UniProtKB - Q9Y6A1 (POMT1_HUMAN)
Protein
Protein O-mannosyl-transferase 1
Gene
POMT1
Organism
Homo sapiens (Human)
Status
Functioni
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:12369018, PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).3 Publications
Catalytic activityi
- dolichyl β-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(α-D-mannosyl)-L-seryl-[protein] + dolichyl phosphate + H+2 PublicationsEC:2.4.1.1092 Publications
- dolichyl β-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(α-D-mannosyl)-L-threonyl-[protein] + dolichyl phosphate + H+2 PublicationsEC:2.4.1.1092 Publications
Activity regulationi
Slightly activated by Mg2+ and inhibited by both Ca+ and Mn2+. EDTA ha no effect on activity in vitro.1 Publication
: protein glycosylation Pathwayi
This protein is involved in the pathway protein glycosylation, which is part of Protein modification.View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.
GO - Molecular functioni
- dolichyl-phosphate-mannose-protein mannosyltransferase activity Source: GO_Central
- mannosyltransferase activity Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- carbohydrate metabolic process Source: ProtInc
- extracellular matrix organization Source: Ensembl
- multicellular organism development Source: ProtInc
- positive regulation of protein O-linked glycosylation Source: Ensembl
- protein O-linked glycosylation Source: Reactome
- protein O-linked mannosylation Source: UniProtKB
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Ligand | Metal-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05428-MONOMER |
BRENDAi | 2.4.1.109, 2681 |
PathwayCommonsi | Q9Y6A1 |
Reactomei | R-HSA-5083629, Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 R-HSA-5083633, Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 R-HSA-5173105, O-linked glycosylation |
UniPathwayi | UPA00378 |
Protein family/group databases
CAZyi | GT39, Glycosyltransferase Family 39 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein O-mannosyl-transferase 1 (EC:2.4.1.1092 Publications)Alternative name(s): Dolichyl-phosphate-mannose--protein mannosyltransferase 1 |
Gene namesi | Name:POMT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9202, POMT1 |
MIMi | 607423, gene |
neXtProti | NX_Q9Y6A1 |
VEuPathDBi | HostDB:ENSG00000130714.15 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: ProtInc
- endoplasmic reticulum membrane Source: UniProtKB
- sarcoplasmic reticulum Source: Ensembl
Other locations
- acrosomal vesicle Source: Ensembl
- integral component of membrane Source: ProtInc
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 8 – 28 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 40 – 60 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 68 – 88 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 99 – 119 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 122 – 142 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 154 – 174 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 183 – 203 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 206 – 226 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 269 – 289 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 597 – 617 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 636 – 656 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 661 – 681 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065027 | 65 | G → R in MDDGB1. 3 PublicationsCorresponds to variant dbSNP:rs119462983EnsemblClinVar. | 1 | |
Natural variantiVAR_065030 | 140 | Missing in MDDGB1. 1 Publication | 1 | |
Natural variantiVAR_026697 | 537 | S → R in MDDGA1 and MDDGB1; likely benign variant. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl. | 1 | |
Natural variantiVAR_065034 | 582 | W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984Ensembl. | 1 | |
Natural variantiVAR_065035 | 590 | Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986Ensembl. | 1 | |
Natural variantiVAR_065036 | 669 | A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987Ensembl. | 1 |
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015734 | 76 | G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782EnsemblClinVar. | 1 | |
