Human Gene EXTL3 (ENST00000220562.9) from GENCODE V44
Description: Homo sapiens exostosin like glycosyltransferase 3 (EXTL3), transcript variant 1, mRNA. (from RefSeq NM_001440)
RefSeq Summary (NM_001440): This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012].
Gencode Transcript: ENST00000220562.9
Gencode Gene: ENSG00000012232.10
Transcript (Including UTRs)
Position: hg38 chr8:28,701,501-28,755,599 Size: 54,099 Total Exon Count: 7 Strand: +
Coding Region
Position: hg38 chr8:28,716,060-28,750,866 Size: 34,807 Coding Exon Count: 5
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: EXTL3_HUMAN
DESCRIPTION: RecName: Full=Exostosin-like 3; EC=2.4.1.223; AltName: Full=EXT-related protein 1; AltName: Full=Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; AltName: Full=Hereditary multiple exostoses gene isolog; AltName: Full=Multiple exostosis-like protein 3; AltName: Full=Putative tumor suppressor protein EXTL3;
FUNCTION: Probable glycosyltransferase (By similarity).CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine + beta-D- glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl- (1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D- glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl- (1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan.PATHWAY: Glycan metabolism; heparan sulfate biosynthesis.SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein.TISSUE SPECIFICITY: Ubiquitous.SIMILARITY: Belongs to the glycosyltransferase 47 family.CAUTION: It is uncertain whether Met-1, Met-6 or Met-20 is the initiator.SEQUENCE CAUTION: Sequence=BAA25445.2; Type=Erroneous initiation;WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Exostosin-like 3; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_531";
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: EXTL3
Diseases sorted by gene-association score: immunoskeletal dysplasia with neurodevelopmental abnormalities * (1200), hereditary multiple exostoses (20), latent syphilis (18), tertiary syphilis (17), primary syphilis (17), tertiary neurosyphilis (17), yaws (17), syphilitic meningitis (17), tabes dorsalis (17), asymptomatic neurosyphilis (16), late congenital syphilis (16), parenchymatous neurosyphilis (16), early yaws (16), congenital syphilis (13), trichomoniasis (11), exostosis (11), neuroretinitis (11), syphilis (10), hereditary multiple osteochondromas (9), secondary syphilis (9), vaginal discharge (8), primary bacterial infectious disease (7), optic papillitis (7), chorioretinitis (6), urethritis (5), vaginal disease (5)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR004263 - Exostosin
IPR015338 - HexNAc_Trfase_a
Pfam Domains: PF03016 - Exostosin family
PF09258 - Glycosyl transferase family 64 domain
ModBase Predicted Comparative 3D Structure on O43909
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
AB011091 - Homo sapiens KIAA0519 mRNA for KIAA0519 protein.AF001690 - Homo sapiens EXT like protein 3 (EXTL3) mRNA, complete cds.AB007042 - Homo sapiens EXTR1 mRNA, complete cds.AF083551 - Homo sapiens exostosin (EXTL3) mRNA, complete cds.JD504566 - Sequence 485590 from Patent EP1572962.JD044803 - Sequence 25827 from Patent EP1572962.JD302482 - Sequence 283506 from Patent EP1572962.JD111121 - Sequence 92145 from Patent EP1572962.JD078308 - Sequence 59332 from Patent EP1572962.AF029231 - Homo sapiens EXT homolog mRNA, complete cds.JD291921 - Sequence 272945 from Patent EP1572962.JD114146 - Sequence 95170 from Patent EP1572962.BC006363 - Homo sapiens exostoses (multiple)-like 3, mRNA (cDNA clone MGC:12750 IMAGE:4131101), complete cds.GQ900931 - Homo sapiens clone HEL-T-43 epididymis secretory sperm binding protein mRNA, complete cds.DQ594727 - Homo sapiens piRNA piR-60839, complete sequence.JD484469 - Sequence 465493 from Patent EP1572962.JD324629 - Sequence 305653 from Patent EP1572962.CU675363 - Synthetic construct Homo sapiens gateway clone IMAGE:100017843 5' read EXTL3 mRNA.AB385343 - Synthetic construct DNA, clone: pF1KA0519, Homo sapiens EXTL3 gene for exostosin-like 3, complete cds, without stop codon, in Flexi system.DQ893883 - Synthetic construct Homo sapiens clone IMAGE:100008343; FLH165239.01L; RZPDo839H09157D exostoses (multiple)-like 3 (EXTL3) gene, encodes complete protein.KJ896790 - Synthetic construct Homo sapiens clone ccsbBroadEn_06184 EXTL3 gene, encodes complete protein.DQ890698 - Synthetic construct clone IMAGE:100003328; FLH165243.01X; RZPDo839H09158D exostoses (multiple)-like 3 (EXTL3) gene, encodes complete protein.BT007353 - Homo sapiens exostoses (multiple)-like 3 mRNA, complete cds.AK294475 - Homo sapiens cDNA FLJ60488 complete cds, highly similar to Exostosin-like 3 (EC 2.4.1.223).U76188 - Homo sapiens EXTL3 (EXTL3) mRNA, partial