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Q92935

- EXTL1_HUMAN

UniProt

Q92935 - EXTL1_HUMAN

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Protein

Exostosin-like 1

Gene

EXTL1

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

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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00550000074496.
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

        10         20         30         40         50
MQSWRRRKSL WLALSASWLL LVLLGGFSLL RLALPPRPRP GASQGWPRWL
60 70 80 90 100
DAELLQSFSQ PGELPEDAVS PPQAPHGGSC NWESCFDTSK CRGDGLKVFV
110 120 130 140 150
YPAVGTISET HRRILASIEG SRFYTFSPAG ACLLLLLSLD AQTGECSSMP
160 170 180 190 200
LQWNRGRNHL VLRLHPAPCP RTFQLGQAMV AEASPTVDSF RPGFDVALPF
210 220 230 240 250
LPEAHPLRGG APGQLRQHSP QPGVALLALE EERGGWRTAD TGSSACPWDG
260 270 280 290 300
RCEQDPGPGQ TQRQETLPNA TFCLISGHRP EAASRFLQAL QAGCIPVLLS
310 320 330 340 350
PRWELPFSEV IDWTKAAIVA DERLPLQVLA ALQEMSPARV LALRQQTQFL
360 370 380 390 400
WDAYFSSVEK VIHTTLEVIQ DRIFGTSAHP SLLWNSPPGA LLALSTFSTS
410 420 430 440 450
PQDFPFYYLQ QGSRPEGRFS ALIWVGPPGQ PPLKLIQAVA GSQHCAQILV
460 470 480 490 500
LWSNERPLPS RWPETAVPLT VIDGHRKVSD RFYPYSTIRT DAILSLDARS
510 520 530 540 550
SLSTSEVDFA FLVWQSFPER MVGFLTSSHF WDEAHGGWGY TAERTNEFSM
560 570 580 590 600
VLTTAAFYHR YYHTLFTHSL PKALRTLADE APTCVDVLMN FIVAAVTKLP
610 620 630 640 650
PIKVPYGKQR QEAAPLAPGG PGPRPKPPAP APDCINQIAA AFGHMPLLSS
660 670
RLRLDPVLFK DPVSVQRKKY RSLEKP
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.
GeneTreei ENSGT00550000074496.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 122 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