pomt1 protein-O-mannosyltransferase 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: pomt1provided by ZNC
Official Full Name: protein-O-mannosyltransferase 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-060929-966
See related: Ensembl:ENSDARG00000067670 AllianceGenome:ZFIN:ZDB-GENE-060929-966
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zPOMT1; zgc:153731
Summary: Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Acts upstream of or within protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including digestive system; immature eye; muscle; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). Orthologous to human POMT1 (protein O-mannosyltransferase 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (51111393..51128031)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (50464800..50481438)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Removal of pomt1 in zebrafish leads to loss of alpha-dystroglycan glycosylation and dystroglycanopathy phenotypes.
Title: Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.
Protein O-mannosylation is necessary for normal embryonic development.
Title: Protein O-mannosylation is necessary for normal embryonic development in zebrafish.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables mannosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within protein O-linked glycosylation	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked mannosylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein O-linked mannosylation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein O-mannosyl-transferase 1

NP_001041532.2

EC 2.4.1.109

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)

NM_001048067.2 → NP_001041532.2 protein O-mannosyl-transferase 1

See identical proteins and their annotated locations for NP_001041532.2

Status: PROVISIONAL

Source sequence(s)

BC124440

UniProtKB/Swiss-Prot

E0CZJ9, F1QF89, Q08C27, Q0PIP3

Related

ENSDARP00000086435.4, ENSDART00000092002.5

Conserved Domains (4) summary

smart00472
Location:436 → 486

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

COG1928
Location:27 → 715

PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

pfam02366
Location:27 → 262

PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase

pfam16192
Location:515 → 713

PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase