Q3KQV9 (UAP1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
UDP-N-acetylhexosamine pyrophosphorylase-like protein 1
EC=2.7.7.-

Gene names

Name:

UAP1L1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	507 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities	Belongs to the UDPGP type 1 family.
Sequence caution	The sequence AAI06036.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAH10651.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence EAW88343.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Nucleotidyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	nucleotidyltransferase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q3KQV9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q3KQV9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-165: MASEQDVRAR...RHGTRCTVPW → MGPGPSPNWT...AAGSPRLPCR

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 507	507	UDP-N-acetylhexosamine pyrophosphorylase-like protein 1		PRO_0000324580
Regions
	Motif	111 – 114	4	Substrate binding
	Motif	306 – 307	2	Substrate binding
Sites
	Binding site	226	1	Substrate By similarity
	Binding site	410	1	Substrate By similarity
Natural variations
	Alternative sequence	1 – 165	165	MASEQ…CTVPW → MGPGPSPNWTLDPEPRCRLW SEPRLPAGPGVLAAGSPRLP CR in isoform 2.		VSP_032280
	Natural variant	319	1	A → V. Ref.1 Corresponds to variant rs7037849 [ dbSNP | Ensembl ].		VAR_039839
	Natural variant	373	1	P → S. Corresponds to variant rs1122444 [ dbSNP | Ensembl ].		VAR_039840

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 18, 2008. Version 2. Checksum: 2116818C6BD0C5D1	FASTA	507	57,030
	10 20 30 40 50 60 MASEQDVRAR LQRAGQEHLL RFWAELAPEP RAALLAELAL LEPEALREHC RRAAEACARP 70 80 90 100 110 120 HGPPPDLAAR LRPLPPERVG RASRSDPETR RRWEEEGFRQ ISLNKVAVLL LAGGQGTRLG 130 140 150 160 170 180 VTYPKGMYRV GLPSRKTLYQ LQAERIRRVE QLAGERHGTR CTVPWYVMTS EFTLGPTAEF 190 200 210 220 230 240 FREHNFFHLD PANVVMFEQR LLPAVTFDGK VILERKDKVA MAPDGNGGLY CALEDHKILE 250 260 270 280 290 300 DMERRGVEFV HVYCVDNILV RLADPVFIGF CVLQGADCGA KVVEKAYPEE PVGVVCQVDG 310 320 330 340 350 360 VPQVVEYSEI SPETAQLRAS DGSLLYNAGN ICNHFFTRGF LKAVTREFEP LLKPHVAVKK 370 380 390 400 410 420 VPYVDEEGNL VKPLKPNGIK MEKFVFDVFR FAKNFAALEV LREEEFSPLK NAEPADRDSP 430 440 450 460 470 480 RTARQALLTQ HYRWALRAGA RFLDAHGAWL PELPSLPPNG DPPAICEISP LVSYSGEGLE 490 500 VYLQGREFQS PLILDEDQAR EPQLQES
	Isoform 2 [UniParc]. Checksum: 7799D4FFB9A3A5D7	FASTA	384	42,830
	10 20 30 40 50 60 MGPGPSPNWT LDPEPRCRLW SEPRLPAGPG VLAAGSPRLP CRYVMTSEFT LGPTAEFFRE 70 80 90 100 110 120 HNFFHLDPAN VVMFEQRLLP AVTFDGKVIL ERKDKVAMAP DGNGGLYCAL EDHKILEDME 130 140 150 160 170 180 RRGVEFVHVY CVDNILVRLA DPVFIGFCVL QGADCGAKVV EKAYPEEPVG VVCQVDGVPQ 190 200 210 220 230 240 VVEYSEISPE TAQLRASDGS LLYNAGNICN HFFTRGFLKA VTREFEPLLK PHVAVKKVPY 250 260 270 280 290 300 VDEEGNLVKP LKPNGIKMEK FVFDVFRFAK NFAALEVLRE EEFSPLKNAE PADRDSPRTA 310 320 330 340 350 360 RQALLTQHYR WALRAGARFL DAHGAWLPEL PSLPPNGDPP AICEISPLVS YSGEGLEVYL 370 380 QGREFQSPLI LDEDQAREPQ LQES

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-319. Tissue: Trachea.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 72-507 (ISOFORM 1). Tissue: Melanoma.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 91-507 (ISOFORM 1). Tissue: Skin.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK128529 mRNA. Translation: BAC87482.1. AL807752 Genomic DNA. Translation: CAI12779.2. AL807752 Genomic DNA. Translation: CAM14424.1. CH471090 Genomic DNA. Translation: EAW88342.1. CH471090 Genomic DNA. Translation: EAW88343.1. Sequence problems. BC106035 mRNA. Translation: AAI06036.1. Different initiation. AL832421 mRNA. Translation: CAH10651.1. Different initiation.
IPI	IPI00477962. IPI00798010.
RefSeq	NP_997192.2. NM_207309.2.
UniGene	Hs.142076.
3D structure databases
HSSP	HSSP built from PDB template 1VM8 based on UniProtKB Q91YN5.
ProteinModelPortal	Q3KQV9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000386935.
PTM databases
PhosphoSite	Q3KQV9.
Polymorphism databases
DMDM	172046714.
Proteomic databases
PaxDb	Q3KQV9.
PRIDE	Q3KQV9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360271; ENSP00000353409; ENSG00000197355. ENST00000409858; ENSP00000386935; ENSG00000197355.
GeneID	91373.
KEGG	hsa:91373.
UCSC	uc004cla.4. human. uc010ncb.3. human.
Organism-specific databases
CTD	91373.
GeneCards	GC09P139971.
H-InvDB	HIX0020615.
HGNC	HGNC:28082. UAP1L1.
HPA	HPA044356.
neXtProt	NX_Q3KQV9.
PharmGKB	PA134943810.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG4284.
HOGENOM	HOG000186273.
HOVERGEN	HBG018024.
InParanoid	Q3KQV9.
KO	K00972.
OMA	YFDIFRY.
OrthoDB	EOG4PG60V.
Gene expression databases
Bgee	Q3KQV9.
CleanEx	HS_UAP1L1.
Genevestigator	Q3KQV9.
Family and domain databases
InterPro	IPR002618. UDPGP_trans. [Graphical view]
PANTHER	PTHR11952. PTHR11952. 1 hit.
Pfam	PF01704. UDPGP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	91373.
NextBio	77212.

Entry information

Entry name

UAP1L_HUMAN

Accession

Primary (citable) accession number: Q3KQV9
Secondary accession number(s): A2AMJ8 , Q5SPZ2, Q69YQ3, Q6ZR38

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	March 18, 2008
Last modified:	May 1, 2013
This is version 58 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.