UAP1L_HUMAN
ID UAP1L_HUMAN Reviewed; 507 AA.
AC Q3KQV9; A2AMJ8; Q5SPZ2; Q69YQ3; Q6ZR38;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=UDP-N-acetylhexosamine pyrophosphorylase-like protein 1;
DE EC=2.7.7.-;
GN Name=UAP1L1;
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 [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT VAL-319.
RC TISSUE=Trachea;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 72-507 (ISOFORM 1).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 91-507 (ISOFORM 1).
RC TISSUE=Skin;
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3KQV9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3KQV9-2; Sequence=VSP_032280;
CC -!- SIMILARITY: Belongs to the UDPGP type 1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI06036.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAH10651.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAW88343.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK128529; BAC87482.1; -; mRNA.
DR EMBL; AL807752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW88342.1; -; Genomic_DNA.
DR EMBL; CH471090; EAW88343.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC106035; AAI06036.1; ALT_INIT; mRNA.
DR EMBL; AL832421; CAH10651.1; ALT_INIT; mRNA.
DR CCDS; CCDS7028.2; -. [Q3KQV9-1]
DR RefSeq; NP_997192.2; NM_207309.2. [Q3KQV9-1]
DR AlphaFoldDB; Q3KQV9; -.
DR SMR; Q3KQV9; -.
DR BioGRID; 124823; 7.
DR STRING; 9606.ENSP00000386935; -.
DR GlyGen; Q3KQV9; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q3KQV9; -.
DR PhosphoSitePlus; Q3KQV9; -.
DR BioMuta; UAP1L1; -.
DR DMDM; 172046714; -.
DR EPD; Q3KQV9; -.
DR jPOST; Q3KQV9; -.
DR MassIVE; Q3KQV9; -.
DR MaxQB; Q3KQV9; -.
DR PaxDb; Q3KQV9; -.
DR PeptideAtlas; Q3KQV9; -.
DR PRIDE; Q3KQV9; -.
DR ProteomicsDB; 61728; -. [Q3KQV9-1]
DR ProteomicsDB; 61729; -. [Q3KQV9-2]
DR TopDownProteomics; Q3KQV9-1; -. [Q3KQV9-1]
DR Antibodypedia; 52196; 82 antibodies from 18 providers.
DR DNASU; 91373; -.
DR Ensembl; ENST00000360271.3; ENSP00000353409.3; ENSG00000197355.11. [Q3KQV9-2]
DR Ensembl; ENST00000409858.8; ENSP00000386935.3; ENSG00000197355.11. [Q3KQV9-1]
DR GeneID; 91373; -.
DR KEGG; hsa:91373; -.
DR MANE-Select; ENST00000409858.8; ENSP00000386935.3; NM_207309.3; NP_997192.2.
DR UCSC; uc004cla.5; human. [Q3KQV9-1]
DR CTD; 91373; -.
DR DisGeNET; 91373; -.
DR GeneCards; UAP1L1; -.
DR HGNC; HGNC:28082; UAP1L1.
DR HPA; ENSG00000197355; Low tissue specificity.
DR neXtProt; NX_Q3KQV9; -.
DR OpenTargets; ENSG00000197355; -.
DR PharmGKB; PA134943810; -.
DR VEuPathDB; HostDB:ENSG00000197355; -.
DR eggNOG; KOG2388; Eukaryota.
DR GeneTree; ENSGT00940000153464; -.
DR HOGENOM; CLU_025603_1_0_1; -.
DR InParanoid; Q3KQV9; -.
DR OMA; KGMYRVG; -.
DR OrthoDB; 888726at2759; -.
DR PhylomeDB; Q3KQV9; -.
DR TreeFam; TF300611; -.
DR PathwayCommons; Q3KQV9; -.
DR BioGRID-ORCS; 91373; 13 hits in 1074 CRISPR screens.
DR ChiTaRS; UAP1L1; human.
DR GenomeRNAi; 91373; -.
DR Pharos; Q3KQV9; Tdark.
DR PRO; PR:Q3KQV9; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q3KQV9; protein.
DR Bgee; ENSG00000197355; Expressed in stromal cell of endometrium and 111 other tissues.
DR ExpressionAtlas; Q3KQV9; baseline and differential.
DR Genevisible; Q3KQV9; HS.
DR GO; GO:0003977; F:UDP-N-acetylglucosamine diphosphorylase activity; IBA:GO_Central.