Natural variantiVAR_065028 | 105 | R → C in MDDGA1; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs1289335417Ensembl. | 1 | |
Natural variantiVAR_065029 | 105 | R → H in MDDGA1; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs1554772469Ensembl. | 1 | |
Natural variantiVAR_065031 | 207 | G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication | 1 | |
Natural variantiVAR_022662 | 421 | Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication | 1 | |
Natural variantiVAR_015735 | 428 | V → D in MDDGA1. 1 Publication | 1 | |
Natural variantiVAR_026697 | 537 | S → R in MDDGA1 and MDDGB1; likely benign variant. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl. | 1 |
Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022661 | 200 | A → P in MDDGC1; a common founder mutation. 1 PublicationCorresponds to variant dbSNP:rs119462982EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital muscular dystrophy, Disease variant, Dystroglycanopathy, Limb-girdle muscular dystrophy, LissencephalyOrganism-specific databases
DisGeNETi | 10585 |
GeneReviewsi | POMT1 |
MalaCardsi | POMT1 |
MIMi | 236670, phenotype 609308, phenotype 613155, phenotype |
OpenTargetsi | ENSG00000130714 |
Orphaneti | 370959, Congenital muscular dystrophy with cerebellar involvement 370968, Congenital muscular dystrophy with intellectual disability 370980, Congenital muscular dystrophy without intellectual disability 588, Muscle-eye-brain disease 86812, POMT1-related limb-girdle muscular dystrophy R11 899, Walker-Warburg syndrome |
PharmGKBi | PA33527 |
Miscellaneous databases
Pharosi | Q9Y6A1, Tbio |
Genetic variation databases
BioMutai | POMT1 |
DMDMi | 332278226 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000121484 | 1 – 747 | Protein O-mannosyl-transferase 1Add BLAST | 747 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 435 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 471 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 539 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | Q9Y6A1 |
MassIVEi | Q9Y6A1 |
PaxDbi | Q9Y6A1 |
PeptideAtlasi | Q9Y6A1 |
PRIDEi | Q9Y6A1 |
ProteomicsDBi | 86636 [Q9Y6A1-1] 86637 [Q9Y6A1-2] 86638 [Q9Y6A1-3] 86639 [Q9Y6A1-4] |
PTM databases
GlyGeni | Q9Y6A1, 3 sites |
iPTMneti | Q9Y6A1 |
PhosphoSitePlusi | Q9Y6A1 |
Expressioni
Tissue specificityi
Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.
Gene expression databases
Bgeei | ENSG00000130714, Expressed in right testis and 219 other tissues |
ExpressionAtlasi | Q9Y6A1, baseline and differential |
Genevisiblei | Q9Y6A1, HS |
Organism-specific databases
HPAi | ENSG00000130714, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with POMT2.
CuratedBinary interactionsi
Isoform 2 [Q9Y6A1-2]
With | #Exp. | IntAct |
---|---|---|
MEOX2 [Q6FHY5] | 3 | EBI-12337033,EBI-16439278 |
Protein-protein interaction databases
BioGRIDi | 115834, 47 interactors |
IntActi | Q9Y6A1, 28 interactors |
STRINGi | 9606.ENSP00000361302 |
Miscellaneous databases
RNActi | Q9Y6A1, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 318 – 381 | MIR 1PROSITE-ProRule annotationAdd BLAST | 64 | |
Domaini | 392 – 449 | MIR 2PROSITE-ProRule annotationAdd BLAST | 58 | |
Domaini | 453 – 513 | MIR 3PROSITE-ProRule annotationAdd BLAST | 61 |
Sequence similaritiesi
Belongs to the glycosyltransferase 39 family.Curated
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3359, Eukaryota |
GeneTreei | ENSGT00940000158049 |
HOGENOMi | CLU_008438_1_0_1 |
InParanoidi | Q9Y6A1 |
OMAi | DKGIAYW |
OrthoDBi | 203029at2759 |
PhylomeDBi | Q9Y6A1 |
TreeFami | TF300552 |
Family and domain databases
InterProi | View protein in InterPro IPR027005, GlyclTrfase_39-like IPR003342, Glyco_trans_39/83 IPR036300, MIR_dom_sf IPR016093, MIR_motif IPR032421, PMT_4TMC |
PANTHERi | PTHR10050, PTHR10050, 1 hit |
Pfami | View protein in Pfam PF02815, MIR, 1 hit PF02366, PMT, 1 hit PF16192, PMT_4TMC, 1 hit |
SMARTi | View protein in SMART SM00472, MIR, 3 hits |
SUPFAMi | SSF82109, SSF82109, 1 hit |
PROSITEi | View protein in PROSITE PS50919, MIR, 3 hits |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms seem to exist.
