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Q3KQV9

- UAP1L_HUMAN

UniProt

Q3KQV9 - UAP1L_HUMAN

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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

Functioni

Sites

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

GO - Molecular functioni

  1. uridylyltransferase activity Source: InterPro
Complete GO annotation...

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.
GeneTreeiENSGT00390000010072.
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

        10         20         30         40         50
MASEQDVRAR LQRAGQEHLL RFWAELAPEP RAALLAELAL LEPEALREHC
60 70 80 90 100
RRAAEACARP HGPPPDLAAR LRPLPPERVG RASRSDPETR RRWEEEGFRQ
110 120 130 140 150
ISLNKVAVLL LAGGQGTRLG VTYPKGMYRV GLPSRKTLYQ LQAERIRRVE
160 170 180 190 200
QLAGERHGTR CTVPWYVMTS EFTLGPTAEF FREHNFFHLD PANVVMFEQR
210 220 230 240 250
LLPAVTFDGK VILERKDKVA MAPDGNGGLY CALEDHKILE DMERRGVEFV
260 270 280 290 300
HVYCVDNILV RLADPVFIGF CVLQGADCGA KVVEKAYPEE PVGVVCQVDG
310 320 330 340 350
VPQVVEYSEI SPETAQLRAS DGSLLYNAGN ICNHFFTRGF LKAVTREFEP
360 370 380 390 400
LLKPHVAVKK VPYVDEEGNL VKPLKPNGIK MEKFVFDVFR FAKNFAALEV
410 420 430 440 450
LREEEFSPLK NAEPADRDSP RTARQALLTQ HYRWALRAGA RFLDAHGAWL
460 470 480 490 500
PELPSLPPNG DPPAICEISP LVSYSGEGLE VYLQGREFQS PLILDEDQAR

EPQLQES
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.
GeneTreei ENSGT00390000010072.
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 29, 2014
This is version 73 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