DR GO; GO:0006048; P:UDP-N-acetylglucosamine biosynthetic process; IBA:GO_Central.
DR Gene3D; 3.90.550.10; -; 1.
DR InterPro; IPR029044; Nucleotide-diphossugar_trans.
DR InterPro; IPR039741; UDP-sugar_pyrophosphorylase.
DR InterPro; IPR002618; UDPGP_fam.
DR PANTHER; PTHR11952; PTHR11952; 1.
DR Pfam; PF01704; UDPGP; 1.
DR SUPFAM; SSF53448; SSF53448; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Nucleotidyltransferase; Reference proteome;
KW Transferase.
FT CHAIN 1..507
FT /note="UDP-N-acetylhexosamine pyrophosphorylase-like
FT protein 1"
FT /id="PRO_0000324580"
FT REGION 56..91
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 111..114
FT /note="Substrate binding"
FT MOTIF 306..307
FT /note="Substrate binding"
FT COMPBIAS 77..91
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 111..114
FT /ligand="UTP"
FT /ligand_id="ChEBI:CHEBI:46398"
FT /evidence="ECO:0000250|UniProtKB:Q9M9P3"
FT BINDING 125
FT /ligand="UTP"
FT /ligand_id="ChEBI:CHEBI:46398"
FT /evidence="ECO:0000250|UniProtKB:Q9M9P3"
FT BINDING 199
FT /ligand="UTP"
FT /ligand_id="ChEBI:CHEBI:46398"
FT /evidence="ECO:0000250|UniProtKB:Q9M9P3"
FT BINDING 225
FT /ligand="UTP"
FT /ligand_id="ChEBI:CHEBI:46398"
FT /evidence="ECO:0000250|UniProtKB:Q9M9P3"
FT BINDING 226
FT /ligand="substrate"
FT /evidence="ECO:0000250"
FT BINDING 256
FT /ligand="UTP"
FT /ligand_id="ChEBI:CHEBI:46398"
FT /evidence="ECO:0000250|UniProtKB:Q9M9P3"
FT BINDING 380
FT /ligand="UTP"
FT /ligand_id="ChEBI:CHEBI:46398"
FT /evidence="ECO:0000250|UniProtKB:Q9M9P3"
FT BINDING 410
FT /ligand="substrate"
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..165
FT /note="MASEQDVRARLQRAGQEHLLRFWAELAPEPRAALLAELALLEPEALREHCRR
FT AAEACARPHGPPPDLAARLRPLPPERVGRASRSDPETRRRWEEEGFRQISLNKVAVLLL
FT AGGQGTRLGVTYPKGMYRVGLPSRKTLYQLQAERIRRVEQLAGERHGTRCTVPW -> M
FT GPGPSPNWTLDPEPRCRLWSEPRLPAGPGVLAAGSPRLPCR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032280"
FT VARIANT 319
FT /note="A -> V (in dbSNP:rs7037849)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_039839"
FT VARIANT 373
FT /note="P -> S (in dbSNP:rs1122444)"
FT /id="VAR_039840"
SQ SEQUENCE 507 AA; 57030 MW; 2116818C6BD0C5D1 CRC64;
MASEQDVRAR LQRAGQEHLL RFWAELAPEP RAALLAELAL LEPEALREHC RRAAEACARP
HGPPPDLAAR LRPLPPERVG RASRSDPETR RRWEEEGFRQ ISLNKVAVLL LAGGQGTRLG
VTYPKGMYRV GLPSRKTLYQ LQAERIRRVE QLAGERHGTR CTVPWYVMTS EFTLGPTAEF
FREHNFFHLD PANVVMFEQR LLPAVTFDGK VILERKDKVA MAPDGNGGLY CALEDHKILE
DMERRGVEFV HVYCVDNILV RLADPVFIGF CVLQGADCGA KVVEKAYPEE PVGVVCQVDG
VPQVVEYSEI SPETAQLRAS DGSLLYNAGN ICNHFFTRGF LKAVTREFEP LLKPHVAVKK
VPYVDEEGNL VKPLKPNGIK MEKFVFDVFR FAKNFAALEV LREEEFSPLK NAEPADRDSP
RTARQALLTQ HYRWALRAGA RFLDAHGAWL PELPSLPPNG DPPAICEISP LVSYSGEGLE
VYLQGREFQS PLILDEDQAR EPQLQES
