GYLTL1B glycosyltransferase-like 1B [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: GYLTL1Bprovided by HGNC
Official Full Name: glycosyltransferase-like 1Bprovided by HGNC
Primary source: HGNC:16522
Locus tag: PP5656
See related: Ensembl:ENSG00000165905; HPRD:13618; MIM:609709; Vega:OTTHUMG00000167037
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LARGE2; PP5656; FLJ35207

Help top of page

Genomic context

Location :: 11p11.2

Sequence :: Chromosome: 11; NC_000011.9 (45943196..45950647)

See GYLTL1B in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
LARGE2 was found to support the maturation of alpha-dystroglycan more effectively than LARGE.
Title: LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Function	Evidence Code	Pubs
transferase activity, transferring glycosyl groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
muscle cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
Golgi membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: glycosyltransferase-like protein LARGE2

Names: glycosyltransferase-like protein LARGE2; like-glycosyltransferase 2; ortholog of mouse glycosyltransferase-like 1B

Help top of page

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)

NM_152312.3 → NP_689525.3 glycosyltransferase-like protein LARGE2 precursor

Status: VALIDATED

Source sequence(s)

AC068385, AK055829, AK096021, BM840813

Consensus CDS

CCDS31473.1

UniProtKB/TrEMBL

B3KP69

UniProtKB/Swiss-Prot

Q8N3Y3

Related

ENSP00000432869, OTTHUMP00000234837, ENST00000531526, OTTHUMT00000392572

Conserved Domains (3) summary

cd06431
Location:97 – 376
Blast Score: 1337

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis.

pfam01501
Location:101 – 345
Blast Score: 213

Glyco_transf_8; Glycosyl transferase family 8

pfam13896
Location:431 – 667
Blast Score: 383

Glyco_transf_49; Glycosyl-transferase for dystroglycan

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

45943196..45950647

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

45650018..45657284

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068385.9 (95587..103038)	None
genomic	CH471064.2	EAW68020.1
		EAW68021.1
mRNA	AF258588.1	AAG23791.1
mRNA	AK055829.1	BAG51581.1
mRNA	AK092526.1	BAC03909.1
mRNA	AK096021.1	BAC04675.1
mRNA	BC037291.2	AAH37291.1
mRNA	BM840813.1	None
other-genetic	DQ891545.2	ABM82471.1
other-genetic	DQ894351.2	ABM85277.1
other-genetic	DQ896868.2	ABM87867.1