cds.CR749646 - Homo sapiens mRNA; cDNA DKFZp686C2342 (from clone DKFZp686C2342).AK124619 - Homo sapiens cDNA FLJ42628 fis, clone BRACE3018963, moderately similar to Exostosin-like 3.JD023208 - Sequence 4232 from Patent EP1572962.JD028400 - Sequence 9424 from Patent EP1572962.JD214489 - Sequence 195513 from Patent EP1572962.JD333115 - Sequence 314139 from Patent EP1572962.JD104001 - Sequence 85025 from Patent EP1572962.JD133131 - Sequence 114155 from Patent EP1572962.JD261288 - Sequence 242312 from Patent EP1572962.JD539399 - Sequence 520423 from Patent EP1572962.JD178573 - Sequence 159597 from Patent EP1572962.JD202740 - Sequence 183764 from Patent EP1572962.JD346270 - Sequence 327294 from Patent EP1572962.JD509109 - Sequence 490133 from Patent EP1572962.JD480933 - Sequence 461957 from Patent EP1572962.JD261387 - Sequence 242411 from Patent EP1572962.JD455690 - Sequence 436714 from Patent EP1572962.JD384959 - Sequence 365983 from Patent EP1572962.JD369816 - Sequence 350840 from Patent EP1572962.JD135649 - Sequence 116673 from Patent EP1572962.JD530829 - Sequence 511853 from Patent EP1572962.JD427263 - Sequence 408287 from Patent EP1572962.JD223158 - Sequence 204182 from Patent EP1572962.JD287959 - Sequence 268983 from Patent EP1572962.JD398288 - Sequence 379312 from Patent EP1572962.JD436613 - Sequence 417637 from Patent EP1572962.JD309362 - Sequence 290386 from Patent EP1572962.JD037841 - Sequence 18865 from Patent EP1572962.JD449857 - Sequence 430881 from Patent EP1572962.JD355713 - Sequence 336737 from Patent EP1572962.JD146864 - Sequence 127888 from Patent EP1572962.JD187488 - Sequence 168512 from Patent EP1572962.JD564954 - Sequence 545978 from Patent EP1572962.JD310071 - Sequence 291095 from Patent EP1572962.JD347466 - Sequence 328490 from Patent EP1572962.JD545626 - Sequence 526650 from Patent EP1572962.JD168627 - Sequence 149651 from Patent EP1572962.JD412996 - Sequence 394020 from Patent EP1572962.JD239519 - Sequence 220543 from Patent EP1572962.JD400252 - Sequence 381276 from Patent EP1572962.JD524260 - Sequence 505284 from Patent EP1572962.JD313491 - Sequence 294515 from Patent EP1572962.JD116686 - Sequence 97710 from Patent EP1572962.JD415880 - Sequence 396904 from Patent EP1572962.JD054393 - Sequence 35417 from Patent EP1572962.JD199533 - Sequence 180557 from Patent EP1572962.JD554575 - Sequence 535599 from Patent EP1572962.JD327564 - Sequence 308588 from Patent EP1572962.JD408742 - Sequence 389766 from Patent EP1572962.DQ591966 - Homo sapiens piRNA piR-59078, complete sequence.JD532808 - Sequence 513832 from Patent EP1572962.JD110299 - Sequence 91323 from Patent EP1572962.JD283410 - Sequence 264434 from Patent EP1572962.JD199738 - Sequence 180762 from Patent EP1572962.JD481736 - Sequence 462760 from Patent EP1572962.JD104716 - Sequence 85740 from Patent EP1572962.JD071585 - Sequence 52609 from Patent EP1572962.JD479008 - Sequence 460032 from Patent EP1572962.JD254042 - Sequence 235066 from Patent EP1572962.JD396932 - Sequence 377956 from Patent EP1572962.JD459916 - Sequence 440940 from Patent EP1572962.HZ483118 - JP 2015535430-A/3624: TERMINALLY MODIFIED RNA.HZ793049 - JP 2016504050-A/4794: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.JC515781 - Sequence 6034 from Patent WO2014113089.LQ073369 - Sequence 3693 from Patent EP2964234.MA646870 - JP 2017113010-A/4794: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.MA734754 - JP 2017140048-A/3624: TERMINALLY MODIFIED RNA.JD196161 - Sequence 177185 from Patent EP1572962.JD140170 - Sequence 121194 from Patent EP1572962.JD142618 - Sequence 123642 from Patent EP1572962.JD142619 - Sequence 123643 from Patent EP1572962.MA803923 - JP 2018183181-A/4794: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00534 - Glycosaminoglycan biosynthesis - heparan sulfatehsa01100 - Metabolic pathways
BioCyc Knowledge Library PWY-6558 - heparan sulfate biosynthesis (late stages)
PWY-6564 - heparan sulfate biosynthesis
Reactome (by CSHL, EBI, and GO) Protein O43909 (Reactome details) participates in the following event(s):R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-381070 IRE1alpha activates chaperones
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-392499 Metabolism of proteins
Other Names for This Gene
Alternate Gene Symbols: D3DST8, ENST00000220562.1, ENST00000220562.2, ENST00000220562.3, ENST00000220562.4, ENST00000220562.5, ENST00000220562.6, ENST00000220562.7, ENST00000220562.8, EXTL1L, EXTL3_HUMAN, EXTR1, KIAA0519, NM_001440, O00225, O43909, Q53XT3, uc003xgz.1, uc003xgz.2, uc003xgz.3, uc003xgz.4UCSC ID: ENST00000220562.9RefSeq Accession: NM_001440
Protein: O43909
(aka EXTL3_HUMAN or EXL3_HUMAN)
CCDS: CCDS6070.1
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.