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2025-05-09 17:15:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000045 1475 bp mRNA linear PRI 26-MAY-2013
DEFINITION Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.
ACCESSION NM_000045
VERSION NM_000045.3 GI:346986433
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 1475)
AUTHORS Vasquez-Dunddel,D., Pan,F., Zeng,Q., Gorbounov,M., Albesiano,E.,
Fu,J., Blosser,R.L., Tam,A.J., Bruno,T., Zhang,H., Pardoll,D. and
Kim,Y.
TITLE STAT3 regulates arginase-I in myeloid-derived suppressor cells from
cancer patients
JOURNAL J. Clin. Invest. 123 (4), 1580-1589 (2013)
PUBMED 23454751
REMARK GeneRIF: The tumor suppressive function of arginase-I in both
infiltrating and circulating myeloid-derived suppressor cells is a
downstream target of activated STAT3.
REFERENCE 2 (bases 1 to 1475)
AUTHORS Mao,H., Gao,W., Lu,G., Fang,F. and Teng,L.
TITLE Clinicopathological and prognostic implications of arginase
expression in hepatocellular carcinoma
JOURNAL Clin. Lab. 59 (1-2), 37-43 (2013)
PUBMED 23505904
REMARK GeneRIF: results suggest that Arg-1 may play a tumor suppressive
role in HCC and could be a new, promising prognostic biomarker for
HCC patients
REFERENCE 3 (bases 1 to 1475)
AUTHORS Carvalho,D.R., Brand,G.D., Brum,J.M., Takata,R.I.,
Speck-Martins,C.E. and Pratesi,R.
TITLE Analysis of novel ARG1 mutations causing hyperargininemia and
correlation with arginase I activity in erythrocytes
JOURNAL Gene 509 (1), 124-130 (2012)
PUBMED 22959135
REMARK GeneRIF: Three previously reported mutations were found (p.R21X;
p.I11T and p.W122X), and five novel mutations were identified
(p.G27D; p.G74V; p.T134I; p.R308Q; p.I174fs179).
REFERENCE 4 (bases 1 to 1475)
AUTHORS D'Antonio,E.L., Hai,Y. and Christianson,D.W.
TITLE Structure and function of non-native metal clusters in human
arginase I
JOURNAL Biochemistry 51 (42), 8399-8409 (2012)
PUBMED 23061982
REMARK GeneRIF: we establish the following trend for turnover number
(k(cat)) and catalytic efficiency (k(cat)/K(M)): Mn(2+) > Ni(2+)
approximately Co(2+) >> Zn(2+). Therefore, Mn(2+) is required for
optimal catalysis by human arginase I.
REFERENCE 5 (bases 1 to 1475)
AUTHORS Radwan,N.A. and Ahmed,N.S.
TITLE The diagnostic value of arginase-1 immunostaining in
differentiating hepatocellular carcinoma from metastatic carcinoma
and cholangiocarcinoma as compared to HepPar-1
JOURNAL Diagn Pathol 7, 149 (2012)
PUBMED 23111165
REMARK GeneRIF: Combined use of arginase-1 and HepPar-1 can provide a
potentially promising tool to improve the accuracy in
distinguishing hepatocellular carcinoma from metastatic carcinoma
and cholangiocarcinoma.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 1475)
AUTHORS Uchino,T., Haraguchi,Y., Aparicio,J.M., Mizutani,N.,
Higashikawa,M., Naitoh,H., Mori,M. and Matsuda,I.
TITLE Three novel mutations in the liver-type arginase gene in three
unrelated Japanese patients with argininemia
JOURNAL Am. J. Hum. Genet. 51 (6), 1406-1412 (1992)
PUBMED 1463019
REFERENCE 7 (bases 1 to 1475)
AUTHORS Grody,W.W., Klein,D., Dodson,A.E., Kern,R.M., Wissmann,P.B.,
Goodman,B.K., Bassand,P., Marescau,B., Kang,S.S., Leonard,J.V. et
al.
TITLE Molecular genetic study of human arginase deficiency
JOURNAL Am. J. Hum. Genet. 50 (6), 1281-1290 (1992)
PUBMED 1598908
REFERENCE 8 (bases 1 to 1475)
AUTHORS Ikemoto,M., Tabata,M., Miyake,T., Kono,T., Mori,M., Totani,M. and
Murachi,T.
TITLE Expression of human liver arginase in Escherichia coli.
