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Q8NCW6

- GLT11_HUMAN

UniProt

Q8NCW6 - GLT11_HUMAN

Protein

Polypeptide N-acetylgalactosaminyltransferase 11

Gene

GALNT11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 2 (16 Aug 2004)
      Previous versions | rss
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    Functioni

    Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO).2 Publications

    Catalytic activityi

    UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.1 Publication

    Cofactori

    Manganese.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei191 – 1911SubstrateBy similarity
    Binding sitei222 – 2221SubstrateBy similarity
    Metal bindingi245 – 2451ManganeseBy similarity
    Binding sitei246 – 2461SubstrateBy similarity
    Metal bindingi247 – 2471ManganeseBy similarity
    Binding sitei350 – 3501SubstrateBy similarity
    Metal bindingi378 – 3781ManganeseBy similarity
    Binding sitei381 – 3811SubstrateBy similarity
    Binding sitei386 – 3861SubstrateBy similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. Notch binding Source: UniProtKB
    3. polypeptide N-acetylgalactosaminyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. cilium morphogenesis Source: UniProtKB
    3. determination of left/right symmetry Source: UniProtKB
    4. Notch receptor processing Source: UniProtKB
    5. Notch signaling involved in heart development Source: UniProtKB
    6. O-glycan processing Source: Reactome
    7. post-translational protein modification Source: Reactome
    8. protein O-linked glycosylation via threonine Source: UniProtKB
    9. regulation of Notch signaling pathway Source: UniProtKB

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Biological processi

    Notch signaling pathway

    Keywords - Ligandi

    Lectin, Manganese, Metal-binding

    Enzyme and pathway databases

    BRENDAi2.4.1.41. 2681.
    ReactomeiREACT_115606. O-linked glycosylation of mucins.
    SABIO-RKQ8NCW6.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiCBM13. Carbohydrate-Binding Module Family 13.
    GT27. Glycosyltransferase Family 27.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 11 (EC:2.4.1.41)
    Alternative name(s):
    Polypeptide GalNAc transferase 11
    Short name:
    GalNAc-T11
    Short name:
    pp-GaNTase 11
    Protein-UDP acetylgalactosaminyltransferase 11
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11
    Gene namesi
    Name:GALNT11
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:19875. GALNT11.

    Subcellular locationi

    Golgi apparatus membrane 1 Publication; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

    1. Golgi membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in GALNT11 may be a cause of heterotaxy, a congenital heart disease resulting from abnormalities in left-right (LR) body patterning.1 Publication

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi247 – 2471H → A: Abolishes glycosyltransferase activity and ability to rescue left-right patterning defects induced by galnt11 knockdown in X.tropicalis. 1 Publication

    Keywords - Diseasei

    Heterotaxy

    Organism-specific databases

    PharmGKBiPA134911149.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 608608Polypeptide N-acetylgalactosaminyltransferase 11PRO_0000059125Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi141 ↔ 373PROSITE-ProRule annotation
    Disulfide bondi364 ↔ 441PROSITE-ProRule annotation
    Glycosylationi428 – 4281N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi493 ↔ 512PROSITE-ProRule annotation
    Disulfide bondi536 ↔ 553PROSITE-ProRule annotation
    Disulfide bondi578 ↔ 596PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ8NCW6.
    PaxDbiQ8NCW6.
    PRIDEiQ8NCW6.

    PTM databases

    PhosphoSiteiQ8NCW6.

    Expressioni

    Tissue specificityi

    Highly expressed in kidney. Expressed at intermediate level in brain, heart and skeletal muscle. Weakly expressed other tissues. In kidney, it is strongly expressed in tubules but not expressed in glomeruli.1 Publication

    Gene expression databases

    ArrayExpressiQ8NCW6.
    BgeeiQ8NCW6.
    CleanExiHS_GALNT11.
    GenevestigatoriQ8NCW6.

    Organism-specific databases

    HPAiHPA039330.

    Interactioni

    Subunit structurei

    Interacts with NOTCH1.1 Publication

    Protein-protein interaction databases

    BioGridi121988. 1 interaction.
    STRINGi9606.ENSP00000315835.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NCW6.
    SMRiQ8NCW6. Positions 130-606.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini30 – 608579LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2923Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini476 – 607132Ricin B-type lectinPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni150 – 261112Catalytic subdomain AAdd
    BLAST
    Regioni319 – 38163Catalytic subdomain BAdd
    BLAST

    Domaini

    There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.By similarity
    The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.By similarity

    Sequence similaritiesi

    Contains 1 ricin B-type lectin domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG239675.
    HOGENOMiHOG000038227.
    HOVERGENiHBG051699.
    InParanoidiQ8NCW6.
    KOiK00710.
    OMAiMIFNERD.
    OrthoDBiEOG7J9VP2.
    PhylomeDBiQ8NCW6.
    TreeFamiTF313267.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR027791. Galactosyl_T_C.
    IPR001173. Glyco_trans_2-like.
    IPR029044. Nucleotide-diphossugar_trans.
    IPR000772. Ricin_B_lectin.
    [Graphical view]
    PfamiPF02709. Glyco_transf_7C. 1 hit.
    PF00535. Glycos_transf_2. 1 hit.
    PF00652. Ricin_B_lectin. 1 hit.
    [Graphical view]
    SMARTiSM00458. RICIN. 1 hit.
    [Graphical view]
    SUPFAMiSSF50370. SSF50370. 1 hit.
    SSF53448. SSF53448. 1 hit.
    PROSITEiPS50231. RICIN_B_LECTIN. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NCW6-1) [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

