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O95461

- LARGE_HUMAN

UniProt

O95461 - LARGE_HUMAN

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Protein
Glycosyltransferase-like protein LARGE1
Gene
LARGE, KIAA0609, LARGE1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated disaccharide unit.2 Publications

Pathwayi

GO - Molecular functioni

  1. acetylglucosaminyltransferase activity Source: ProtInc
  2. transferase activity, transferring glycosyl groups Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. N-acetylglucosamine metabolic process Source: ProtInc
  2. glycoprotein biosynthetic process Source: UniProtKB
  3. glycosphingolipid biosynthetic process Source: UniProtKB
  4. muscle cell cellular homeostasis Source: UniProtKB
  5. protein glycosylation Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

UniPathwayiUPA00378.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosyltransferase-like protein LARGE1 (EC:2.4.-.-)
Alternative name(s):
Acetylglucosaminyltransferase-like 1A
Gene namesi
Name:LARGE
Synonyms:KIAA0609, LARGE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:6511. LARGE.

Subcellular locationi

Golgi apparatus membrane; Single-pass type II membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1010Cytoplasmic Reviewed prediction
Transmembranei11 – 3121Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini32 – 756725Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of Golgi membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6) [MIM:608840]: A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti509 – 5091E → K in MDDGB6. 1 Publication
VAR_019811
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti331 – 3311S → F in MDDGA6. 1 Publication
VAR_065064
Natural varianti495 – 4951W → R in MDDGA6. 1 Publication
VAR_065065

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi242 – 2443DTD → NNN: Loss of function, but does not abolish subcellular location.
Mutagenesisi334 – 3363DQD → NNN: Loss of function, but does not abolish subcellular location. 1 Publication
Mutagenesisi563 – 5653DID → NNN: Loss of function and abolishes subcellular location. 1 Publication

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy

Organism-specific databases

MIMi608840. phenotype.
613154. phenotype.
Orphaneti370968. Congenital muscular dystrophy with intellectual disability.
588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBiPA30296.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 756756Glycosyltransferase-like protein LARGE1
PRO_0000206060Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi97 – 971N-linked (GlcNAc...) Reviewed prediction
Glycosylationi122 – 1221N-linked (GlcNAc...) Reviewed prediction
Glycosylationi148 – 1481N-linked (GlcNAc...) Reviewed prediction
Glycosylationi272 – 2721N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO95461.
PaxDbiO95461.
PRIDEiO95461.

PTM databases

PhosphoSiteiO95461.

Expressioni

Tissue specificityi

Ubiquitous. Highest expression in heart, brain and skeletal muscle.1 Publication

Gene expression databases

ArrayExpressiO95461.
BgeeiO95461.
CleanExiHS_LARGE.
GenevestigatoriO95461.

Organism-specific databases

HPAiHPA028878.

Interactioni

Subunit structurei

Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin By similarity.

Protein-protein interaction databases

DIPiDIP-48922N.
STRINGi9606.ENSP00000347088.

Structurei

3D structure databases

ProteinModelPortaliO95461.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili53 – 9543 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG279004.
HOVERGENiHBG052308.
InParanoidiO95461.
KOiK09668.
OMAiLESQPHS.
OrthoDBiEOG7RJPQV.
PhylomeDBiO95461.
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.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O95461-1) [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

MLGICRGRRK FLAASLSLLC IPAITWIYLF SGSFEDGKPV SLSPLESQAH    50
SPRYTASSQR ERESLEVRMR EVEEENRALR RQLSLAQGRA PSHRRGNHSK 100
TYSMEEGTGD SENLRAGIVA GNSSECGQQP VVEKCETIHV AIVCAGYNAS 150
RDVVTLVKSV LFHRRNPLHF HLIADSIAEQ ILATLFQTWM VPAVRVDFYN 200
ADELKSEVSW IPNKHYSGIY GLMKLVLTKT LPANLERVIV LDTDITFATD 250
IAELWAVFHK FKGQQVLGLV ENQSDWYLGN LWKNHRPWPA LGRGYNTGVI 300
LLLLDKLRKM KWEQMWRLTA ERELMGMLST SLADQDIFNA VIKQNPFLVY 350
QLPCFWNVQL SDHTRSEQCY RDVSDLKVIH WNSPKKLRVK NKHVEFFRNL 400
YLTFLEYDGN LLRRELFGCP SEADVNSENL QKQLSELDED DLCYEFRRER 450
FTVHRTHLYF LHYEYEPAAD STDVTLVAQL SMDRLQMLEA ICKHWEGPIS 500
LALYLSDAEA QQFLRYAQGS EVLMSRHNVG YHIVYKEGQF YPVNLLRNVA 550
MKHISTPYMF LSDIDFLPMY GLYEYLRKSV IQLDLANTKK AMIVPAFETL 600
RYRLSFPKSK AELLSMLDMG TLFTFRYHVW TKGHAPTNFA KWRTATTPYR 650
VEWEADFEPY VVVRRDCPEY DRRFVGFGWN KVAHIMELDV QEYEFIVLPN 700
AYMIHMPHAP SFDITKFRSN KQYRICLKTL KEEFQQDMSR RYGFAALKYL 750
TAENNS 756
Length:756
Mass (Da):88,066
Last modified:May 1, 1999 - v1
Checksum:iB022E118379AA17C
GO
Isoform 2 (identifier: O95461-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     378-429: Missing.