This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y6A1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY
60 70 80 90 100
ISFYMKQIFF LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP
110 120 130 140 150
VWSLRLLPAL AGALSVPMAY QIVLELHFSH CAAMGAALLM LIENALITQS
160 170 180 190 200
RLMLLESVLI FFNLLAVLSY LKFFNCQKHS PFSLSWWFWL TLTGVACSCA
210 220 230 240 250
VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVGADVQC CMRPACMGQM
260 270 280 290 300
QMSQGVCVFC HLLARAVALL VIPVVLYLLF FYVHLILVFR SGPHDQIMSS
310 320 330 340 350
AFQASLEGGL ARITQGQPLE VAFGSQVTLR NVFGKPVPCW LHSHQDTYPM
360 370 380 390 400
IYENGRGSSH QQQVTCYPFK DVNNWWIVKD PRRHQLVVSS PPRPVRHGDM
410 420 430 440 450
VQLVHGMTTR SLNTHDVAAP LSPHSQEVSC YIDYNISMPA QNLWRLEIVN
460 470 480 490 500
RGSDTDVWKT ILSEVRFVHV NTSAVLKLSG AHLPDWGYRQ LEIVGEKLSR
510 520 530 540 550
GYHGSTVWNV EEHRYGASQE QRERERELHS PAQVDVSRNL SFMARFSELQ
560 570 580 590 600
WRMLALRSDD SEHKYSSSPL EWVTLDTNIA YWLHPRTSAQ IHLLGNIVIW
610 620 630 640 650
VSGSLALAIY ALLSLWYLLR RRRNVHDLPQ DAWLRWVLAG ALCAGGWAVN
660 670 680 690 700
YLPFFLMEKT LFLYHYLPAL TFQILLLPVV LQHISDHLCR SQLQRSIFSA
710 720 730 740
LVVAWYSSAC HVSNTLRPLT YGDKSLSPHE LKALRWKDSW DILIRKH
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5JT02 | Q5JT02_HUMAN | Dolichyl-phosphate-mannose--protein... | POMT1 | 346 | Annotation score: | ||
Q5JT03 | Q5JT03_HUMAN | Dolichyl-phosphate-mannose--protein... | POMT1 | 296 | Annotation score: | ||
Q5JT04 | Q5JT04_HUMAN | Dolichyl-phosphate-mannose--protein... | POMT1 | 156 | Annotation score: | ||
Q5JT07 | Q5JT07_HUMAN | Dolichyl-phosphate-mannose--protein... | POMT1 | 218 | Annotation score: | ||
Q5JSZ6 | Q5JSZ6_HUMAN | Dolichyl-phosphate-mannose--protein... | POMT1 | 142 | Annotation score: | ||
Q5JT05 | Q5JT05_HUMAN | Dolichyl-phosphate-mannose--protein... | POMT1 | 168 | Annotation score: |
Sequence cautioni
The sequence BAA91135 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA91190 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 37 | P → Q in AAH22877 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 143 | E → K in AAD41245 (PubMed:10366449).Curated | 1 | |
Sequence conflicti | 147 | I → V in BAG58462 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 178 | K → E in AAH22877 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 377 | I → V in AAH22877 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 665 | H → L in BAC11269 (PubMed:16303743).Curated | 1 | |
Sequence conflicti | 696 – 697 | SI → NS in AAD41245 (PubMed:10366449).Curated | 2 | |
Sequence conflicti | 739 | S → G in BAA91135 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065027 | 65 | G → R in MDDGB1. 3 PublicationsCorresponds to variant dbSNP:rs119462983EnsemblClinVar. | 1 | |
Natural variantiVAR_015734 | 76 | G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782EnsemblClinVar. | 1 | |
Natural variantiVAR_065028 | 105 | R → C in MDDGA1; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs1289335417Ensembl. | 1 | |
