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Protein

Xyloside xylosyltransferase 1

Gene

XXYLT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of the second xylose.1 Publication

Catalytic activityi

UDP-alpha-D-xylose + alpha-D-xylose-(1->3)-beta-D-glucosyl-R = UDP + alpha-D-xylose-(1->3)-alpha-D-xylose-(1->3)-beta-D-glucosyl-R.1 Publication

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

SIGNORiQ8NBI6.

Protein family/group databases

CAZyiGT8. Glycosyltransferase Family 8.

Names & Taxonomyi

Protein namesi
Recommended name:
Xyloside xylosyltransferase 1 (EC:2.4.2.n3)
Alternative name(s):
UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase
Gene namesi
Name:XXYLT1
Synonyms:C3orf21
ORF Names:PSEC0251
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:26639. XXYLT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei24 – 4421Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134925222.

Polymorphism and mutation databases

BioMutaiXXYLT1.
DMDMi74751171.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 393393Xyloside xylosyltransferase 1PRO_0000234427Add
BLAST

Proteomic databases

EPDiQ8NBI6.
MaxQBiQ8NBI6.
PaxDbiQ8NBI6.
PRIDEiQ8NBI6.

PTM databases

iPTMnetiQ8NBI6.
PhosphoSiteiQ8NBI6.

Expressioni

Gene expression databases

BgeeiQ8NBI6.
CleanExiHS_C3orf21.
ExpressionAtlasiQ8NBI6. baseline and differential.
GenevisibleiQ8NBI6. HS.

Interactioni

Subunit structurei

Monomer. Homodimer. Dimer formation may be essential for the retention in endoplasmic reticulum.1 Publication

Protein-protein interaction databases

BioGridi127415. 9 interactions.
STRINGi9606.ENSP00000309640.

Structurei

3D structure databases

ProteinModelPortaliQ8NBI6.
SMRiQ8NBI6. Positions 96-392.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3765. Eukaryota.
ENOG410XRNY. LUCA.
GeneTreeiENSGT00530000063165.
HOGENOMiHOG000007690.
HOVERGENiHBG061240.
InParanoidiQ8NBI6.
OMAiCAEKISD.
OrthoDBiEOG7992QQ.
PhylomeDBiQ8NBI6.
TreeFamiTF323210.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NBI6-1) [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
MGLLRGGLPC ARAMARLGAV RSHYCALLLA AALAVCAFYY LGSGRETFSS
60 70 80 90 100
ATKRLKEARA GAPAAPSPPA LELARGSVAP APGAKAKSLE GGGAGPVDYH
110 120 130 140 150
LLMMFTKAEH NAALQAKARV ALRSLLRLAK FEAHEVLNLH FVSEEASREV
160 170 180 190 200
AKGLLRELLP PAAGFKCKVI FHDVAVLTDK LFPIVEAMQK HFSAGLGTYY
210 220 230 240 250
SDSIFFLSVA MHQIMPKEIL QIIQLDLDLK FKTNIRELFE EFDSFLPGAI
260 270 280 290 300
IGIAREMQPV YRHTFWQFRH ENPQTRVGGP PPEGLPGFNS GVMLLNLEAM
310 320 330 340 350
RQSPLYSRLL EPAQVQQLAD KYHFRGHLGD QDFFTMIGME HPKLFHVLDC
360 370 380 390
TWNRQLCTWW RDHGYSDVFE AYFRCEGHVK IYHGNCNTPI PED
Length:393
Mass (Da):43,807
Last modified:October 1, 2002 - v1
Checksum:i3C788AFDF933A23D
GO
Isoform 2 (identifier: Q8NBI6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-203: Missing.
     204-217: IFFLSVAMHQIMPK → MWPPRCKDPGRQSA

Note: No experimental confirmation available.
Show »
Length:190
Mass (Da):22,304
Checksum:i8E76B9CC7AFB4FD5
GO
Isoform 3 (identifier: Q8NBI6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-203: Missing.
     204-206: Missing.
     207-262: LSVAMHQIMP...IAREMQPVYR → MNGMSVLMKE...WSWTSQPLEL

Note: No experimental confirmation available.
Show »
Length:187
Mass (Da):21,817
Checksum:i9A49152D460573D2
GO