    MGSVTVRYFC YGCLFTSATW TVLLFVYFNF SEVTQPLKNV PVKGSGPHGP    50
    SPKKFYPRFT RGPSRVLEPQ FKANKIDDVI DSRVEDPEEG HLKFSSELGM 100
    IFNERDQELR DLGYQKHAFN MLISDRLGYH RDVPDTRNAA CKEKFYPPDL 150
    PAASVVICFY NEAFSALLRT VHSVIDRTPA HLLHEIILVD DDSDFDDLKG 200
    ELDEYVQKYL PGKIKVIRNT KREGLIRGRM IGAAHATGEV LVFLDSHCEV 250
    NVMWLQPLLA AIREDRHTVV CPVIDIISAD TLAYSSSPVV RGGFNWGLHF 300
    KWDLVPLSEL GRAEGATAPI KSPTMAGGLF AMNRQYFHEL GQYDSGMDIW 350
    GGENLEISFR IWMCGGKLFI IPCSRVGHIF RKRRPYGSPE GQDTMTHNSL 400
    RLAHVWLDEY KEQYFSLRPD LKTKSYGNIS ERVELRKKLG CKSFKWYLDN 450
    VYPEMQISGS HAKPQQPIFV NRGPKRPKVL QRGRLYHLQT NKCLVAQGRP 500
    SQKGGLVVLK ACDYSDPNQI WIYNEEHELV LNSLLCLDMS ETRSSDPPRL 550
    MKCHGSGGSQ QWTFGKNNRL YQVSVGQCLR AVDPLGQKGS VAMAICDGSS 600
    SQQWHLEG 608
    Length:608
    Mass (Da):68,919
    Last modified:August 16, 2004 - v2
    Checksum:i075D7B839A8D5607
    GO
    Isoform 2 (identifier: Q8NCW6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         196-202: DDLKGEL → GKECCTW
         203-608: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:202
    Mass (Da):23,090
    Checksum:iA2B98F18AB31C370
    GO

    Sequence cautioni

    The sequence BAB15338.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti94 – 941F → L in BAG54116. (PubMed:14702039)Curated
    Sequence conflicti551 – 5511M → V in BAB15105. (PubMed:14702039)Curated
    Sequence conflicti577 – 5771Q → L in BAB15105. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti151 – 1511P → S.
    Corresponds to variant rs6464201 [ dbSNP | Ensembl ].
    VAR_019589
    Natural varianti197 – 1971D → Y.1 Publication
    Corresponds to variant rs3778922 [ dbSNP | Ensembl ].
    VAR_019590

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei196 – 2027DDLKGEL → GKECCTW in isoform 2. 1 PublicationVSP_011215
    Alternative sequencei203 – 608406Missing in isoform 2. 1 PublicationVSP_011216Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y12434 mRNA. Translation: CAC79625.3.
    AK025287 mRNA. Translation: BAB15105.1.
    AK026056 mRNA. Translation: BAB15338.1. Different initiation.
    AK124934 mRNA. Translation: BAG54116.1.
    AC006017 Genomic DNA. Translation: AAD45821.1.
    BC059377 mRNA. Translation: AAH59377.1.
    CCDSiCCDS5930.1. [Q8NCW6-1]
    RefSeqiNP_071370.2. NM_022087.2. [Q8NCW6-1]
    XP_006716145.1. XM_006716082.1. [Q8NCW6-1]
    XP_006716146.1. XM_006716083.1. [Q8NCW6-1]
    XP_006716147.1. XM_006716084.1. [Q8NCW6-1]
    UniGeneiHs.647109.

    Genome annotation databases

    EnsembliENST00000415421; ENSP00000410093; ENSG00000178234. [Q8NCW6-2]
    ENST00000430044; ENSP00000395122; ENSG00000178234. [Q8NCW6-1]
    ENST00000434507; ENSP00000416787; ENSG00000178234. [Q8NCW6-1]
    GeneIDi63917.
    KEGGihsa:63917.
    UCSCiuc003wku.2. human. [Q8NCW6-1]
    uc003wkv.1. human. [Q8NCW6-2]

    Polymorphism databases

    DMDMi51316030.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Polypeptide N-acetylgalactosaminyltransferase 11

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y12434 mRNA. Translation: CAC79625.3 .
    AK025287 mRNA. Translation: BAB15105.1 .
    AK026056 mRNA. Translation: BAB15338.1 . Different initiation.
    AK124934 mRNA. Translation: BAG54116.1 .
    AC006017 Genomic DNA. Translation: AAD45821.1 .
    BC059377 mRNA. Translation: AAH59377.1 .
    CCDSi CCDS5930.1. [Q8NCW6-1 ]
    RefSeqi NP_071370.2. NM_022087.2. [Q8NCW6-1 ]
    XP_006716145.1. XM_006716082.1. [Q8NCW6-1 ]
    XP_006716146.1. XM_006716083.1. [Q8NCW6-1 ]
    XP_006716147.1. XM_006716084.1. [Q8NCW6-1 ]
    UniGenei Hs.647109.

