988)
PUBMED 2849458
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC011944.12, AF426247.1,
BC018821.2 and AI057198.1.
This sequence is a reference standard in the RefSeqGene project.
On Jun 1, 2007 this sequence version replaced gi:23110954.
Summary: The protein encoded by this gene is a lysosomal cysteine
proteinase important in the overall degradation of lysosomal
proteins. It is composed of a dimer of disulfide-linked heavy and
light chains, both produced from a single protein precursor. The
encoded protein, which belongs to the peptidase C1 protein family,
can act both as an aminopeptidase and as an endopeptidase.
Increased expression of this gene has been correlated with
malignant progression of prostate tumors. [provided by RefSeq, Mar
2010].
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 :: AK130158.1, BC002479.2 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-97 AC011944.12 81276-81372
98-555 AF426247.1 1-458
556-948 BC018821.2 520-912
949-1105 AF426247.1 852-1008
1106-1494 AI057198.1 1-389 c
FEATURES Location/Qualifiers
source 1..1494
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q25.1"
gene 1..1494
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/note="cathepsin H"
/db_xref="GeneID:1512"
/db_xref="HGNC:2535"
/db_xref="HPRD:00288"
/db_xref="MIM:116820"
exon 1..188
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
CDS 98..1105
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/EC_number="3.4.22.16"
/note="aleurain; cathepsin B3; cathepsin BA;
N-benzoylarginine-beta-naphthylamide hydrolase;
pro-cathepsin H"
/codon_start=1
/product="pro-cathepsin H preproprotein"
/protein_id="NP_004381.2"
/db_xref="GI:23110955"
/db_xref="CCDS:CCDS10308.1"
/db_xref="GeneID:1512"
/db_xref="HGNC:2535"
/db_xref="HPRD:00288"
/db_xref="MIM:116820"
/translation="
MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV
"
sig_peptide 98..163
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
proprotein 164..1102
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/product="cathepsin H proprotein"
misc_feature 200..367
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/note="Cathepsin propeptide inhibitor domain (I29);
Region: Inhibitor_I29; pfam08246"
/db_xref="CDD:203889"
misc_feature 200..364
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/note="Cathepsin propeptide inhibitor domain (I29). This
domain is found at the N-terminus of some C1 peptidases
such as Cathepsin L where it acts as a propeptide; Region:
Inhibitor_I29"
mat_peptide 443..1102
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/product="cathepsin H"
mat_peptide 443..973
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/product="cathepsin H heavy chain"
misc_feature 446..1090
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/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); Region:
Peptidase_C1A"
misc_feature 446..1090
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/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(500..502,518..520,938..940,998..1000)
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/note="active site"
/db_xref="CDD:30292"
misc_feature order(650..655,851..853,932..934,941..943,1076..1078)
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/note="S2 subsite; other site"
/db_xref="CDD:30292"
mat_peptide 974..1102
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/product="cathepsin H light chain"
variation 164
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="a"
/replace="g"
/db_xref="dbSNP:35001431"
exon 189..220
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
exon 221..326
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
exon 327..397
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
exon 398..502
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
exon 503..589
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
variation 556
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="a"
/replace="g"
/db_xref="dbSNP:13345"
exon 590..645
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
variation 632
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="c"
/replace="t"
/db_xref="dbSNP:1130856"
exon 646..727
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
exon 728..796
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
exon 797..903
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
exon 904..1029
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
variation 954
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="g"
/replace="t"
/db_xref="dbSNP:201599593"
exon 1030..1485
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/inference="alignment:Splign:1.39.8"
variation 1046
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="c"
/replace="t"
/db_xref="dbSNP:11558397"
variation 1140
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="g"
/replace="t"
/db_xref="dbSNP:10941"
variation 1148
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:12549"
STS 1159..1394
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/standard_name="STS-X16832"
/db_xref="UniSTS:53095"
STS 1220..1380
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/standard_name="D15S1349"
/db_xref="UniSTS:79001"
STS 1220..1371
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/standard_name="D2S2841"
/db_xref="UniSTS:3710"
variation 1222
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="c"
/replace="t"
/db_xref="dbSNP:3190415"
variation 1269
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="a"
/replace="g"
/db_xref="dbSNP:4987055"
variation 1274
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="a"
/replace="c"
/db_xref="dbSNP:3190431"
variation 1300
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="a"
/replace="g"
/db_xref="dbSNP:4987056"
variation 1334
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="c"
/replace="t"
/db_xref="dbSNP:3190457"
STS 1346..1462
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/standard_name="G54095"
/db_xref="UniSTS:109332"
variation 1418
