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Q3KQV9 (UAP1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
UDP-N-acetylhexosamine pyrophosphorylase-like protein 1

EC=2.7.7.-
Gene names
Name:UAP1L1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length507 AA.
Sequence statusComplete.
Protein existenceEvidence 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 diversityAlternative splicing
Polymorphism
   Molecular functionNucleotidyltransferase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionnucleotidyltransferase 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 507507UDP-N-acetylhexosamine pyrophosphorylase-like protein 1
PRO_0000324580

Regions

Motif111 – 1144Substrate binding
Motif306 – 3072Substrate binding

Sites

Binding site2261Substrate By similarity
Binding site4101Substrate By similarity

Natural variations

Alternative sequence1 – 165165MASEQ…CTVPW → MGPGPSPNWTLDPEPRCRLW SEPRLPAGPGVLAAGSPRLP CR in isoform 2.
VSP_032280
Natural variant3191A → V. Ref.1
Corresponds to variant rs7037849 [ dbSNP | Ensembl ].
VAR_039839
Natural variant3731P → S.
Corresponds to variant rs1122444 [ dbSNP | Ensembl ].
VAR_039840

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 18, 2008. Version 2.
Checksum: 2116818C6BD0C5D1

FASTA50757,030
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 7799D4FFB9A3A5D7
Show »

FASTA38442,830

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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS7028.2. [Q3KQV9-1]
RefSeqNP_997192.2. NM_207309.2. [Q3KQV9-1]
UniGeneHs.142076.

3D structure databases

ProteinModelPortalQ3KQV9.
SMRQ3KQV9. Positions 6-501.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000386935.

PTM databases

PhosphoSiteQ3KQV9.

Polymorphism databases

DMDM172046714.

Proteomic databases

MaxQBQ3KQV9.
PaxDbQ3KQV9.
PRIDEQ3KQV9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360271; ENSP00000353409; ENSG00000197355. [Q3KQV9-2]
ENST00000409858; ENSP00000386935; ENSG00000197355. [Q3KQV9-1]
GeneID91373.
KEGGhsa:91373.
UCSCuc004cla.4. human. [Q3KQV9-2]
uc010ncb.3. human. [Q3KQV9-1]

Organism-specific databases

CTD91373.
GeneCardsGC09P139971.
H-InvDBHIX0020615.
HGNCHGNC:28082. UAP1L1.
HPAHPA044356.
neXtProtNX_Q3KQV9.
PharmGKBPA134943810.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4284.
HOGENOMHOG000186273.
HOVERGENHBG018024.
InParanoidQ3KQV9.
KOK00972.
OMAHGTRCTV.
OrthoDBEOG7PGDQZ.
PhylomeDBQ3KQV9.
TreeFamTF300611.

Gene expression databases

BgeeQ3KQV9.
CleanExHS_UAP1L1.
GenevestigatorQ3KQV9.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR029044. Nucleotide-diphossugar_trans.
IPR002618. UDPGP_trans.
[Graphical view]
PANTHERPTHR11952. PTHR11952. 1 hit.
PfamPF01704. UDPGP. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi91373.
NextBio77212.
PROQ3KQV9.

Entry information

Entry nameUAP1L_HUMAN
AccessionPrimary (citable) accession number: Q3KQV9
Secondary accession number(s): A2AMJ8 expand/collapse secondary AC list , Q5SPZ2, Q69YQ3, Q6ZR38
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: July 9, 2014
This is version 70 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM