Reactome | POMT1 S727Afs*3 [endoplasmic reticulum membrane]

POMT1 S727Afs*3 [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-5615603

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Protein O-mannosyl-transferase 1 ecNumber2.4.1.109/ecNumber, POMT1_HUMAN

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External Reference Information

External Reference

UniProt:Q9Y6A1 POMT1

Gene Names

POMT1

Chain

chain:1-747

Reference Genes

BioGPS Gene:10585 POMT1

COSMIC (genes):POMT1 POMT1

CTD Gene:10585 POMT1

dbSNP Gene:10585 POMT1

ENSEMBL:ENSG00000130714 POMT1

HGNC:9202 POMT1

KEGG Gene (Homo sapiens):10585 POMT1

Monarch:10585 POMT1

NCBI Gene:10585 POMT1

OMIM:607423 POMT1

UCSC:Q9Y6A1 POMT1

Reference Transcript

Other Identifiers

0002480647

10585

11719913_s_at

11741111_a_at

11741112_x_at

11748935_a_at

11748936_a_at

11749134_x_at

17090568

218476_at

3192174

3192178

3192179

3192180

3192182

3192184

3192186

3192188

3192189

3192190

3192191

3192193

3192194

3192195

3192197

3192199

3192200

3192201

3192203

3192205

3192206

3192207

3192210

3192211

3192212

3192215

3192216

3192217

3192219

46723_at

59713_at

8158866

A_23_P146354

GE58437

GO:0000030

GO:0001669

GO:0003674

GO:0004169

GO:0005515

GO:0005575

GO:0005622

GO:0005737

GO:0005783

GO:0005789

GO:0005975

GO:0006464

GO:0006486

GO:0006493

GO:0007275

GO:0008150

GO:0009058

GO:0016020

GO:0016021

GO:0016529

GO:0016740

GO:0016757

GO:0030198

GO:0031410

GO:0035269

GO:0043167

GO:0043226

GO:0046872

GO:0048856

GO:0097502

GO:1904100

HMNXSV003058165

ILMN_2305721

PH_hs_0023051

TC09000752.hg

g6005839_3p_at

Participates

as a member of

POMT1 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

POMT1 Q303* [endoplasmic reticulum membrane]

POMT1 W705Lfs*26 [endoplasmic reticulum membrane]

POMT1 [endoplasmic reticulum membrane]

POMT1 D723Efs*8 [endoplasmic reticulum membrane]

POMT1 G76R [endoplasmic reticulum membrane]

Modified Residues

Name

Replacement of residues 727 to 728 by AT

Disease

Name	Identifier	Synonyms
muscular dystrophy-dystroglycanopathy	DOID:0050588

Cross References

RefSeq

NP_001129585.1, XP_005272213.1, NP_009102.3, NP_001129586.1, NP_001070834.1, NP_001070833.1

OpenTargets

ENSG00000130714

GeneCards

Q9Y6A1

HPA

ENSG00000130714-POMT1

Ensembl

ENST00000341012, ENSP00000343034, ENSP00000361302, ENST00000372228, ENSG00000130714, ENST00000402686, ENST00000423007, ENSP00000385797, ENSP00000404119

PRO

Q9Y6A1

Pharos - Targets

Q9Y6A1

Orphanet

15122

GlyGen

Q9Y6A1

HMDB Protein

HMDBP00946