Q92935 (EXTL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	EXTL1
Synonyms:	EXTL

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

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

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein glycosylation Inferred from electronic annotation. Source: UniProtKB-UniPathway skeletal system development Traceable author statement Ref.1. Source: ProtInc
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW 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
Complete GO annotation...

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	Helical; 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. Corresponds to variant rs34277678 [ dbSNP | Ensembl ].		VAR_049228
	Natural variant	379	1	H → N. Ref.1 Ref.2 Ref.3 Corresponds to variant rs2736831 [ dbSNP | Ensembl ].		VAR_012830

Sequences

	Sequence		Length	Mass (Da)
	Q92935 [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] [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.

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. NM_004455.2.
UniGene	Hs.150956.
3D structure databases
ProteinModelPortal	Q92935.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92935. 2 interactions.
STRING	9606.ENSP00000363398.
Protein family/group databases
CAZy	GT47. Glycosyltransferase Family 47. GT64. Glycosyltransferase Family 64.
PTM databases
PhosphoSite	Q92935.
Polymorphism databases
DMDM	93141259.
Proteomic databases
PaxDb	Q92935.
PRIDE	Q92935.
Protocols and materials databases
DNASU	2134.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374280; ENSP00000363398; ENSG00000158008.
GeneID	2134.
KEGG	hsa:2134.
UCSC	uc001blf.3. human.
Organism-specific databases
CTD	2134.
GeneCards	GC01P026346.
HGNC	HGNC:3515. EXTL1.
HPA	HPA037749.
MIM	601738. gene.
neXtProt	NX_Q92935.
PharmGKB	PA27927.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG272619.
HOGENOM	HOG000266990.
HOVERGEN	HBG003459.
InParanoid	Q92935.
KO	K02368.
OMA	RYYHTLF.
OrthoDB	EOG47M1XC.
PhylomeDB	Q92935.
Enzyme and pathway databases
BioCyc	MetaCyc:HS08259-MONOMER.
SignaLink	Q92935.
UniPathway	UPA00378.
Gene expression databases
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
GenomeRNAi	2134.
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:	May 29, 2013
This is version 112 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.