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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.

Pathwayi: protein 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

  • IRE1-mediated unfolded protein response Source: Reactome
  • protein glycosylation Source: UniProtKB-UniPathway
  • skeletal system development Source: ProtInc

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS08259-MONOMER.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
SignaLinkiQ92935.
SIGNORiQ92935.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000158008.9.
HGNCiHGNC:3515. EXTL1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 9CytoplasmicSequence analysis9
Transmembranei10 – 30Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini31 – 676LumenalSequence analysisAdd BLAST646

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi2134.
OpenTargetsiENSG00000158008.
PharmGKBiPA27927.

Polymorphism and mutation databases

BioMutaiEXTL1.
DMDMi93141259.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001496531 – 676Exostosin-like 1Add BLAST676

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi269N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi584 ↔ 634By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ92935.
PeptideAtlasiQ92935.
PRIDEiQ92935.

PTM databases

iPTMnetiQ92935.
PhosphoSitePlusiQ92935.

Expressioni

Gene expression databases

BgeeiENSG00000158008.
CleanExiHS_EXTL1.
GenevisibleiQ92935. HS.

Organism-specific databases

HPAiHPA037749.

Interactioni

Protein-protein interaction databases

BioGridi108435. 1 interactor.
IntActiQ92935. 3 interactors.
STRINGi9606.ENSP00000363398.

Structurei

3D structure databases

ProteinModelPortaliQ92935.
SMRiQ92935.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 47 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1021. Eukaryota.
ENOG410XTFH. LUCA.
GeneTreeiENSGT00550000074496.
HOGENOMiHOG000266990.
HOVERGENiHBG003459.
InParanoidiQ92935.
KOiK02368.
OMAiRYYHTLF.
OrthoDBiEOG091G0BDR.
PhylomeDBiQ92935.
TreeFamiTF314231.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiView protein in InterPro
IPR004263. Exostosin.
IPR027675. Exostosin-like_1.
IPR015338. EXT_C.
IPR029044. Nucleotide-diphossugar_trans.
PANTHERiPTHR11062:SF171. PTHR11062:SF171. 1 hit.
PfamiView protein in Pfam
PF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_049228163R → H. Corresponds to variant dbSNP:rs34277678Ensembl.1
Natural variantiVAR_012830379H → N3 PublicationsCorresponds to variant dbSNP:rs2736831Ensembl.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. No translation available.
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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEXTL1_HUMAN
AccessioniPrimary (citable) accession number: Q92935
Secondary accession number(s): Q6GSC1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: April 18, 2006
Last modified: September 27, 2017
This is version 143 of the entry and version 2 of the sequence. See 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