Note: No experimental confirmation available.

Show »
Length:704
Mass (Da):81,846
Checksum:i9CCD42064004C7FF
GO

Sequence cautioni

The sequence BAA25535.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti68 – 681R → G.
Corresponds to variant rs470035 [ dbSNP | Ensembl ].
VAR_013685
Natural varianti68 – 681R → P.
Corresponds to variant rs135311 [ dbSNP | Ensembl ].
VAR_013686
Natural varianti331 – 3311S → F in MDDGA6. 1 Publication
VAR_065064
Natural varianti495 – 4951W → R in MDDGA6. 1 Publication
VAR_065065
Natural varianti509 – 5091E → K in MDDGB6. 1 Publication
VAR_019811
Natural varianti665 – 6651R → H.
Corresponds to variant rs1046166 [ dbSNP | Ensembl ].
VAR_013687

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei378 – 42952Missing in isoform 2.
VSP_014536Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ007583 mRNA. Translation: CAA07571.1.
AB011181 mRNA. Translation: BAA25535.3. Different initiation.
CR456510 mRNA. Translation: CAG30396.1.
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI17950.1.
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI17890.1.
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI18784.1.
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI18785.1.
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAI18772.1.
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA. Translation: CAI18788.1.
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA. Translation: CAI18769.1.
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA. Translation: CAI18754.1.
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA. Translation: CAQ06856.1.
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ08281.1.
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ08801.1.
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ09323.1.
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ09434.1.
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA. Translation: CAQ09895.1.
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA. Translation: CAQ10763.1.
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA. Translation: CAQ11002.1.
BC117425 mRNA. Translation: AAI17426.1.
BC126404 mRNA. Translation: AAI26405.1.
CCDSiCCDS13912.1. [O95461-1]
PIRiT00256.
RefSeqiNP_004728.1. NM_004737.4. [O95461-1]
NP_598397.1. NM_133642.3. [O95461-1]
XP_005261888.1. XM_005261831.1. [O95461-1]
XP_005261889.1. XM_005261832.1. [O95461-1]
UniGeneiHs.474667.

Genome annotation databases

EnsembliENST00000337431; ENSP00000336636; ENSG00000133424. [O95461-2]
ENST00000354992; ENSP00000347088; ENSG00000133424. [O95461-1]
ENST00000397394; ENSP00000380549; ENSG00000133424. [O95461-1]
ENST00000402320; ENSP00000385223; ENSG00000133424. [O95461-2]
GeneIDi9215.
KEGGihsa:9215.
UCSCiuc003and.4. human. [O95461-1]
uc010gwp.3. human. [O95461-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Glycosyltransferase-like protein LARGE1