    3D structure databases

    ProteinModelPortali Q8NCW6.
    SMRi Q8NCW6. Positions 130-606.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121988. 1 interaction.
    STRINGi 9606.ENSP00000315835.

    Protein family/group databases

    CAZyi CBM13. Carbohydrate-Binding Module Family 13.
    GT27. Glycosyltransferase Family 27.

    PTM databases

    PhosphoSitei Q8NCW6.

    Polymorphism databases

    DMDMi 51316030.

    Proteomic databases

    MaxQBi Q8NCW6.
    PaxDbi Q8NCW6.
    PRIDEi Q8NCW6.

    Protocols and materials databases

    DNASUi 63917.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000415421 ; ENSP00000410093 ; ENSG00000178234 . [Q8NCW6-2 ]
    ENST00000430044 ; ENSP00000395122 ; ENSG00000178234 . [Q8NCW6-1 ]
    ENST00000434507 ; ENSP00000416787 ; ENSG00000178234 . [Q8NCW6-1 ]
    GeneIDi 63917.
    KEGGi hsa:63917.
    UCSCi uc003wku.2. human. [Q8NCW6-1 ]
    uc003wkv.1. human. [Q8NCW6-2 ]

    Organism-specific databases

    CTDi 63917.
    GeneCardsi GC07P151722.
    H-InvDB HIX0007236.
    HGNCi HGNC:19875. GALNT11.
    HPAi HPA039330.
    MIMi 615130. gene.
    neXtProti NX_Q8NCW6.
    PharmGKBi PA134911149.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG239675.
    HOGENOMi HOG000038227.
    HOVERGENi HBG051699.
    InParanoidi Q8NCW6.
    KOi K00710.
    OMAi MIFNERD.
    OrthoDBi EOG7J9VP2.
    PhylomeDBi Q8NCW6.
    TreeFami TF313267.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BRENDAi 2.4.1.41. 2681.
    Reactomei REACT_115606. O-linked glycosylation of mucins.
    SABIO-RK Q8NCW6.

    Miscellaneous databases

    ChiTaRSi GALNT11. human.
    GenomeRNAii 63917.
    NextBioi 65642.
    PROi Q8NCW6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NCW6.
    Bgeei Q8NCW6.
    CleanExi HS_GALNT11.
    Genevestigatori Q8NCW6.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR027791. Galactosyl_T_C.
    IPR001173. Glyco_trans_2-like.
    IPR029044. Nucleotide-diphossugar_trans.
    IPR000772. Ricin_B_lectin.
    [Graphical view ]
    Pfami PF02709. Glyco_transf_7C. 1 hit.
    PF00535. Glycos_transf_2. 1 hit.
    PF00652. Ricin_B_lectin. 1 hit.
    [Graphical view ]
    SMARTi SM00458. RICIN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50370. SSF50370. 1 hit.
    SSF53448. SSF53448. 1 hit.
    PROSITEi PS50231. RICIN_B_LECTIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Functional conservation of subfamilies of putative UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferases in Drosophila, Caenorhabditis elegans, and mammals. One subfamily composed of l(2)35Aa is essential in Drosophila."
      Schwientek T., Bennett E.P., Flores C., Thacker J., Hollmann M., Reis C.A., Behrens J., Mandel U., Keck B., Schaefer M.A., Haselmann K., Zubarev R., Roepstorff P., Burchell J.M., Taylor-Papadimitriou J., Hollingsworth M.A., Clausen H.
      J. Biol. Chem. 277:22623-22638(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    2. Bennett E.P.
      Submitted (SEP-2011) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO 14-15; 119; 295; 310; 365 AND 369.
    3. "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 1).
      Tissue: Colon, Kidney epithelium and Subthalamic nucleus.
    4. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [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 2).
      Tissue: Placenta.
    6. "Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning."
      Fakhro K.A., Choi M., Ware S.M., Belmont J.W., Towbin J.A., Lifton R.P., Khokha M.K., Brueckner M.
      Proc. Natl. Acad. Sci. U.S.A. 108:2915-2920(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: POSSIBLE INVOLVEMENT IN HETEROTAXY.
    7. "The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality."
      Boskovski M.T., Yuan S., Pedersen N.B., Goth C.K., Makova S., Clausen H., Brueckner M., Khokha M.K.
      Nature 504:456-459(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF HIS-247, INTERACTION WITH NOTCH1.
    8. Cited for: VARIANT TYR-197.

    Entry informationi

    Entry nameiGLT11_HUMAN
    AccessioniPrimary (citable) accession number: Q8NCW6
    Secondary accession number(s): B3KWF4
    , Q6PCD1, Q9H6C2, Q9H6Z5, Q9UDR8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: August 16, 2004
    Last modified: October 1, 2014
    This is version 109 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 7
      Human chromosome 7: 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