Reviewed, UniProtKB/Swiss-Prot Q92935 (EXTL1_HUMAN)

Names and origin

Protein names

Recommended name:
    Exostosin-like 1
    EC=2.4.1.224
Alternative name(s):
    Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    Exostosin-L
    Multiple exostosis-like protein

Gene names

Name:	EXTL1
Synonyms:	EXTL

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	676 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	skeletal system development Ref.1 Traceable author statement. Source: ProtInc
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell intrinsic to endoplasmic reticulum membrane Inferred from electronic annotation. Source: InterPro
Molecular function	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Inferred from electronic annotation. Source: EC protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GRB2	P62993	1	EBI-1760167,EBI-401755

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 676	676	Exostosin-like 1		PRO_0000149653
Regions
	Topological domain	1 – 9	9	Cytoplasmic Potential
	Transmembrane	10 – 30	21	Signal-anchor for type II membrane protein Potential
	Topological domain	31 – 676	646	Lumenal Potential
Amino acid modifications
	Glycosylation	269	1	N-linked (GlcNAc...) Potential
	Disulfide bond	584 ↔ 634		By similarity
Natural variations
	Natural variant	163	1	R → H: dbSNP rs34277678.		VAR_049228
	Natural variant	379	1	H → N: dbSNP rs2736831. Ref.1 Ref.2 Ref.3		VAR_012830

Sequences

	Sequence		Length	Mass (Da)
	Q92935-1 [UniParc]. Last modified April 18, 2006. Version 2. Checksum: AAC7E7360E2B2776	FASTA	676	74,697
	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

References

	« Hide 'large scale' referencesShow '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: 9037597] [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: 10480354] [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: 10575224] [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: 16710414] [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: 15489334] [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 , 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.
IPI	IPI00024293.
RefSeq	NP_004446.2.
UniGene	Hs.150956
3D structure databases
SMR	Q92935. Positions 432-665.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92935. 1 interaction.
STRING	Q92935.
Protein family/group databases
CAZy	GT47. Glycosyltransferase Family 47. GT64. Glycosyltransferase Family 64.
Proteomic databases
PRIDE	Q92935.
Genome annotation databases
Ensembl	ENST00000374280; ENSP00000363398; ENSG00000158008; Homo sapiens. [Genome view]
GeneID	2134.
KEGG	hsa:2134.
UCSC	uc001blf.1. human.
Organism-specific databases
CTD	2134.
GeneCards	GC01P026220.
HGNC	HGNC:3515. EXTL1.
MIM	601738. gene.
PharmGKB	PA27927.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07169.
HOGENOM	HBG713745.
HOVERGEN	Q92935.
InParanoid	Q92935.
OMA	RYYHTLF.
OrthoDB	EOG9DJNGS.
PhylomeDB	Q92935.
Enzyme and pathway databases
BRENDA	2.4.1.224. 247.
Gene expression databases
ArrayExpress	Q92935.
Bgee	Q92935.
CleanEx	HS_EXTL1.
Genevestigator	Q92935.
GermOnline	ENSG00000158008. Homo sapiens.
Family and domain databases
InterPro	IPR004263. Exostosin. IPR015338. HexNAc_Trfase_a. [Graphical view]
Pfam	PF03016. Exostosin. 1 hit. PF09258. Glyco_transf_64. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	8623.
SOURCE	Search...

Entry information

Entry name

EXTL1_HUMAN

Accession

Primary (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:	January 19, 2010
This is version 82 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.