Format

Send to:

Choose Destination

EXTL1 exostosin like glycosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 2134, updated on 13-Mar-2020

Summary

Official Symbol
EXTL1provided by HGNC
Official Full Name
exostosin like glycosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:3515
See related
Ensembl:ENSG00000158008 MIM:601738
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EXTL
Summary
This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 3.8), heart (RPKM 1.2) and 9 other tissues See more
Orthologs

Genomic context

See EXTL1 in Genome Data Viewer
Location:
1p36.11
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (26021775..26036464)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26348266..26362955)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr1.3691 Neighboring gene RNA, U6 small nuclear 110, pseudogene Neighboring gene platelet activating factor acetylhydrolase 2 Neighboring gene uncharacterized LOC101928216 Neighboring gene solute carrier family 30 member 2 Neighboring gene uncharacterized LOC105376910

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC70794

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transferase activity, transferring glycosyl groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
exostosin-like 1
Names
alpha-N-acetylglucosaminyltransferase II
exostoses (multiple)-like 1
exostosin-L
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase
multiple exostosis-like protein
NP_004446.2
XP_005245836.1
XP_016856139.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004455.3NP_004446.2  exostosin-like 1

    See identical proteins and their annotated locations for NP_004446.2

    Status: REVIEWED

    Source sequence(s)
    AL391650, BC065528, DA182373, R67266
    Consensus CDS
    CCDS271.1
    UniProtKB/Swiss-Prot
    Q92935
    Related
    ENSP00000363398.3, ENST00000374280.4
    Conserved Domains (2) summary
    pfam03016
    Location:92335
    Exostosin; Exostosin family
    pfam09258
    Location:419651
    Glyco_transf_64; Glycosyl transferase family 64 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    26021775..26036464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245779.4XP_005245836.1  exostosin-like 1 isoform X1

    Conserved Domains (2) summary
    pfam03016
    Location:92291
    Exostosin; Exostosin family
    pfam09258
    Location:383615
    Glyco_transf_64; Glycosyl transferase family 64 domain
  2. XM_017000650.2XP_016856139.1  exostosin-like 1 isoform X2

Support Center