Purification and properties of the product
JOURNAL Biochem. J. 270 (3), 697-703 (1990)
PUBMED 2241902
REFERENCE 9 (bases 1 to 1475)
AUTHORS Haraguchi,Y., Aparicio,J.M., Takiguchi,M., Akaboshi,I., Yoshino,M.,
Mori,M. and Matsuda,I.
TITLE Molecular basis of argininemia. Identification of two discrete
frame-shift deletions in the liver-type arginase gene
JOURNAL J. Clin. Invest. 86 (1), 347-350 (1990)
PUBMED 2365823
REFERENCE 10 (bases 1 to 1475)
AUTHORS Grody,W.W., Argyle,C., Kern,R.M., Dizikes,G.J., Spector,E.B.,
Strickland,A.D., Klein,D. and Cederbaum,S.D.
TITLE Differential expression of the two human arginase genes in
hyperargininemia. Enzymatic, pathologic, and molecular analysis
JOURNAL J. Clin. Invest. 83 (2), 602-609 (1989)
PUBMED 2913054
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BG217880.1, BG542163.1,
BC020653.1 and AW236349.1.
This sequence is a reference standard in the RefSeqGene project.
On Sep 16, 2011 this sequence version replaced gi:10947138.
Summary: Arginase catalyzes the hydrolysis of arginine to ornithine
and urea. At least two isoforms of mammalian arginase exist (types
I and II) which differ in their tissue distribution, subcellular
localization, immunologic crossreactivity and physiologic function.
The type I isoform encoded by this gene, is a cytosolic enzyme and
expressed predominantly in the liver as a component of the urea
cycle. Inherited deficiency of this enzyme results in argininemia,
an autosomal recessive disorder characterized by hyperammonemia.
Two transcript variants encoding different isoforms have been found
for this gene. [provided by RefSeq, Sep 2011].
Transcript Variant: This variant (2) uses an alternate in-frame
splice site at the 5' end of an exon compared to variant 1. The
resulting isoform (2) has the same N- and C-termini but is shorter
compared to isoform 1.
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 :: M14502.1, BC020653.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-14 BG217880.1 62-75
15-74 BG542163.1 17-76
75-1469 BC020653.1 1-1395
1470-1475 AW236349.1 1-6 c
FEATURES Location/Qualifiers
source 1..1475
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q23"
gene 1..1475
/gene="ARG1"
/note="arginase, liver"
/db_xref="GeneID:383"
/db_xref="HGNC:663"
/db_xref="HPRD:01947"
/db_xref="MIM:608313"
exon 1..136
/gene="ARG1"
/inference="alignment:Splign:1.39.8"
variation 10
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:192353153"
variation 15
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:17788484"
misc_feature 35..37
/gene="ARG1"
/note="upstream in-frame stop codon"
variation 59
/gene="ARG1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370747314"
CDS 80..1048
/gene="ARG1"
/EC_number="3.5.3.1"
/note="isoform 2 is encoded by transcript variant 2; type
I arginase; liver-type arginase"
/codon_start=1
/product="arginase-1 isoform 2"
/protein_id="NP_000036.2"
/db_xref="GI:10947139"
/db_xref="CCDS:CCDS5145.1"
/db_xref="GeneID:383"
/db_xref="HGNC:663"
/db_xref="HPRD:01947"
/db_xref="MIM:608313"
/translation="
MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK
"
misc_feature 104..988
/gene="ARG1"
/note="Arginase types I and II and arginase-like family;
Region: Arginase-like; cd11587"
/db_xref="CDD:212536"
misc_feature order(119..121,128..130,152..157,164..166,173..175,
224..226,233..238,803..805,815..817,827..829,839..844,
950..952,959..964,971..973,983..985)
/gene="ARG1"
/note="oligomer interface [polypeptide binding]; other
site"
/db_xref="CDD:212536"
misc_feature order(380..382,449..451,455..457,461..463,500..502,
773..775,779..781,908..910)
/gene="ARG1"
/note="active site"
/db_xref="CDD:212536"
misc_feature order(380..382,449..451,455..457,461..463,773..775,
779..781)
/gene="ARG1"
/note="Mn binding site [ion binding]; other site"
/db_xref="CDD:212536"
misc_feature 455..469
/gene="ARG1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P05089.2);
Region: Substrate binding"
misc_feature 488..496
/gene="ARG1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P05089.2);
Region: Substrate binding"
variation 85
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138584410"
variation 102
/gene="ARG1"
/replace="a"
/replace="t"
/db_xref="dbSNP:149310631"
variation 111
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:28941474"
variation 114
/gene="ARG1"
/replace="c"
/replace="g"
/db_xref="dbSNP:147419581"
variation 136
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150766204"
exon 137..209
/gene="ARG1"
/inference="alignment:Splign:1.39.8"
variation 140
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893944"
