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Q92935

- EXTL1_HUMAN

UniProt

Q92935 - EXTL1_HUMAN

Protein

Exostosin-like 1

Gene

EXTL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (18 Apr 2006)
      Previous versions | rss
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    Functioni

    Probable glycosyltransferase.By similarity

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.

    Pathwayi

    GO - Molecular functioni

    1. glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. protein glycosylation Source: UniProtKB-UniPathway
    2. skeletal system development Source: ProtInc

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08259-MONOMER.
    SignaLinkiQ92935.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT47. Glycosyltransferase Family 47.
    GT64. Glycosyltransferase Family 64.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Exostosin-like 1 (EC:2.4.1.224)
    Alternative name(s):
    Exostosin-L
    Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    Multiple exostosis-like protein
    Gene namesi
    Name:EXTL1
    Synonyms:EXTL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:3515. EXTL1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. intrinsic component of endoplasmic reticulum membrane Source: InterPro

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27927.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 676676Exostosin-like 1PRO_0000149653Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi269 – 2691N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi584 ↔ 634By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ92935.
    PRIDEiQ92935.

    PTM databases

    PhosphoSiteiQ92935.

    Expressioni

    Gene expression databases

    BgeeiQ92935.
    CleanExiHS_EXTL1.
    GenevestigatoriQ92935.

    Organism-specific databases

    HPAiHPA037749.

    Interactioni

    Protein-protein interaction databases

    BioGridi108435. 1 interaction.
    IntActiQ92935. 2 interactions.
    STRINGi9606.ENSP00000363398.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92935.
    SMRiQ92935. Positions 433-654.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 99CytoplasmicSequence Analysis
    Topological domaini31 – 676646LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei10 – 3021Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 47 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG272619.
    HOGENOMiHOG000266990.
    HOVERGENiHBG003459.
    InParanoidiQ92935.
    KOiK02368.
    OMAiNATFCLI.
    OrthoDBiEOG7RBZ7Z.
    PhylomeDBiQ92935.
    TreeFamiTF314231.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR004263. Exostosin.
    IPR027675. Exostosin-like_1.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR11062. PTHR11062. 1 hit.
    PTHR11062:SF8. PTHR11062:SF8. 1 hit.
    PfamiPF03016. Exostosin. 1 hit.
    PF09258. Glyco_transf_64. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q92935-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQSWRRRKSL WLALSASWLL LVLLGGFSLL RLALPPRPRP GASQGWPRWL    50
    DAELLQSFSQ PGELPEDAVS PPQAPHGGSC NWESCFDTSK CRGDGLKVFV 100
    YPAVGTISET HRRILASIEG SRFYTFSPAG ACLLLLLSLD AQTGECSSMP 150
    LQWNRGRNHL VLRLHPAPCP RTFQLGQAMV AEASPTVDSF RPGFDVALPF 200
    LPEAHPLRGG APGQLRQHSP QPGVALLALE EERGGWRTAD TGSSACPWDG 250
    RCEQDPGPGQ TQRQETLPNA TFCLISGHRP EAASRFLQAL QAGCIPVLLS 300
    PRWELPFSEV IDWTKAAIVA DERLPLQVLA ALQEMSPARV LALRQQTQFL 350
    WDAYFSSVEK VIHTTLEVIQ DRIFGTSAHP SLLWNSPPGA LLALSTFSTS 400
    PQDFPFYYLQ QGSRPEGRFS ALIWVGPPGQ PPLKLIQAVA GSQHCAQILV 450
    LWSNERPLPS RWPETAVPLT VIDGHRKVSD RFYPYSTIRT DAILSLDARS 500
    SLSTSEVDFA FLVWQSFPER MVGFLTSSHF WDEAHGGWGY TAERTNEFSM 550
    VLTTAAFYHR YYHTLFTHSL PKALRTLADE APTCVDVLMN FIVAAVTKLP 600
    PIKVPYGKQR QEAAPLAPGG PGPRPKPPAP APDCINQIAA AFGHMPLLSS 650
    RLRLDPVLFK DPVSVQRKKY RSLEKP 676
    Length:676
    Mass (Da):74,697
    Last modified:April 18, 2006 - v2
    Checksum:iAAC7E7360E2B2776
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti163 – 1631R → H.
    Corresponds to variant rs34277678 [ dbSNP | Ensembl ].
    VAR_049228
    Natural varianti379 – 3791H → N.3 Publications
    Corresponds to variant rs2736831 [ dbSNP | Ensembl ].
    VAR_012830

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U67191 mRNA. Translation: AAC51141.1.
    AF083633
    , AF083623, AF083624, AF083625, AF083626, AF083627, AF083628, AF083629, AF083630, AF083631, AF083632 Genomic DNA. Translation: AAD02840.1.
    AF153980, AF151391 Genomic DNA. Translation: AAF73172.1.
    AL391650 Genomic DNA. Translation: CAI17130.1.
    BC065528 mRNA. Translation: AAH65528.1.
    CCDSiCCDS271.1.
    RefSeqiNP_004446.2. NM_004455.2.
    UniGeneiHs.150956.

