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RXYLT1 ribitol xylosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 10329, updated on 4-Oct-2020

Summary

Official Symbol
RXYLT1provided by HGNC
Official Full Name
ribitol xylosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:13530
See related
Ensembl:ENSG00000118600 MIM:605862
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
TMEM5; HP10481; MDDGA10
Summary
This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Expression
Ubiquitous expression in testis (RPKM 8.9), thyroid (RPKM 7.4) and 25 other tissues See more
Orthologs

Genomic context

See RXYLT1 in Genome Data Viewer
Location:
12q14.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (63779831..63809562)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (64173583..64203338)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DPY19L2 LCR2 recombination region 2 Neighboring gene ribosomal protein S27 pseudogene 24 Neighboring gene RXYLT1 antisense RNA 1 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 4 Neighboring gene microRNA 10527 Neighboring gene SLIT-ROBO Rho GTPase activating protein 1 Neighboring gene ribosomal protein L36a pseudogene 41

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribitol beta-1,4-xylosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribitol beta-1,4-xylosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ribitol beta-1,4-xylosyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
protein O-linked mannosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein O-linked mannosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked mannosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ribitol-5-phosphate xylosyltransferase 1
Names
UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase
transmembrane protein 5
type II membrane protein
NP_001265166.1
NP_055069.1
XP_005268619.1
XP_005268620.1
XP_016874175.1
XP_016874176.1

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.

Genomic

  1. NG_033244.1 RefSeqGene

    Range
    5107..34760
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278237.2NP_001265166.1  ribitol-5-phosphate xylosyltransferase 1 isoform 2

    See identical proteins and their annotated locations for NP_001265166.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC084357, BC013152, BM547839, BX647419
    Consensus CDS
    CCDS61179.1
    UniProtKB/Swiss-Prot
    Q9Y2B1
    UniProtKB/TrEMBL
    G3V1K2
    Related
    ENSP00000440280.1, ENST00000537373.5
  2. NM_014254.3NP_055069.1  ribitol-5-phosphate xylosyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_055069.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC084357, AI458269, AK289382, BC002596
    Consensus CDS
    CCDS8966.1
    UniProtKB/Swiss-Prot
    Q9Y2B1
    Related
    ENSP00000261234.6, ENST00000261234.11

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    63779831..63809562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268562.3XP_005268619.1  ribitol-5-phosphate xylosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_005268619.1

  2. XM_017018686.1XP_016874175.1  ribitol-5-phosphate xylosyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    G3V1K2
  3. XM_017018687.1XP_016874176.1  ribitol-5-phosphate xylosyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    G3V1K2
  4. XM_005268563.3XP_005268620.1  ribitol-5-phosphate xylosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_005268620.1

RNA

  1. XR_001748549.1 RNA Sequence

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