variation 141
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144994895"
variation 156
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11544411"
exon 210..384
/gene="ARG1"
/inference="alignment:Splign:1.39.8"
variation 214
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372415368"
variation 223
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375655714"
variation 236
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188888028"
variation 249
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147146526"
variation 264
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111640755"
variation 310
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369393679"
variation 316
/gene="ARG1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148619575"
variation 320
/gene="ARG1"
/replace="g"
/replace="t"
/db_xref="dbSNP:142107090"
variation 335
/gene="ARG1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1063493"
variation 349
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34504481"
variation 350
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374676787"
variation 360
/gene="ARG1"
/replace="c"
/replace="g"
/db_xref="dbSNP:34724840"
exon 385..544
/gene="ARG1"
/inference="alignment:Splign:1.39.8"
variation 412
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200458963"
variation 444
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893947"
variation 462
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140549609"
variation 492
/gene="ARG1"
/replace="g"
/replace="t"
/db_xref="dbSNP:104893943"
exon 545..639
/gene="ARG1"
/inference="alignment:Splign:1.39.8"
variation 546
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200319835"
variation 553
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144403253"
variation 561
/gene="ARG1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201484132"
variation 571
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146625637"
variation 601
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370289649"
variation 616
/gene="ARG1"
/replace="g"
/replace="t"
/db_xref="dbSNP:201926198"
exon 640..744
/gene="ARG1"
/inference="alignment:Splign:1.39.8"
variation 643
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376378819"
variation 673
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149496218"
variation 719
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200496725"
variation 744
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145177175"
exon 745..881
/gene="ARG1"
/inference="alignment:Splign:1.39.8"
variation 760
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138705915"
variation 781
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148939143"
variation 782
/gene="ARG1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:104893948"
variation 824
/gene="ARG1"
/replace="c"
/replace="g"
/db_xref="dbSNP:182650447"
variation 848
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372489226"
variation 877
/gene="ARG1"
/replace="a"
/replace="c"
/db_xref="dbSNP:111253965"
exon 882..1472
/gene="ARG1"
/inference="alignment:Splign:1.39.8"
variation 935
/gene="ARG1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370022660"
variation 948
/gene="ARG1"
/replace="c"
/replace="g"
/db_xref="dbSNP:104893942"
variation 950
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893940"
variation 986
/gene="ARG1"
/replace="g"
/replace="t"
/db_xref="dbSNP:148113697"
variation 991
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373480378"
variation 1002
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377280518"
variation 1003
/gene="ARG1"
/replace="g"
/replace="t"
/db_xref="dbSNP:370831108"
variation 1004
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373491227"
variation 1023
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202219126"
variation 1032
/gene="ARG1"
/replace="c"
/replace="t"
/db_xref="dbSNP:73544627"
variation 1035
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147409787"
variation 1170
/gene="ARG1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1803151"
STS 1258..1427
/gene="ARG1"
/standard_name="STS-M14502"
/db_xref="UniSTS:40466"
variation 1358
/gene="ARG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142812031"
polyA_signal 1449..1454
/gene="ARG1"
polyA_site 1472
/gene="ARG1"
ORIGIN
