ASND1_HUMAN
ID ASND1_HUMAN Reviewed; 643 AA.
AC Q9NWL6; D3DPH6; Q3LIC3; Q4ZG45;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Asparagine synthetase domain-containing protein 1;
DE AltName: Full=HCV NS3-transactivated protein 1;
GN Name=ASNSD1; Synonyms=NS3TP1; ORFNames=Nbla00058;
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 [MRNA], AND VARIANT ARG-190.
RA Liu Y., Cheng J., Mu J., Wang G., Zhang L., Chen J., Li L.;
RT "Cloning and identification of human gene 1 transactivated by hepatitis C
RT virus NS3 protein.";
RL Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-190.
RC TISSUE=Hepatoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-190.
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], AND VARIANT ARG-190.
RC TISSUE=Placenta;
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).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 40-643, AND VARIANT ARG-190.
RC TISSUE=Neuroblastoma;
RX PubMed=12880961; DOI=10.1016/s0304-3835(03)00085-5;
RA Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S.,
RA Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S.,
RA Hirato J., Nakagawara A.;
RT "Neuroblastoma oligo-capping cDNA project: toward the understanding of the
RT genesis and biology of neuroblastoma.";
RL Cancer Lett. 197:63-68(2003).
RN [7]
RP ALTERNATIVE INITIATION (ISOFORM 2).
RX PubMed=23160002; DOI=10.1038/nchembio.1120;
RA Slavoff S.A., Mitchell A.J., Schwaid A.G., Cabili M.N., Ma J., Levin J.Z.,
RA Karger A.D., Budnik B.A., Rinn J.L., Saghatelian A.;
RT "Peptidomic discovery of short open reading frame-encoded peptides in human
RT cells.";
RL Nat. Chem. Biol. 9:59-64(2013).
RN [8]
RP ALTERNATIVE INITIATION (ISOFORM 2).
RX PubMed=23950983; DOI=10.1371/journal.pone.0070698;
RA Vanderperre B., Lucier J.-F., Motard J., Tremblay G., Vanderperre S.,
RA Wisztorski M., Salzet M., Boisvert F.-M., Roucou X.;
RT "Direct detection of alternative open reading frames translation products
RT in human significantly expands the proteome.";
RL PLoS ONE 8:E70698-E70698(2013).
RN [9]
RP ALTERNATIVE INITIATION (ISOFORM 2).
RX PubMed=25857697; DOI=10.3109/10409238.2015.1016215;
RA Chu Q., Ma J., Saghatelian A.;
RT "Identification and characterization of sORF-encoded polypeptides.";
RL Crit. Rev. Biochem. Mol. Biol. 50:134-141(2015).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative initiation; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NWL6-1; Sequence=Displayed;
CC Name=2; Synonyms=uORF {ECO:0000303|PubMed:23160002};
CC IsoId=L0R819-1; Sequence=External;
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DR EMBL; AY116969; AAM77212.1; -; mRNA.
DR EMBL; AK000759; BAA91364.1; -; mRNA.
DR EMBL; AC012488; AAX88843.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10898.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10899.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10900.1; -; Genomic_DNA.
DR EMBL; BC001243; AAH01243.1; -; mRNA.
DR EMBL; AB075481; BAE45745.1; -; mRNA.
DR CCDS; CCDS2300.1; -. [Q9NWL6-1]
DR RefSeq; NP_061921.1; NM_019048.2. [Q9NWL6-1]
DR RefSeq; XP_016859870.1; XM_017004381.1.
DR RefSeq; XP_016859871.1; XM_017004382.1.
DR AlphaFoldDB; Q9NWL6; -.
DR SMR; Q9NWL6; -.
DR BioGRID; 120017; 10.
DR IntAct; Q9NWL6; 5.
DR STRING; 9606.ENSP00000260952; -.
DR iPTMnet; Q9NWL6; -.
DR PhosphoSitePlus; Q9NWL6; -.
DR BioMuta; ASNSD1; -.
DR DMDM; 311033363; -.
DR EPD; Q9NWL6; -.
DR MassIVE; Q9NWL6; -.
DR MaxQB; Q9NWL6; -.
DR PaxDb; Q9NWL6; -.
DR PeptideAtlas; Q9NWL6; -.
DR PRIDE; Q9NWL6; -.
DR ProteomicsDB; 82945; -.
DR Antibodypedia; 34024; 143 antibodies from 24 providers.
DR DNASU; 54529; -.
DR Ensembl; ENST00000260952.9; ENSP00000260952.4; ENSG00000138381.10. [Q9NWL6-1]
DR GeneID; 54529; -.
DR KEGG; hsa:54529; -.
DR MANE-Select; ENST00000260952.9; ENSP00000260952.4; NM_019048.4; NP_061921.2.
DR UCSC; uc002uqt.4; human. [Q9NWL6-1]
DR CTD; 54529; -.