    Genome annotation databases

    EnsembliENST00000374280; ENSP00000363398; ENSG00000158008.
    GeneIDi2134.
    KEGGihsa:2134.
    UCSCiuc001blf.3. human.

    Polymorphism databases

    DMDMi93141259.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Exostosin-like 1

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U67191 mRNA. Translation: AAC51141.1 .
    AF083633
    , AF083623 , AF083624 , AF083625 , AF083626 , AF083627 , AF083628 , AF083629 , AF083630 , AF083631 , AF083632 Genomic DNA. Translation: AAD02840.1 .
    AF153980 , AF151391 Genomic DNA. Translation: AAF73172.1 .
    AL391650 Genomic DNA. Translation: CAI17130.1 .
    BC065528 mRNA. Translation: AAH65528.1 .
    CCDSi CCDS271.1.
    RefSeqi NP_004446.2. NM_004455.2.
    UniGenei Hs.150956.

    3D structure databases

    ProteinModelPortali Q92935.
    SMRi Q92935. Positions 433-654.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108435. 1 interaction.
    IntActi Q92935. 2 interactions.
    STRINGi 9606.ENSP00000363398.

    Protein family/group databases

    CAZyi GT47. Glycosyltransferase Family 47.
    GT64. Glycosyltransferase Family 64.

    PTM databases

    PhosphoSitei Q92935.

    Polymorphism databases

    DMDMi 93141259.

    Proteomic databases

    PaxDbi Q92935.
    PRIDEi Q92935.

    Protocols and materials databases

    DNASUi 2134.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000374280 ; ENSP00000363398 ; ENSG00000158008 .
    GeneIDi 2134.
    KEGGi hsa:2134.
    UCSCi uc001blf.3. human.

    Organism-specific databases

    CTDi 2134.
    GeneCardsi GC01P026346.
    HGNCi HGNC:3515. EXTL1.
    HPAi HPA037749.
    MIMi 601738. gene.
    neXtProti NX_Q92935.
    PharmGKBi PA27927.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG272619.
    HOGENOMi HOG000266990.
    HOVERGENi HBG003459.
    InParanoidi Q92935.
    KOi K02368.
    OMAi NATFCLI.
    OrthoDBi EOG7RBZ7Z.
    PhylomeDBi Q92935.
    TreeFami TF314231.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BioCyci MetaCyc:HS08259-MONOMER.
    SignaLinki Q92935.

    Miscellaneous databases

    GeneWikii EXTL1.
    GenomeRNAii 2134.
    NextBioi 8623.
    PROi Q92935.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q92935.
    CleanExi HS_EXTL1.
    Genevestigatori Q92935.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR004263. Exostosin.
    IPR027675. Exostosin-like_1.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR11062. PTHR11062. 1 hit.
    PTHR11062:SF8. PTHR11062:SF8. 1 hit.
    Pfami PF03016. Exostosin. 1 hit.
    PF09258. Glyco_transf_64. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family."
      Wise C.A., Clines G.A., Massa H., Trask B.J., Lovett M.
      Genome Res. 7:10-16(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASN-379.
    2. "Mutation analysis of hereditary multiple exostoses in the Chinese."
      Xu L., Xia J., Jiang H., Zhou J., Li H., Wang D., Pan Q., Long Z., Fan C., Deng H.-X.
      Hum. Genet. 105:45-50(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-379.
    3. "Refined physical mapping and genomic structure of the EXTL1 gene."
      Wuyts W., Spieker N., Van Roy N., De Boulle K., De Paepe A., Willems P.J., Van Hul W., Versteeg R., Speleman F.
      Cytogenet. Cell Genet. 86:267-270(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-379.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [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].
      Tissue: Skin.

    Entry informationi

    Entry nameiEXTL1_HUMAN
    AccessioniPrimary (citable) accession number: Q92935
    Secondary accession number(s): Q6GSC1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: April 18, 2006
    Last modified: October 1, 2014
    This is version 121 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 1
      Human chromosome 1: 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