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Q92935 (EXTL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:EXTL1
Synonyms:EXTL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length676 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable glycosyltransferase By similarity.

Catalytic activity

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

Protein modification; protein glycosylation.

Subcellular location

Endoplasmic reticulum membrane; Single-pass type II membrane protein By similarity.

Sequence similarities

Belongs to the glycosyltransferase 47 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 676676Exostosin-like 1
PRO_0000149653

Regions

Topological domain1 – 99Cytoplasmic Potential
Transmembrane10 – 3021Helical; Signal-anchor for type II membrane protein; Potential
Topological domain31 – 676646Lumenal Potential

Amino acid modifications

Glycosylation2691N-linked (GlcNAc...) Potential
Disulfide bond584 ↔ 634 By similarity

Natural variations

Natural variant1631R → H.
Corresponds to variant rs34277678 [ dbSNP | Ensembl ].
VAR_049228
Natural variant3791H → N. Ref.1 Ref.2 Ref.3
Corresponds to variant rs2736831 [ dbSNP | Ensembl ].
VAR_012830

Sequences

Sequence LengthMass (Da)Tools
Q92935 [UniParc].

Last modified April 18, 2006. Version 2.
Checksum: AAC7E7360E2B2776

FASTA67674,697
        10         20         30         40         50         60 
MQSWRRRKSL WLALSASWLL LVLLGGFSLL RLALPPRPRP GASQGWPRWL DAELLQSFSQ 

        70         80         90        100        110        120 
PGELPEDAVS PPQAPHGGSC NWESCFDTSK CRGDGLKVFV YPAVGTISET HRRILASIEG 

       130        140        150        160        170        180 
SRFYTFSPAG ACLLLLLSLD AQTGECSSMP LQWNRGRNHL VLRLHPAPCP RTFQLGQAMV 

       190        200        210        220        230        240 
AEASPTVDSF RPGFDVALPF LPEAHPLRGG APGQLRQHSP QPGVALLALE EERGGWRTAD 

       250        260        270        280        290        300 
TGSSACPWDG RCEQDPGPGQ TQRQETLPNA TFCLISGHRP EAASRFLQAL QAGCIPVLLS 

       310        320        330        340        350        360 
PRWELPFSEV IDWTKAAIVA DERLPLQVLA ALQEMSPARV LALRQQTQFL WDAYFSSVEK 

       370        380        390        400        410        420 
VIHTTLEVIQ DRIFGTSAHP SLLWNSPPGA LLALSTFSTS PQDFPFYYLQ QGSRPEGRFS 

       430        440        450        460        470        480 
ALIWVGPPGQ PPLKLIQAVA GSQHCAQILV LWSNERPLPS RWPETAVPLT VIDGHRKVSD 

       490        500        510        520        530        540 
RFYPYSTIRT DAILSLDARS SLSTSEVDFA FLVWQSFPER MVGFLTSSHF WDEAHGGWGY 

       550        560        570        580        590        600 
TAERTNEFSM VLTTAAFYHR YYHTLFTHSL PKALRTLADE APTCVDVLMN FIVAAVTKLP 

       610        620        630        640        650        660 
PIKVPYGKQR QEAAPLAPGG PGPRPKPPAP APDCINQIAA AFGHMPLLSS RLRLDPVLFK 

       670 
DPVSVQRKKY RSLEKP 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Exostosin-like 1

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U67191 mRNA. Translation: AAC51141.1.
AF083633 expand/collapse EMBL AC list , 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.
CCDSCCDS271.1.
RefSeqNP_004446.2. NM_004455.2.
UniGeneHs.150956.

3D structure databases

ProteinModelPortalQ92935.
SMRQ92935. Positions 433-654.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108435. 1 interaction.
IntActQ92935. 2 interactions.
STRING9606.ENSP00000363398.

Protein family/group databases

CAZyGT47. Glycosyltransferase Family 47.
GT64. Glycosyltransferase Family 64.

PTM databases

PhosphoSiteQ92935.

Polymorphism databases

DMDM93141259.

Proteomic databases

PaxDbQ92935.
PRIDEQ92935.

Protocols and materials databases

DNASU2134.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000374280; ENSP00000363398; ENSG00000158008.
GeneID2134.
KEGGhsa:2134.
UCSCuc001blf.3. human.

Organism-specific databases

CTD2134.
GeneCardsGC01P026346.
HGNCHGNC:3515. EXTL1.
HPAHPA037749.
MIM601738. gene.
neXtProtNX_Q92935.
PharmGKBPA27927.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG272619.
HOGENOMHOG000266990.
HOVERGENHBG003459.
InParanoidQ92935.
KOK02368.
OMANATFCLI.
OrthoDBEOG7RBZ7Z.
PhylomeDBQ92935.
TreeFamTF314231.

Enzyme and pathway databases

BioCycMetaCyc:HS08259-MONOMER.
SignaLinkQ92935.
UniPathwayUPA00378.

Gene expression databases

BgeeQ92935.
CleanExHS_EXTL1.
GenevestigatorQ92935.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR004263. Exostosin.
IPR027675. Exostosin-like_1.
IPR015338. HexNAc_Trfase_a.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERPTHR11062. PTHR11062. 1 hit.
PTHR11062:SF8. PTHR11062:SF8. 1 hit.
PfamPF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

GeneWikiEXTL1.
GenomeRNAi2134.
NextBio8623.
PROQ92935.
SOURCESearch...

Entry information

Entry nameEXTL1_HUMAN
AccessionPrimary (citable) accession number: Q92935
Secondary accession number(s): Q6GSC1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: April 18, 2006
Last modified: July 9, 2014
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM