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Protein

Exostosin-like 1

Gene

EXTL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.

Pathway:iprotein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

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 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:3515. EXTL1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 99CytoplasmicSequence Analysis
Transmembranei10 – 3021Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini31 – 676646LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27927.

Polymorphism and mutation databases

BioMutaiEXTL1.
DMDMi93141259.

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.
GenevisibleiQ92935. HS.

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...

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. EXT_C.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR11062: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:
EMBLi
GenBanki
DDBJi
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.

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

Protein family/group databases

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

PTM databases

PhosphoSiteiQ92935.

Polymorphism and mutation databases

BioMutaiEXTL1.
DMDMi93141259.

Proteomic databases

PaxDbiQ92935.
PRIDEiQ92935.

Protocols and materials databases

DNASUi2134.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2134.
GeneCardsiGC01P026346.
HGNCiHGNC:3515. EXTL1.
HPAiHPA037749.
MIMi601738. gene.
neXtProtiNX_Q92935.
PharmGKBiPA27927.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG272619.
GeneTreeiENSGT00550000074496.
HOGENOMiHOG000266990.
HOVERGENiHBG003459.
InParanoidiQ92935.
KOiK02368.
OMAiNATFCLI.
OrthoDBiEOG7RBZ7Z.
PhylomeDBiQ92935.
TreeFamiTF314231.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS08259-MONOMER.
SignaLinkiQ92935.

Miscellaneous databases

GeneWikiiEXTL1.
GenomeRNAii2134.
NextBioi8623.
PROiQ92935.
SOURCEiSearch...

Gene expression databases

BgeeiQ92935.
CleanExiHS_EXTL1.
GenevisibleiQ92935. HS.

Family and domain databases

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

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: June 24, 2015
This is version 127 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.