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Q8N3Y3

- LARG2_HUMAN

UniProt

Q8N3Y3 - LARG2_HUMAN

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Protein

Glycosyltransferase-like protein LARGE2

Gene

GYLTL1B

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

Functioni

Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. Has a higher activity toward alpha-dystroglycan than LARGE.2 Publications

GO - Molecular functioni

  1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW

GO - Biological processi

  1. muscle cell cellular homeostasis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Protein family/group databases

CAZyiGT49. Glycosyltransferase Family 49.
GT8. Glycosyltransferase Family 8.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosyltransferase-like protein LARGE2 (EC:2.4.-.-)
Alternative name(s):
Glycosyltransferase-like 1B
Gene namesi
Name:GYLTL1B
Synonyms:LARGE2
ORF Names:PP5656
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:16522. GYLTL1B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 88CytoplasmicSequence Analysis
Transmembranei9 – 2921Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini30 – 721692LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671704.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 721721Glycosyltransferase-like protein LARGE2PRO_0000226811Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi80 – 801N-linked (GlcNAc...)Sequence Analysis
Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence Analysis
Glycosylationi231 – 2311N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8N3Y3.
PaxDbiQ8N3Y3.
PRIDEiQ8N3Y3.

PTM databases

PhosphoSiteiQ8N3Y3.

Expressioni

Tissue specificityi

Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain.2 Publications

Gene expression databases

BgeeiQ8N3Y3.
CleanExiHS_GYLTL1B.
ExpressionAtlasiQ8N3Y3. baseline and differential.
GenevestigatoriQ8N3Y3.

Organism-specific databases

HPAiHPA056621.

Interactioni

Protein-protein interaction databases

BioGridi125666. 4 interactions.
DIPiDIP-48923N.
IntActiQ8N3Y3. 1 interaction.
STRINGi9606.ENSP00000324570.

Structurei

3D structure databases

ProteinModelPortaliQ8N3Y3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG279004.
GeneTreeiENSGT00530000063165.
HOGENOMiHOG000231467.
HOVERGENiHBG052308.
InParanoidiQ8N3Y3.
KOiK09668.
OMAiLPCIWNV.
OrthoDBiEOG7RJPQV.
PhylomeDBiQ8N3Y3.
TreeFamiTF319168.

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.

Sequencei

Sequence statusi: Complete.

Q8N3Y3-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLPRGRPRAL GAAALLLLLL LLGFLLFGGD LGCERREPGG RAGAPGCFPG
60 70 80 90 100
PLMPRVPPDG RLRRAAALDG DPGAGPGDHN RSDCGPQPPP PPKCELLHVA
110 120 130 140 150
IVCAGHNSSR DVITLVKSML FYRKNPLHLH LVTDAVARNI LETLFHTWMV
160 170 180 190 200
PAVRVSFYHA DQLKPQVSWI PNKHYSGLYG LMKLVLPSAL PAELARVIVL
210 220 230 240 250
DTDVTFASDI SELWALFAHF SDTQAIGLVE NQSDWYLGNL WKNHRPWPAL
260 270 280 290 300
GRGFNTGVIL LRLDRLRQAG WEQMWRLTAR RELLSLPATS LADQDIFNAV
310 320 330 340 350
IKEHPGLVQR LPCVWNVQLS DHTLAERCYS EASDLKVIHW NSPKKLRVKN
360 370 380 390 400
KHVEFFRNFY LTFLEYDGNL LRRELFVCPS QPPPGAEQLQ QALAQLDEED
410 420 430 440 450
PCFEFRQQQL TVHRVHVTFL PHEPPPPRPH DVTLVAQLSM DRLQMLEALC
460 470 480 490 500
RHWPGPMSLA LYLTDAEAQQ FLHFVEASPV LAARQDVAYH VVYREGPLYP
510 520 530 540 550
VNQLRNVALA QALTPYVFLS DIDFLPAYSL YDYLRASIEQ LGLGSRRKAA
560 570 580 590 600
LVVPAFETLR YRFSFPHSKV ELLALLDAGT LYTFRYHEWP RGHAPTDYAR
610 620 630 640 650
WREAQAPYRV QWAANYEPYV VVPRDCPRYD PRFVGFGWNK VAHIVELDAQ
660 670 680 690 700
EYELLVLPEA FTIHLPHAPS LDISRFRSSP TYRDCLQALK DEFHQDLSRH
710 720
HGAAALKYLP ALQQPQSPAR G
Length:721
Mass (Da):81,787
Last modified:May 1, 2007 - v2
Checksum:i7E9E208AAD872344
GO

Sequence cautioni

The sequence AAG23791.1 differs from that shown. Reason: Frameshift at positions 496, 510 and 674. Curated
The sequence BAC03909.1 differs from that shown. Reason: Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti166 – 1661Q → R in BAC04675. (PubMed:14702039)Curated
Sequence conflicti398 – 3981E → G in BAC03909. (PubMed:14702039)Curated
Sequence conflicti473 – 4742HF → IS in AAG23791. (PubMed:15498874)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371E → K.1 Publication
Corresponds to variant rs17853729 [ dbSNP | Ensembl ].
VAR_031854
Natural varianti546 – 5461R → W.
Corresponds to variant rs11038713 [ dbSNP | Ensembl ].
VAR_031855
Natural varianti677 – 6771R → C.
Corresponds to variant rs2271851 [ dbSNP | Ensembl ].
VAR_025518