Natural variantiVAR_065029 | 105 | R → H in MDDGA1; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs1554772469Ensembl. | 1 | |
Natural variantiVAR_065030 | 140 | Missing in MDDGB1. 1 Publication | 1 | |
Natural variantiVAR_022661 | 200 | A → P in MDDGC1; a common founder mutation. 1 PublicationCorresponds to variant dbSNP:rs119462982EnsemblClinVar. | 1 | |
Natural variantiVAR_065031 | 207 | G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication | 1 | |
Natural variantiVAR_034390 | 251 | Q → R2 PublicationsCorresponds to variant dbSNP:rs2296949Ensembl. | 1 | |
Natural variantiVAR_034389 | 251 | Q → W Requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs386738991Ensembl. | 1 | |
Natural variantiVAR_065032 | 285 | L → F1 PublicationCorresponds to variant dbSNP:rs201073763Ensembl. | 1 | |
Natural variantiVAR_034391 | 327 | V → I. Corresponds to variant dbSNP:rs4740164Ensembl. | 1 | |
Natural variantiVAR_022662 | 421 | Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication | 1 | |
Natural variantiVAR_015735 | 428 | V → D in MDDGA1. 1 Publication | 1 | |
Natural variantiVAR_034392 | 433 | D → E. Corresponds to variant dbSNP:rs11243406Ensembl. | 1 | |
Natural variantiVAR_065033 | 522 | R → K1 PublicationCorresponds to variant dbSNP:rs117985576Ensembl. | 1 | |
Natural variantiVAR_026697 | 537 | S → R in MDDGA1 and MDDGB1; likely benign variant. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl. | 1 | |
Natural variantiVAR_065034 | 582 | W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984Ensembl. | 1 | |
Natural variantiVAR_065035 | 590 | Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986Ensembl. | 1 | |
Natural variantiVAR_065036 | 669 | A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041024 | 1 – 117 | Missing in isoform 4. 1 PublicationAdd BLAST | 117 | |
Alternative sequenceiVSP_007590 | 1 – 54 | Missing in isoform 3. 1 PublicationAdd BLAST | 54 | |
Alternative sequenceiVSP_007591 | 234 – 255 | Missing in isoform 2, isoform 3 and isoform 4. 4 PublicationsAdd BLAST | 22 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000341012; ENSP00000343034; ENSG00000130714 [Q9Y6A1-3] ENST00000372228; ENSP00000361302; ENSG00000130714 [Q9Y6A1-1] ENST00000402686; ENSP00000385797; ENSG00000130714 [Q9Y6A1-2] ENST00000404875; ENSP00000384531; ENSG00000130714 [Q9Y6A1-4] ENST00000423007; ENSP00000404119; ENSG00000130714 [Q9Y6A1-2] |
GeneIDi | 10585 |
KEGGi | hsa:10585 |
UCSCi | uc004cau.4, human [Q9Y6A1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115834, 47 interactors |
IntActi | Q9Y6A1, 28 interactors |
STRINGi | 9606.ENSP00000361302 |
Protein family/group databases
CAZyi | GT39, Glycosyltransferase Family 39 |
PTM databases
GlyGeni | Q9Y6A1, 3 sites |
iPTMneti | Q9Y6A1 |
PhosphoSitePlusi | Q9Y6A1 |
Genetic variation databases
BioMutai | POMT1 |
DMDMi | 332278226 |
Proteomic databases
jPOSTi | Q9Y6A1 |
MassIVEi | Q9Y6A1 |
PaxDbi | Q9Y6A1 |
PeptideAtlasi | Q9Y6A1 |
PRIDEi | Q9Y6A1 |
ProteomicsDBi | 86636 [Q9Y6A1-1] 86637 [Q9Y6A1-2] 86638 [Q9Y6A1-3] 86639 [Q9Y6A1-4] |
Protocols and materials databases