DR GeneCards; ASNSD1; -.
DR HGNC; HGNC:24910; ASNSD1.
DR HPA; ENSG00000138381; Low tissue specificity.
DR MIM; 619739; gene.
DR neXtProt; NX_Q9NWL6; -.
DR OpenTargets; ENSG00000138381; -.
DR PharmGKB; PA143485312; -.
DR VEuPathDB; HostDB:ENSG00000138381; -.
DR eggNOG; KOG0573; Eukaryota.
DR GeneTree; ENSGT00390000012446; -.
DR InParanoid; Q9NWL6; -.
DR OMA; CFDVPDR; -.
DR PhylomeDB; Q9NWL6; -.
DR TreeFam; TF314578; -.
DR PathwayCommons; Q9NWL6; -.
DR SignaLink; Q9NWL6; -.
DR BioGRID-ORCS; 54529; 39 hits in 1075 CRISPR screens.
DR ChiTaRS; ASNSD1; human.
DR GenomeRNAi; 54529; -.
DR Pharos; Q9NWL6; Tdark.
DR PRO; PR:Q9NWL6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9NWL6; protein.
DR Bgee; ENSG00000138381; Expressed in cortical plate and 206 other tissues.
DR ExpressionAtlas; Q9NWL6; baseline and differential.
DR Genevisible; Q9NWL6; HS.
DR GO; GO:0004066; F:asparagine synthase (glutamine-hydrolyzing) activity; IEA:InterPro.
DR GO; GO:0006529; P:asparagine biosynthetic process; IEA:UniProtKB-KW.
DR GO; GO:0006541; P:glutamine metabolic process; IEA:UniProtKB-KW.
DR CDD; cd01991; Asn_Synthase_B_C; 1.
DR Gene3D; 3.40.50.620; -; 1.
DR Gene3D; 3.60.20.10; -; 1.
DR InterPro; IPR001962; Asn_synthase.
DR InterPro; IPR017932; GATase_2_dom.
DR InterPro; IPR029055; Ntn_hydrolases_N.
DR InterPro; IPR014729; Rossmann-like_a/b/a_fold.
DR Pfam; PF00733; Asn_synthase; 1.
DR SUPFAM; SSF56235; SSF56235; 1.
DR PROSITE; PS51278; GATASE_TYPE_2; 1.
PE 2: Evidence at transcript level;
KW Alternative initiation; Amino-acid biosynthesis; Asparagine biosynthesis;
KW Glutamine amidotransferase; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250"
FT CHAIN 2..643
FT /note="Asparagine synthetase domain-containing protein 1"
FT /id="PRO_0000324760"
FT DOMAIN 2..184
FT /note="Glutamine amidotransferase type-2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00609"
FT DOMAIN 285..601
FT /note="Asparagine synthetase"
FT ACT_SITE 2
FT /note="For GATase activity"
FT /evidence="ECO:0000250"
FT VARIANT 190
FT /note="G -> R (in dbSNP:rs1437880)"
FT /evidence="ECO:0000269|PubMed:12880961,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.1, ECO:0000269|Ref.4"
FT /id="VAR_039876"
FT VARIANT 434
FT /note="M -> T (in dbSNP:rs35137531)"
FT /id="VAR_039877"
SQ SEQUENCE 643 AA; 72080 MW; C40C4AAC1607299F CRC64;
MCGICCSVNF SAEHFSQDLK EDLLYNLKQR GPNSSKQLLK SDVNYQCLFS AHVLHLRGVL
TTQPVEDERG NVFLWNGEIF SGIKVEAEEN DTQILFNYLS SCKNESEILS LFSEVQGPWS
FIYYQASSHY LWFGRDFFGR RSLLWHFSNL GKSFCLSSVG TQTSGLANQW QEVPASGLFR
IDLKSTVISG CIILQLYPWK YISRENIIEE NVNSLSQISA DLPAFVSVVA NEAKLYLEKP
VVPLNMMLPQ AALETHCSNI SNVPPTREIL QVFLTDVHMK EVIQQFIDVL SVAVKKRVLC
LPRDENLTAN EVLKTCDRKA NVAILFSGGI DSMVIATLAD RHIPLDEPID LLNVAFIAEE
KTMPTTFNRE GNKQKNKCEI PSEEFSKDVA AAAADSPNKH VSVPDRITGR AGLKELQAVS
PSRIWNFVEI NVSMEELQKL RRTRICHLIR PLDTVLDDSI GCAVWFASRG IGWLVAQEGV
KSYQSNAKVV LTGIGADEQL AGYSRHRVRF QSHGLEGLNK EIMMELGRIS SRNLGRDDRV
IGDHGKEARF PFLDENVVSF LNSLPIWEKA NLTLPRGIGE KLLLRLAAVE LGLTASALLP
KRAMQFGSRI AKMEKINEKA SDKCGRLQIM SLENLSIEKE TKL