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092526 mRNA. Translation: BAC03909.1. Sequence problems.
AK096021 mRNA. Translation: BAC04675.1.
AC068385 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68021.1.
BC037291 mRNA. Translation: AAH37291.1.
AF258588 mRNA. Translation: AAG23791.1. Frameshift.
CCDSiCCDS31473.1.
RefSeqiNP_001287650.1. NM_001300721.1.
NP_001287651.1. NM_001300722.1.
NP_689525.3. NM_152312.4.
UniGeneiHs.86543.

Genome annotation databases

EnsembliENST00000325468; ENSP00000324570; ENSG00000165905.
ENST00000401752; ENSP00000385235; ENSG00000165905.
ENST00000531526; ENSP00000432869; ENSG00000165905.
ENST00000536139; ENSP00000445044; ENSG00000165905.
GeneIDi120071.
KEGGihsa:120071.
UCSCiuc001nbv.1. human.

Polymorphism databases

DMDMi146345450.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Glycosyltransferase-like protein LARGE2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092526 mRNA. Translation: BAC03909.1 . Sequence problems.
AK096021 mRNA. Translation: BAC04675.1 .
AC068385 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68021.1 .
BC037291 mRNA. Translation: AAH37291.1 .
AF258588 mRNA. Translation: AAG23791.1 . Frameshift.
CCDSi CCDS31473.1.
RefSeqi NP_001287650.1. NM_001300721.1.
NP_001287651.1. NM_001300722.1.
NP_689525.3. NM_152312.4.
UniGenei Hs.86543.

3D structure databases

ProteinModelPortali Q8N3Y3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125666. 4 interactions.
DIPi DIP-48923N.
IntActi Q8N3Y3. 1 interaction.
STRINGi 9606.ENSP00000324570.

Protein family/group databases

CAZyi GT49. Glycosyltransferase Family 49.
GT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSitei Q8N3Y3.

Polymorphism databases

DMDMi 146345450.

Proteomic databases

MaxQBi Q8N3Y3.
PaxDbi Q8N3Y3.
PRIDEi Q8N3Y3.

Protocols and materials databases

DNASUi 120071.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325468 ; ENSP00000324570 ; ENSG00000165905 .
ENST00000401752 ; ENSP00000385235 ; ENSG00000165905 .
ENST00000531526 ; ENSP00000432869 ; ENSG00000165905 .
ENST00000536139 ; ENSP00000445044 ; ENSG00000165905 .
GeneIDi 120071.
KEGGi hsa:120071.
UCSCi uc001nbv.1. human.

Organism-specific databases

CTDi 120071.
GeneCardsi GC11P045943.
H-InvDB HIX0009596.
HGNCi HGNC:16522. GYLTL1B.
HPAi HPA056621.
MIMi 609709. gene.
neXtProti NX_Q8N3Y3.
PharmGKBi PA142671704.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG279004.
GeneTreei ENSGT00530000063165.
HOGENOMi HOG000231467.
HOVERGENi HBG052308.
InParanoidi Q8N3Y3.
KOi K09668.
OMAi LPCIWNV.
OrthoDBi EOG7RJPQV.
PhylomeDBi Q8N3Y3.
TreeFami TF319168.

Miscellaneous databases

GenomeRNAii 120071.
NextBioi 80516.
PROi Q8N3Y3.
SOURCEi Search...

Gene expression databases

Bgeei Q8N3Y3.
CleanExi HS_GYLTL1B.
ExpressionAtlasi Q8N3Y3. baseline and differential.
Genevestigatori Q8N3Y3.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
Pfami PF01501. Glyco_transf_8. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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].
    Tissue: Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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], VARIANT LYS-37.
    Tissue: Brain.
  5. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 356-721.
  6. "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE."
    Fujimura K., Sawaki H., Sakai T., Hiruma T., Nakanishi N., Sato T., Ohkura T., Narimatsu H.
    Biochem. Biophys. Res. Commun. 329:1162-1171(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY.
  7. "Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies."
    Grewal P.K., McLaughlan J.M., Moore C.J., Browning C.A., Hewitt J.E.
    Glycobiology 15:912-923(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  8. "Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy."
    Brockington M., Torelli S., Prandini P., Boito C., Dolatshad N.F., Longman C., Brown S.C., Muntoni F.
    Hum. Mol. Genet. 14:657-665(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiLARG2_HUMAN
AccessioniPrimary (citable) accession number: Q8N3Y3
Secondary accession number(s): A6NN75
, Q8N8Y6, Q8NAK3, Q8WY62
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: May 1, 2007
Last modified: November 26, 2014
This is version 100 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 11
    Human chromosome 11: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3