Antibodypediai | 31602, 177 antibodies |
Genome annotation databases
Ensembli | ENST00000341012; ENSP00000343034; ENSG00000130714 [Q9Y6A1-3] ENST00000372228; ENSP00000361302; ENSG00000130714 [Q9Y6A1-1] ENST00000402686; ENSP00000385797; ENSG00000130714 [Q9Y6A1-2] ENST00000404875; ENSP00000384531; ENSG00000130714 [Q9Y6A1-4] ENST00000423007; ENSP00000404119; ENSG00000130714 [Q9Y6A1-2] |
GeneIDi | 10585 |
KEGGi | hsa:10585 |
UCSCi | uc004cau.4, human [Q9Y6A1-1] |
Organism-specific databases
CTDi | 10585 |
DisGeNETi | 10585 |
GeneCardsi | POMT1 |
GeneReviewsi | POMT1 |
HGNCi | HGNC:9202, POMT1 |
HPAi | ENSG00000130714, Low tissue specificity |
MalaCardsi | POMT1 |
MIMi | 236670, phenotype 607423, gene 609308, phenotype 613155, phenotype |
neXtProti | NX_Q9Y6A1 |
OpenTargetsi | ENSG00000130714 |
Orphaneti | 370959, Congenital muscular dystrophy with cerebellar involvement 370968, Congenital muscular dystrophy with intellectual disability 370980, Congenital muscular dystrophy without intellectual disability 588, Muscle-eye-brain disease 86812, POMT1-related limb-girdle muscular dystrophy R11 899, Walker-Warburg syndrome |
PharmGKBi | PA33527 |
VEuPathDBi | HostDB:ENSG00000130714.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3359, Eukaryota |
GeneTreei | ENSGT00940000158049 |
HOGENOMi | CLU_008438_1_0_1 |
InParanoidi | Q9Y6A1 |
OMAi | DKGIAYW |
OrthoDBi | 203029at2759 |
PhylomeDBi | Q9Y6A1 |
TreeFami | TF300552 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
BioCyci | MetaCyc:HS05428-MONOMER |
BRENDAi | 2.4.1.109, 2681 |
PathwayCommonsi | Q9Y6A1 |
Reactomei | R-HSA-5083629, Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 R-HSA-5083633, Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 R-HSA-5173105, O-linked glycosylation |
Miscellaneous databases
BioGRID-ORCSi | 10585, 4 hits in 872 CRISPR screens |
ChiTaRSi | POMT1, human |
GeneWikii | POMT1 |
GenomeRNAii | 10585 |
Pharosi | Q9Y6A1, Tbio |
PROi | PR:Q9Y6A1 |
RNActi | Q9Y6A1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130714, Expressed in right testis and 219 other tissues |
ExpressionAtlasi | Q9Y6A1, baseline and differential |
Genevisiblei | Q9Y6A1, HS |
Family and domain databases
InterProi | View protein in InterPro IPR027005, GlyclTrfase_39-like IPR003342, Glyco_trans_39/83 IPR036300, MIR_dom_sf IPR016093, MIR_motif IPR032421, PMT_4TMC |
PANTHERi | PTHR10050, PTHR10050, 1 hit |
Pfami | View protein in Pfam PF02815, MIR, 1 hit PF02366, PMT, 1 hit PF16192, PMT_4TMC, 1 hit |
SMARTi | View protein in SMART SM00472, MIR, 3 hits |
SUPFAMi | SSF82109, SSF82109, 1 hit |
PROSITEi | View protein in PROSITE PS50919, MIR, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | POMT1_HUMAN | |
Accessioni | Q9Y6A1Primary (citable) accession number: Q9Y6A1 Secondary accession number(s): B3KQG0 Q9UNT2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2003 |
Last sequence update: | May 3, 2011 | |
Last modified: | February 10, 2021 | |
This is version 187 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM