Pomt1
Gene Detail

Symbol Name ID

Pomt1 protein-O-mannosyltransferase 1 MGI:2138994

Feature Type

protein coding gene

Genetic Map

Chromosome 2

22.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr2:32236590-32255005 bp, + strand From VEGA annotation of GRCm38   18416 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Pomt1 ± 2 cM)

Protein SuperFamily: dolichyl-phosphate-mannose-protein mannosyltransferase
Gene Tree: Pomt1

Human ortholog

POMT1 protein-O-mannosyltransferase 1 NCBI Gene ID 10585
Human Synonyms: LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
Human Chr9:134378289-134399193 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human POMT1 (3)

Alleles and phenotypes

All alleles(18) : Targeted(4) Gene trapped(14)
 

Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count.

 

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	extracellular matrix organization, protein O-linked glycosylation
Component	acrosomal vesicle, endoplasmic reticulum, ...
Function	dolichyl-phosphate-mannose-protein mannosyltransferase activity, mannosyltransferase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (99)    Tissues (99)   
Theiler Stages: 22, 28

Assay Type	Results
RNA in situ	94
RT-PCR	5

cDNA source data(55)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(56) cDNA(55) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000012947 (Evidence)
Ensembl Gene Model	ENSMUSG00000039254 (Evidence)
Entrez Gene	99011 (Evidence)
UniGene	31192
DFCI	TC1577522, TC1593952, TC1665785
DoTS	DT.101197605, DT.529606, DT.91362716, DT.94238361
NIA Mouse Gene Index	U001613
EC	2.4.1.109
Consensus CDS Project	CCDS15908.1
International Mouse Knockout Project Status	Pomt1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012947	VEGA Gene Model | MGI Sequence Detail	18416	C57BL/6J
transcript	OTTMUST00000031122	VEGA | MGI Sequence Detail	2918	Not Applicable
polypeptide	OTTMUSP00000013931	VEGA | MGI Sequence Detail	746	Not Applicable

All sequences(59) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(77 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR027005	Glycosyltransferase 39 like
InterPro	IPR003342	Glycosyl transferase, family 39
InterPro	IPR016093	MIR motif
Protein Ontology	PR:000013018	protein O-mannosyl-transferase 1

References

(Earliest) J:82929 Henion TR, et al., Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development. Brain Res Mol Brain Res. 2003 Apr 10;112(1-2):177-81
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(39)