XYLT1 | ENSG00000103489 | NCBI 64131

Details for: XYLT1

Gene ID: 64131

Symbol: XYLT1

Ensembl ID: ENSG00000103489

Description: xylosyltransferase 1

Associated with

A tetrasaccharide linker sequence is required for gag synthesis
(R-HSA-1971475)
Chondroitin sulfate/dermatan sulfate metabolism
(R-HSA-1793185)
Glycosaminoglycan metabolism
(R-HSA-1630316)
Heparan sulfate/heparin (hs-gag) metabolism
(R-HSA-1638091)
Metabolism
(R-HSA-1430728)
Metabolism of carbohydrates
(R-HSA-71387)
Chondroitin sulfate biosynthetic process
(GO:0030206)
Chondroitin sulfate proteoglycan biosynthetic process
(GO:0050650)
Embryonic skeletal system development
(GO:0048706)
Extracellular space
(GO:0005615)
Glycosaminoglycan biosynthetic process
(GO:0006024)
Glycosaminoglycan metabolic process
(GO:0030203)
Golgi cis cisterna
(GO:0000137)
Golgi membrane
(GO:0000139)
Heparan sulfate proteoglycan biosynthetic process
(GO:0015012)
Metal ion binding
(GO:0046872)
Ossification involved in bone maturation
(GO:0043931)
Protein xylosyltransferase activity
(GO:0030158)
Proteoglycan biosynthetic process
(GO:0030166)

Other Information

Proteins

Xylosyltransferase 1

Genular Protein ID: 915511615

Symbol: XYLT1_HUMAN

Name: Xylosyltransferase 1

UniProtKB Accession Codes:

Q86Y38 Q9H1B6

Database IDs:

Citations:

PubMed ID: 15461586

Title: Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity.

PubMed ID: 15461586

DOI: 10.1042/bj20041206

PubMed ID: 11099377

Title: Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II.

PubMed ID: 11099377

DOI: 10.1006/jmbi.2000.4261

PubMed ID: 11087729

Title: First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells.

PubMed ID: 11087729

DOI: 10.1074/jbc.m005111200

PubMed ID: 11814476

Title: Xylosyltransferase activity in seminal plasma of infertile men.

PubMed ID: 11814476

DOI: 10.1016/s0009-8981(01)00793-8

PubMed ID: 15294915

Title: Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity.

PubMed ID: 15294915

DOI: 10.1074/jbc.m401340200

PubMed ID: 17189265

Title: Human xylosyltransferase II is involved in the biosynthesis of the uniform tetrasaccharide linkage region in chondroitin sulfate and heparan sulfate proteoglycans.

PubMed ID: 17189265

DOI: 10.1074/jbc.m611665200

PubMed ID: 29681470

Title: Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1.

PubMed ID: 29681470

DOI: 10.1016/j.str.2018.03.014

PubMed ID: 16571645

Title: Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.

PubMed ID: 16571645

DOI: 10.1136/jmg.2006.040972

PubMed ID: 24581741

Title: XYLT1 mutations in Desbuquois dysplasia type 2.

PubMed ID: 24581741

DOI: 10.1016/j.ajhg.2014.01.020

PubMed ID: 23982343

Title: The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

PubMed ID: 23982343

DOI: 10.1007/s00439-013-1351-y

PubMed ID: 28462984

Title: Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

PubMed ID: 28462984

DOI: 10.1002/ajmg.a.38244

Sequence Information:

Length: 959
Mass: 107569
Checksum: 056FC3F66EFD4D81
Sequence:

MVAAPCARRL ARRSHSALLA ALTVLLLQTL VVWNFSSLDS GAGERRGGAA VGGGEQPPPA 
PAPRRERRDL PAEPAAARGG GGGGGGGGGG RGPQARARGG GPGEPRGQQP ASRGALPARA 
LDPHPSPLIT LETQDGYFSH RPKEKVRTDS NNENSVPKDF ENVDNSNFAP RTQKQKHQPE 
LAKKPPSRQK ELLKRKLEQQ EKGKGHTFPG KGPGEVLPPG DRAAANSSHG KDVSRPPHAR 
KTGGSSPETK YDQPPKCDIS GKEAISALSR AKSKHCRQEI GETYCRHKLG LLMPEKVTRF 
CPLEGKANKN VQWDEDSVEY MPANPVRIAF VLVVHGRASR QLQRMFKAIY HKDHFYYIHV 
DKRSNYLHRQ VLQVSRQYSN VRVTPWRMAT IWGGASLLST YLQSMRDLLE MTDWPWDFFI 
NLSAADYPIR TNDQLVAFLS RYRDMNFLKS HGRDNARFIR KQGLDRLFLE CDAHMWRLGD 
RRIPEGIAVD GGSDWFLLNR RFVEYVTFST DDLVTKMKQF YSYTLLPAES FFHTVLENSP 
HCDTMVDNNL RITNWNRKLG CKCQYKHIVD WCGCSPNDFK PQDFHRFQQT ARPTFFARKF 
EAVVNQEIIG QLDYYLYGNY PAGTPGLRSY WENVYDEPDG IHSLSDVTLT LYHSFARLGL 
RRAETSLHTD GENSCRYYPM GHPASVHLYF LADRFQGFLI KHHATNLAVS KLETLETWVM 
PKKVFKIASP PSDFGRLQFS EVGTDWDAKE RLFRNFGGLL GPMDEPVGMQ KWGKGPNVTV 
TVIWVDPVNV IAATYDILIE STAEFTHYKP PLNLPLRPGV WTVKILHHWV PVAETKFLVA 
PLTFSNRQPI KPEEALKLHN GPLRNAYMEQ SFQSLNPVLS LPINPAQVEQ ARRNAASTGT 
ALEGWLDSLV GGMWTAMDIC ATGPTACPVM QTCSQTAWSS FSPDPKSELG AVKPDGRLR

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: XYLT1

Associated with

Other Information

Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity. PubMed ID: 15461586

Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II. PubMed ID: 11099377

First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells. PubMed ID: 11087729

Xylosyltransferase activity in seminal plasma of infertile men. PubMed ID: 11814476

Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity. PubMed ID: 15294915

Human xylosyltransferase II is involved in the biosynthesis of the uniform tetrasaccharide linkage region in chondroitin sulfate and heparan sulfate proteoglycans. PubMed ID: 17189265

Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1. PubMed ID: 29681470

Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. PubMed ID: 16571645

XYLT1 mutations in Desbuquois dysplasia type 2. PubMed ID: 24581741

The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. PubMed ID: 23982343

Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. PubMed ID: 28462984