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Q3KQV9

- UAP1L_HUMAN

UniProt

Q3KQV9 - UAP1L_HUMAN

Protein

UDP-N-acetylhexosamine pyrophosphorylase-like protein 1

Gene

UAP1L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 72 (01 Oct 2014)
      Sequence version 2 (18 Mar 2008)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei226 – 2261SubstrateBy similarity
    Binding sitei410 – 4101SubstrateBy similarity

    GO - Molecular functioni

    1. nucleotidyltransferase activity Source: UniProtKB-KW

    Keywords - Molecular functioni

    Nucleotidyltransferase, Transferase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 (EC:2.7.7.-)
    Gene namesi
    Name:UAP1L1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:28082. UAP1L1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134943810.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 507507UDP-N-acetylhexosamine pyrophosphorylase-like protein 1PRO_0000324580Add
    BLAST

    Proteomic databases

    MaxQBiQ3KQV9.
    PaxDbiQ3KQV9.
    PRIDEiQ3KQV9.

    PTM databases

    PhosphoSiteiQ3KQV9.

    Expressioni

    Gene expression databases

    BgeeiQ3KQV9.
    CleanExiHS_UAP1L1.
    GenevestigatoriQ3KQV9.

    Organism-specific databases

    HPAiHPA044356.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000386935.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3KQV9.
    SMRiQ3KQV9. Positions 6-501.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi111 – 1144Substrate binding
    Motifi306 – 3072Substrate binding

    Sequence similaritiesi

    Belongs to the UDPGP type 1 family.Curated

    Phylogenomic databases

    eggNOGiCOG4284.
    HOGENOMiHOG000186273.
    HOVERGENiHBG018024.
    InParanoidiQ3KQV9.
    KOiK00972.
    OMAiHGTRCTV.
    OrthoDBiEOG7PGDQZ.
    PhylomeDBiQ3KQV9.
    TreeFamiTF300611.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR029044. Nucleotide-diphossugar_trans.
    IPR002618. UDPGP_trans_fam.
    [Graphical view]
    PANTHERiPTHR11952. PTHR11952. 1 hit.
    PfamiPF01704. UDPGP. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q3KQV9-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MASEQDVRAR LQRAGQEHLL RFWAELAPEP RAALLAELAL LEPEALREHC    50
    RRAAEACARP HGPPPDLAAR LRPLPPERVG RASRSDPETR RRWEEEGFRQ 100
    ISLNKVAVLL LAGGQGTRLG VTYPKGMYRV GLPSRKTLYQ LQAERIRRVE 150
    QLAGERHGTR CTVPWYVMTS EFTLGPTAEF FREHNFFHLD PANVVMFEQR 200
    LLPAVTFDGK VILERKDKVA MAPDGNGGLY CALEDHKILE DMERRGVEFV 250
    HVYCVDNILV RLADPVFIGF CVLQGADCGA KVVEKAYPEE PVGVVCQVDG 300
    VPQVVEYSEI SPETAQLRAS DGSLLYNAGN ICNHFFTRGF LKAVTREFEP 350
    LLKPHVAVKK VPYVDEEGNL VKPLKPNGIK MEKFVFDVFR FAKNFAALEV 400
    LREEEFSPLK NAEPADRDSP RTARQALLTQ HYRWALRAGA RFLDAHGAWL 450
    PELPSLPPNG DPPAICEISP LVSYSGEGLE VYLQGREFQS PLILDEDQAR 500
    EPQLQES 507
    Length:507
    Mass (Da):57,030
    Last modified:March 18, 2008 - v2
    Checksum:i2116818C6BD0C5D1
    GO
    Isoform 2 (identifier: Q3KQV9-2) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:384
    Mass (Da):42,830
    Checksum:i7799D4FFB9A3A5D7
    GO

    Sequence cautioni

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti319 – 3191A → V.1 Publication
    Corresponds to variant rs7037849 [ dbSNP | Ensembl ].
    VAR_039839
    Natural varianti373 – 3731P → S.
    Corresponds to variant rs1122444 [ dbSNP | Ensembl ].
    VAR_039840

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 165165MASEQ…CTVPW → MGPGPSPNWTLDPEPRCRLW SEPRLPAGPGVLAAGSPRLP CR in isoform 2. 1 PublicationVSP_032280Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS7028.2. [Q3KQV9-1]
    RefSeqiNP_997192.2. NM_207309.2. [Q3KQV9-1]
    UniGeneiHs.142076.

    Genome annotation databases

    EnsembliENST00000360271; ENSP00000353409; ENSG00000197355. [Q3KQV9-2]
    ENST00000409858; ENSP00000386935; ENSG00000197355. [Q3KQV9-1]
    GeneIDi91373.
    KEGGihsa:91373.
    UCSCiuc004cla.4. human. [Q3KQV9-2]
    uc010ncb.3. human. [Q3KQV9-1]

    Polymorphism databases

    DMDMi172046714.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS7028.2. [Q3KQV9-1 ]
    RefSeqi NP_997192.2. NM_207309.2. [Q3KQV9-1 ]
    UniGenei Hs.142076.

    3D structure databases

    ProteinModelPortali Q3KQV9.
    SMRi Q3KQV9. Positions 6-501.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000386935.

    PTM databases

    PhosphoSitei Q3KQV9.

    Polymorphism databases

    DMDMi 172046714.

    Proteomic databases

    MaxQBi Q3KQV9.
    PaxDbi Q3KQV9.
    PRIDEi Q3KQV9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360271 ; ENSP00000353409 ; ENSG00000197355 . [Q3KQV9-2 ]
    ENST00000409858 ; ENSP00000386935 ; ENSG00000197355 . [Q3KQV9-1 ]
    GeneIDi 91373.
    KEGGi hsa:91373.
    UCSCi uc004cla.4. human. [Q3KQV9-2 ]
    uc010ncb.3. human. [Q3KQV9-1 ]

    Organism-specific databases

    CTDi 91373.
    GeneCardsi GC09P139971.
    H-InvDB HIX0020615.
    HGNCi HGNC:28082. UAP1L1.
    HPAi HPA044356.
    neXtProti NX_Q3KQV9.
    PharmGKBi PA134943810.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4284.
    HOGENOMi HOG000186273.
    HOVERGENi HBG018024.
    InParanoidi Q3KQV9.
    KOi K00972.
    OMAi HGTRCTV.
    OrthoDBi EOG7PGDQZ.
    PhylomeDBi Q3KQV9.
    TreeFami TF300611.

    Miscellaneous databases

    GenomeRNAii 91373.
    NextBioi 77212.
    PROi Q3KQV9.

    Gene expression databases

    Bgeei Q3KQV9.
    CleanExi HS_UAP1L1.
    Genevestigatori Q3KQV9.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR029044. Nucleotide-diphossugar_trans.
    IPR002618. UDPGP_trans_fam.
    [Graphical view ]
    PANTHERi PTHR11952. PTHR11952. 1 hit.
    Pfami PF01704. UDPGP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiUAP1L_HUMAN
    AccessioniPrimary (citable) accession number: Q3KQV9
    Secondary accession number(s): A2AMJ8
    , Q5SPZ2, Q69YQ3, Q6ZR38
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: March 18, 2008
    Last modified: October 1, 2014
    This is version 72 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3