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ007583 mRNA. Translation: CAA07571.1 .
AB011181 mRNA. Translation: BAA25535.3 . Different initiation.
CR456510 mRNA. Translation: CAG30396.1 .
AL008630
, AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI17950.1 .
AL008715
, AL008630 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI17890.1 .
AL096754
, AL008630 , AL008715 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI18784.1 .
Z68287
, AL008630 , AL008715 , AL096754 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI18785.1 .
Z69042
, AL008630 , AL008715 , AL096754 , Z68287 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAI18772.1 .
Z69943
, AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z70288 , Z82173 Genomic DNA. Translation: CAI18788.1 .
Z70288
, AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z82173 Genomic DNA. Translation: CAI18769.1 .
Z82173
, AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 Genomic DNA. Translation: CAI18754.1 .
Z69943
, AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z70288 , Z82173 Genomic DNA. Translation: CAQ06856.1 .
AL096754
, AL008630 , AL008715 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ08281.1 .
Z68287
, AL008630 , AL008715 , AL096754 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ08801.1 .
AL008630
, AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ09323.1 .
AL008715
, AL008630 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ09434.1 .
Z82173
, AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z70288 Genomic DNA. Translation: CAQ09895.1 .
Z69042
, AL008630 , AL008715 , AL096754 , Z68287 , Z69943 , Z70288 , Z82173 Genomic DNA. Translation: CAQ10763.1 .
Z70288
, AL008630 , AL008715 , AL096754 , Z68287 , Z69042 , Z69943 , Z82173 Genomic DNA. Translation: CAQ11002.1 .
BC117425 mRNA. Translation: AAI17426.1 .
BC126404 mRNA. Translation: AAI26405.1 .
CCDSi CCDS13912.1. [O95461-1 ]
PIRi T00256.
RefSeqi NP_004728.1. NM_004737.4. [O95461-1 ]
NP_598397.1. NM_133642.3. [O95461-1 ]
XP_005261888.1. XM_005261831.1. [O95461-1 ]
XP_005261889.1. XM_005261832.1. [O95461-1 ]
UniGenei Hs.474667.

3D structure databases

ProteinModelPortali O95461.
ModBasei Search...

Protein-protein interaction databases

DIPi DIP-48922N.
STRINGi 9606.ENSP00000347088.

Chemistry

ChEMBLi CHEMBL2146300.

Protein family/group databases

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

PTM databases

PhosphoSitei O95461.

Proteomic databases

MaxQBi O95461.
PaxDbi O95461.
PRIDEi O95461.

Protocols and materials databases

DNASUi 9215.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337431 ; ENSP00000336636 ; ENSG00000133424 . [O95461-2 ]
ENST00000354992 ; ENSP00000347088 ; ENSG00000133424 . [O95461-1 ]
ENST00000397394 ; ENSP00000380549 ; ENSG00000133424 . [O95461-1 ]
ENST00000402320 ; ENSP00000385223 ; ENSG00000133424 . [O95461-2 ]
GeneIDi 9215.
KEGGi hsa:9215.
UCSCi uc003and.4. human. [O95461-1 ]
uc010gwp.3. human. [O95461-2 ]

Organism-specific databases

CTDi 9215.
GeneCardsi GC22M033668.
GeneReviewsi LARGE.
HGNCi HGNC:6511. LARGE.
HPAi HPA028878.
MIMi 603590. gene.
608840. phenotype.
613154. phenotype.
neXtProti NX_O95461.
Orphaneti 370968. Congenital muscular dystrophy with intellectual disability.
588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBi PA30296.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG279004.
HOVERGENi HBG052308.
InParanoidi O95461.
KOi K09668.
OMAi LESQPHS.
OrthoDBi EOG7RJPQV.
PhylomeDBi O95461.
TreeFami TF319168.

Enzyme and pathway databases

UniPathwayi UPA00378 .

Miscellaneous databases

ChiTaRSi LARGE. human.
GeneWikii LARGE.
GenomeRNAii 9215.
NextBioi 34547.
PROi O95461.
SOURCEi Search...

Gene expression databases

ArrayExpressi O95461.
Bgeei O95461.
CleanExi HS_LARGE.
Genevestigatori O95461.

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. "The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family."
    Peyrard M., Seroussi E., Sandberg-Nordqvist A.-C., Xie Y.-G., Han F.-Y., Fransson I., Collins J.E., Dunham I., Kost-Alimova M., Imreh S., Dumanski J.P.
    Proc. Natl. Acad. Sci. U.S.A. 96:598-603(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal brain.
  2. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    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: Lung.
  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: SUBCELLULAR LOCATION.
  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, MUTAGENESIS OF 242-GLY--GLY-244; 334-GLY--GLY-336 AND 563-GLY--GLY-565.
  9. "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan."
    Longman C., Brockington M., Torelli S., Jimenez-Mallebrera C., Kennedy C., Khalil N., Feng L., Saran R.K., Voit T., Merlini L., Sewry C.A., Brown S.C., Muntoni F.
    Hum. Mol. Genet. 12:2853-2861(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MDDGB6 LYS-509.
  10. Cited for: VARIANT MDDGA6 PHE-331.
  11. Cited for: VARIANT MDDGA6 ARG-495.

Entry informationi

Entry nameiLARGE_HUMAN
AccessioniPrimary (citable) accession number: O95461
Secondary accession number(s): B0QXZ7
, O60348, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 124 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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