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EXTL3 exostosin like glycosyltransferase 3 [ Homo sapiens (human) ]

Gene ID: 2137, updated on 16-Aug-2021

Summary

Official Symbol
EXTL3provided by HGNC
Official Full Name
exostosin like glycosyltransferase 3provided by HGNC
Primary source
HGNC:HGNC:3518
See related
Ensembl:ENSG00000012232 MIM:605744
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
RPR; BOTV; REGR; EXTR1; ISDNA; EXTL1L
Summary
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]
Expression
Ubiquitous expression in heart (RPKM 14.3), brain (RPKM 13.9) and 25 other tissues See more
Orthologs
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Genomic context

See EXTL3 in Genome Data Viewer
Location:
8p21.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (28607736..28755599)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (28559018..28613116)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1329 Neighboring gene RNA, 5S ribosomal pseudogene 259 Neighboring gene frizzled class receptor 3 Neighboring gene EXTL3 antisense RNA 1 Neighboring gene integrator complex subunit 9 Neighboring gene ribosomal protein L36a pseudogene 32 Neighboring gene homeobox containing 1 Neighboring gene uncharacterized LOC105379346

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunoskeletal dysplasia with neurodevelopmental abnormalities
MedGen: C4479452 OMIM: 617425 GeneReviews: Not available
Compare labs
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with EXTL3; predicted interaction to be within the endoplasmic reticulum PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42628, KIAA0519, DKFZp686C2342

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables glycosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in heparan sulfate proteoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in heparan sulfate proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
exostosin-like 3
Names
EXT-related 1
epididymis secretory sperm binding protein
exostoses (multiple)-like 3
exostosin tumor-like 3
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
hereditary multiple exostoses gene isolog
putative tumor suppressor protein EXTL3
reg receptor
NP_001431.1
XP_011542742.1
XP_024302862.1
XP_024302863.1
XP_024302864.1

NCBI Reference Sequences (RefSeq)

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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_001440.4NP_001431.1  exostosin-like 3

    See identical proteins and their annotated locations for NP_001431.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
    Source sequence(s)
    AB011091, AC131969, AW105691, DA757362
    Consensus CDS
    CCDS6070.1
    UniProtKB/Swiss-Prot
    O43909
    Related
    ENSP00000220562.4, ENST00000220562.9
    Conserved Domains (3) summary
    pfam03016
    Location:190500
    Exostosin; Exostosin family
    pfam07926
    Location:71150
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    pfam09258
    Location:663900
    Glyco_transf_64; Glycosyl transferase family 64 domain

RNA

  1. NR_073468.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AB011091, AC131969, AW105691, DA222815, DA757362
  2. NR_073469.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AF029231, AW105691, BI911162, DA757362

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    28607736..28755599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447096.1XP_024302864.1  exostosin-like 3 isoform X1

    Conserved Domains (3) summary
    pfam03016
    Location:190500
    Exostosin; Exostosin family
    pfam07926
    Location:71150
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    pfam09258
    Location:663900
    Glyco_transf_64; Glycosyl transferase family 64 domain
  2. XM_024447094.1XP_024302862.1  exostosin-like 3 isoform X1

    Conserved Domains (3) summary
    pfam03016
    Location:190500
    Exostosin; Exostosin family
    pfam07926
    Location:71150
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    pfam09258
    Location:663900
    Glyco_transf_64; Glycosyl transferase family 64 domain
  3. XM_024447095.1XP_024302863.1  exostosin-like 3 isoform X1

    Conserved Domains (3) summary
    pfam03016
    Location:190500
    Exostosin; Exostosin family
    pfam07926
    Location:71150
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    pfam09258
    Location:663900
    Glyco_transf_64; Glycosyl transferase family 64 domain
  4. XM_011544440.3XP_011542742.1  exostosin-like 3 isoform X1

    See identical proteins and their annotated locations for XP_011542742.1

    UniProtKB/Swiss-Prot
    O43909
    Conserved Domains (3) summary
    pfam03016
    Location:190500
    Exostosin; Exostosin family
    pfam07926
    Location:71150
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    pfam09258
    Location:663900
    Glyco_transf_64; Glycosyl transferase family 64 domain
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