Sequence cautioni

The sequence AAH19036.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 203203Missing in isoform 2 and isoform 3. 1 PublicationVSP_018315Add
BLAST
Alternative sequencei204 – 21714IFFLS…QIMPK → MWPPRCKDPGRQSA in isoform 2. 1 PublicationVSP_018317Add
BLAST
Alternative sequencei204 – 2063Missing in isoform 3. 1 PublicationVSP_018316
Alternative sequencei207 – 26256LSVAM…QPVYR → MNGMSVLMKETLKSSVTPSP YEETGERQPSVNWAVSPHQT QNQWARWSWTSQPLEL in isoform 3. 1 PublicationVSP_018318Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057046 mRNA. Translation: BAB71355.1.
AK092474 mRNA. Translation: BAC03899.1.
AK075551 mRNA. Translation: BAC11694.1.
CH471052 Genomic DNA. Translation: EAW78028.1.
CH471052 Genomic DNA. Translation: EAW78029.1.
BC019036 mRNA. Translation: AAH19036.1. Different initiation.
BC039067 mRNA. Translation: AAH39067.2.
CCDSiCCDS43188.1. [Q8NBI6-1]
RefSeqiNP_689744.3. NM_152531.4. [Q8NBI6-1]
UniGeneiHs.478741.
Hs.744847.

Genome annotation databases

EnsembliENST00000310380; ENSP00000309640; ENSG00000173950. [Q8NBI6-1]
ENST00000356740; ENSP00000349179; ENSG00000173950. [Q8NBI6-3]
ENST00000437101; ENSP00000409865; ENSG00000173950. [Q8NBI6-2]
GeneIDi152002.
KEGGihsa:152002.
UCSCiuc003fuk.4. human. [Q8NBI6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057046 mRNA. Translation: BAB71355.1.
AK092474 mRNA. Translation: BAC03899.1.
AK075551 mRNA. Translation: BAC11694.1.
CH471052 Genomic DNA. Translation: EAW78028.1.
CH471052 Genomic DNA. Translation: EAW78029.1.
BC019036 mRNA. Translation: AAH19036.1. Different initiation.
BC039067 mRNA. Translation: AAH39067.2.
CCDSiCCDS43188.1. [Q8NBI6-1]
RefSeqiNP_689744.3. NM_152531.4. [Q8NBI6-1]
UniGeneiHs.478741.
Hs.744847.

3D structure databases

ProteinModelPortaliQ8NBI6.
SMRiQ8NBI6. Positions 96-392.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127415. 9 interactions.
STRINGi9606.ENSP00000309640.

Protein family/group databases

CAZyiGT8. Glycosyltransferase Family 8.

PTM databases

iPTMnetiQ8NBI6.
PhosphoSiteiQ8NBI6.

Polymorphism and mutation databases

BioMutaiXXYLT1.
DMDMi74751171.

Proteomic databases

EPDiQ8NBI6.
MaxQBiQ8NBI6.
PaxDbiQ8NBI6.
PRIDEiQ8NBI6.

Protocols and materials databases

DNASUi152002.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310380; ENSP00000309640; ENSG00000173950. [Q8NBI6-1]
ENST00000356740; ENSP00000349179; ENSG00000173950. [Q8NBI6-3]
ENST00000437101; ENSP00000409865; ENSG00000173950. [Q8NBI6-2]
GeneIDi152002.
KEGGihsa:152002.
UCSCiuc003fuk.4. human. [Q8NBI6-1]

Organism-specific databases

CTDi152002.
GeneCardsiXXYLT1.
H-InvDBHIX0017512.
HGNCiHGNC:26639. XXYLT1.
MIMi614552. gene.
neXtProtiNX_Q8NBI6.
PharmGKBiPA134925222.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3765. Eukaryota.
ENOG410XRNY. LUCA.
GeneTreeiENSGT00530000063165.
HOGENOMiHOG000007690.
HOVERGENiHBG061240.
InParanoidiQ8NBI6.
OMAiCAEKISD.
OrthoDBiEOG7992QQ.
PhylomeDBiQ8NBI6.
TreeFamiTF323210.

Enzyme and pathway databases

SIGNORiQ8NBI6.

Miscellaneous databases

ChiTaRSiXXYLT1. human.
GenomeRNAii152002.
PROiQ8NBI6.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NBI6.
CleanExiHS_C3orf21.
ExpressionAtlasiQ8NBI6. baseline and differential.
GenevisibleiQ8NBI6. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of Notch."
    Sethi M.K., Buettner F.F., Ashikov A., Krylov V.B., Takeuchi H., Nifantiev N.E., Haltiwanger R.S., Gerardy-Schahn R., Bakker H.
    J. Biol. Chem. 287:2739-2748(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, CATALYTIC ACTIVITY, SUBUNIT, SUBCELLULAR LOCATION.
  2. "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] (ISOFORMS 2 AND 3).
    Tissue: Placenta.
  3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Neuron.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORM 1).
    Tissue: Kidney.

Entry informationi

Entry nameiXXLT1_HUMAN
AccessioniPrimary (citable) accession number: Q8NBI6
Secondary accession number(s): D3DNW5
, Q8NAL3, Q8WV03, Q96ME0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: October 1, 2002
Last modified: June 8, 2016
This is version 101 of the entry and version 1 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

Caution

It is uncertain whether Met-1 or Met-14 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.