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="c"
/replace="t"
/db_xref="dbSNP:1050186"
variation 1423
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
/replace="c"
/replace="t"
/db_xref="dbSNP:4987057"
polyA_signal 1438..1443
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
polyA_site 1485
/gene="CTSH"
/gene_synonym="ACC-4; ACC-5; CPSB; minichain"
ORIGIN
ccacgctcgtgccgctccccccccgcgctcccagttgacgctctgggccgccacctccgcggaccctgagcgcaagagccaagccgccagcgctgcgatgtgggccacgctgccgctgctctgcgccggggcctggctcctgggagtccccgtctgcggtgccgccgaactgtgcgtgaactccttagagaagtttcacttcaagtcatggatgtctaagcaccgtaagacctacagtacggaggagtaccaccacaggctgcagacgtttgccagcaactggaggaagataaacgcccacaacaatgggaaccacacatttaaaatggcactgaaccaattttcagacatgagctttgctgaaataaaacacaagtatctctggtcagagcctcagaattgctcagccaccaaaagtaactaccttcgaggtactggtccctacccaccttccgtggactggcggaaaaaaggaaattttgtctcacctgtgaaaaatcagggtgcctgcggcagttgctggactttctccaccactggggccctggagtctgcgatcgccatcgcaaccggaaagatgctgtccttggcggaacagcagctggtggactgcgcccaggacttcaataatcacggctgccaagggggtctccccagccaggctttcgagtatatcctgtacaacaaggggatcatgggtgaagacacctacccctaccagggcaaggatggttattgcaagttccaacctggaaaggccatcggctttgtcaaggatgtagccaacatcacaatctatgacgaggaagcgatggtggaggctgtggccctctacaaccctgtgagctttgcctttgaggtgactcaggacttcatgatgtatagaacgggcatctactccagtacttcctgccataaaactccagataaagtaaaccatgcagtactggctgttgggtatggagaaaaaaatgggatcccttactggatcgtgaaaaactcttggggtccccagtggggaatgaacgggtacttcctcatcgagcgcggaaagaacatgtgtggcctggctgcctgcgcctcctaccccatccctctggtgtgagccgtggcagccgcagcgcagactggcggagaaggagaggaacgggcagcctgggcctgggtggaaatcctgccctggaggaagttgtggggagatccactgggacccccaacattctgccctcacctctgtgcccagcctggaaacctacagacaaggaggagttccaccatgagctcacccgtgtctatgacgcaaagatcaccagccatgtgccttagtgtccttcttaacagactcaaaccacatggaccacgaatattctttctgtccagaagggctactttccacatatagagctccagggactgtcttttctgtattcgctgttcaataaacattgagtgagcacctccccagatggagcatgctggtcctggaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1512 -> Molecular function: GO:0004175 [endopeptidase activity] evidence: IDA
GeneID:1512 -> Molecular function: GO:0004177 [aminopeptidase activity] evidence: IDA
GeneID:1512 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: IDA
GeneID:1512 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: TAS
GeneID:1512 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: ISS
GeneID:1512 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:1512 -> Molecular function: GO:0008233 [peptidase activity] evidence: IDA
GeneID:1512 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: IDA
GeneID:1512 -> Molecular function: GO:0016505 [peptidase activator activity involved in apoptotic process] evidence: IDA
GeneID:1512 -> Molecular function: GO:0030108 [HLA-A specific activating MHC class I receptor activity] evidence: IDA
GeneID:1512 -> Molecular function: GO:0030984 [kininogen binding] evidence: IEA
GeneID:1512 -> Molecular function: GO:0032403 [protein complex binding] evidence: IEA
GeneID:1512 -> Molecular function: GO:0043621 [protein self-association] evidence: IEA
GeneID:1512 -> Molecular function: GO:0070324 [thyroid hormone binding] evidence: IDA
GeneID:1512 -> Biological process: GO:0001656 [metanephros development] evidence: ISS
GeneID:1512 -> Biological process: GO:0001913 [T cell mediated cytotoxicity] evidence: ISS
GeneID:1512 -> Biological process: GO:0002250 [adaptive immune response] evidence: IEP
GeneID:1512 -> Biological process: GO:0002764 [immune response-regulating signaling pathway] evidence: IDA
GeneID:1512 -> Biological process: GO:0006508 [proteolysis] evidence: IDA
GeneID:1512 -> Biological process: GO:0006508 [proteolysis] evidence: TAS
GeneID:1512 -> Biological process: GO:0006915 [apoptotic process] evidence: IDA
GeneID:1512 -> Biological process: GO:0007283 [spermatogenesis] evidence: IEA
GeneID:1512 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: ISS
GeneID:1512 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: IDA
GeneID:1512 -> Biological process: GO:0010634 [positive regulation of epithelial cell migration] evidence: ISS
GeneID:1512 -> Biological process: GO:0010813 [neuropeptide catabolic process] evidence: IDA
GeneID:1512 -> Biological process: GO:0010815 [bradykinin catabolic process] evidence: IDA
GeneID:1512 -> Biological process: GO:0010952 [positive regulation of peptidase activity] evidence: IDA
GeneID:1512 -> Biological process: GO:0019882 [antigen processing and presentation] evidence: TAS
GeneID:1512 -> Biological process: GO:0030335 [positive regulation of cell migration] evidence: IDA
GeneID:1512 -> Biological process: GO:0031638 [zymogen activation] evidence: IDA
GeneID:1512 -> Biological process: GO:0031648 [protein destabilization] evidence: IMP
GeneID:1512 -> Biological process: GO:0032526 [response to retinoic acid] evidence: ISS
GeneID:1512 -> Biological process: GO:0033619 [membrane protein proteolysis] evidence: IDA
GeneID:1512 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: ISS
GeneID:1512 -> Biological process: GO:0043129 [surfactant homeostasis] evidence: IDA
GeneID:1512 -> Biological process: GO:0045766 [positive regulation of angiogenesis] evidence: ISS
GeneID:1512 -> Biological process: GO:0060448 [dichotomous subdivision of terminal units involved in lung branching] evidence: ISS
GeneID:1512 -> Biological process: GO:0070371 [ERK1 and ERK2 cascade] evidence: IDA
GeneID:1512 -> Biological process: GO:0097067 [cellular response to thyroid hormone stimulus] evidence: IEP
GeneID:1512 -> Cellular component: GO:0001520 [outer dense fiber] evidence: IEA
GeneID:1512 -> Cellular component: GO:0001669 [acrosomal vesicle] evidence: IEA
GeneID:1512 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
GeneID:1512 -> Cellular component: GO:0005764 [lysosome] evidence: IDA
GeneID:1512 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
GeneID:1512 -> Cellular component: GO:0097208 [alveolar lamellar body] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_004381 -> EC 3.4.22.16
by
@meso_cacase at
DBCLS
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