ggaaaaaaaagatgcgccctctgtcactgagggttgactgactggagagctcaagtgcagcaaagagaagtgtcagagcatgagcgccaagtccagaaccatagggattattggagctcctttctcaaagggacagccacgaggaggggtggaagaaggccctacagtattgagaaaggctggtctgcttgagaaacttaaagaacaagagtgtgatgtgaaggattatggggacctgccctttgctgacatccctaatgacagtccctttcaaattgtgaagaatccaaggtctgtgggaaaagcaagcgagcagctggctggcaaggtggcagaagtcaagaagaacggaagaatcagcctggtgctgggcggagaccacagtttggcaattggaagcatctctggccatgccagggtccaccctgatcttggagtcatctgggtggatgctcacactgatatcaacactccactgacaaccacaagtggaaacttgcatggacaacctgtatctttcctcctgaaggaactaaaaggaaagattcccgatgtgccaggattctcctgggtgactccctgtatatctgccaaggatattgtgtatattggcttgagagacgtggaccctggggaacactacattttgaaaactctaggcattaaatacttttcaatgactgaagtggacagactaggaattggcaaggtgatggaagaaacactcagctatctactaggaagaaagaaaaggccaattcatctaagttttgatgttgacggactggacccatctttcacaccagctactggcacaccagtcgtgggaggtctgacatacagagaaggtctctacatcacagaagaaatctacaaaacagggctactctcaggattagatataatggaagtgaacccatccctggggaagacaccagaagaagtaactcgaacagtgaacacagcagttgcaataaccttggcttgtttcggacttgctcgggagggtaatcacaagcctattgactaccttaacccacctaagtaaatgtggaaacatccgatataaatctcatagttaatggcataattagaaagctaatcattttcttaagcatagagttatccttctaaagacttgttctttcagaaaaatgtttttccaattagtataaactctacaaattccctcttggtgtaaaattcaagatgtggaaattctaacttttttgaaatttaaaagcttatattttctaacttggcaaaagacttatccttagaaagagaagtgtacattgatttccaattaaaaatttgctggcattaaaaataagcacacttacataagcccccatacatagagtgggactcttggaatcaggagacaaagctaccacatgtggaaaggtactatgtgtccatgtcattcaaaaaatgtgattttttataataaactctttataacaagattaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:383 -> Molecular function: GO:0004053 [arginase activity] evidence: EXP
GeneID:383 -> Molecular function: GO:0030145 [manganese ion binding] evidence: IEA
GeneID:383 -> Biological process: GO:0000050 [urea cycle] evidence: IEA
GeneID:383 -> Biological process: GO:0000050 [urea cycle] evidence: TAS
GeneID:383 -> Biological process: GO:0001889 [liver development] evidence: IEA
GeneID:383 -> Biological process: GO:0001938 [positive regulation of endothelial cell proliferation] evidence: IEA
GeneID:383 -> Biological process: GO:0006527 [arginine catabolic process] evidence: TAS
GeneID:383 -> Biological process: GO:0009635 [response to herbicide] evidence: IEA
GeneID:383 -> Biological process: GO:0010042 [response to manganese ion] evidence: IEA
GeneID:383 -> Biological process: GO:0010043 [response to zinc ion] evidence: IEA
GeneID:383 -> Biological process: GO:0010269 [response to selenium ion] evidence: IEA
GeneID:383 -> Biological process: GO:0010963 [regulation of L-arginine import] evidence: IEA
GeneID:383 -> Biological process: GO:0014075 [response to amine stimulus] evidence: IEA
GeneID:383 -> Biological process: GO:0030324 [lung development] evidence: IEA
GeneID:383 -> Biological process: GO:0032964 [collagen biosynthetic process] evidence: IEA
GeneID:383 -> Biological process: GO:0033189 [response to vitamin A] evidence: IEA
GeneID:383 -> Biological process: GO:0033197 [response to vitamin E] evidence: IEA
GeneID:383 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
GeneID:383 -> Biological process: GO:0042493 [response to drug] evidence: IEA
GeneID:383 -> Biological process: GO:0043200 [response to amino acid stimulus] evidence: IEA
GeneID:383 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:383 -> Biological process: GO:0046686 [response to cadmium ion] evidence: IEA
GeneID:383 -> Biological process: GO:0048678 [response to axon injury] evidence: IEA
GeneID:383 -> Biological process: GO:0051597 [response to methylmercury] evidence: IEA
GeneID:383 -> Biological process: GO:0060056 [mammary gland involution] evidence: IEA
GeneID:383 -> Biological process: GO:0060135 [maternal process involved in female pregnancy] evidence: IEA
GeneID:383 -> Biological process: GO:0070207 [protein homotrimerization] evidence: IEA
GeneID:383 -> Biological process: GO:0070301 [cellular response to hydrogen peroxide] evidence: IEA
GeneID:383 -> Biological process: GO:0071222 [cellular response to lipopolysaccharide] evidence: IEA
GeneID:383 -> Biological process: GO:0071377 [cellular response to glucagon stimulus] evidence: IEA
GeneID:383 -> Biological process: GO:0071549 [cellular response to dexamethasone stimulus] evidence: IEA
GeneID:383 -> Biological process: GO:0071560 [cellular response to transforming growth factor beta stimulus] evidence: IEA
GeneID:383 -> Cellular component: GO:0005615 [extracellular space] evidence: IEA
GeneID:383 -> Cellular component: GO:0005737 [cytoplasm] evidence: TAS
GeneID:383 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:383 -> Cellular component: GO:0043005 [neuron projection] evidence: IEA
GeneID:383 -> Cellular component: GO:0043025 [neuronal cell body] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_000036 -> EC 3.5.3.1
by
@meso_cacase at
DBCLS
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