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Q9Y6A1

- POMT1_HUMAN

UniProt

Q9Y6A1 - POMT1_HUMAN

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Protein

Protein O-mannosyl-transferase 1

Gene
POMT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.2 Publications

Catalytic activityi

Dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein.1 Publication

Enzyme regulationi

Slightly activated by Mg2+ and inhibited by both Ca+ and Mn2+. EDTA ha no effect on activity in vitro.1 Publication

Pathwayi

GO - Molecular functioni

  1. dolichyl-phosphate-mannose-protein mannosyltransferase activity Source: UniProtKB-EC
  2. mannosyltransferase activity Source: ProtInc
  3. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. carbohydrate metabolic process Source: ProtInc
  2. extracellular matrix organization Source: Ensembl
  3. mannosylation Source: GOC
  4. multicellular organismal development Source: ProtInc
  5. protein O-linked glycosylation Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Metal-binding

Enzyme and pathway databases

UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT39. Glycosyltransferase Family 39.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein O-mannosyl-transferase 1 (EC:2.4.1.109)
Alternative name(s):
Dolichyl-phosphate-mannose--protein mannosyltransferase 1
Gene namesi
Name:POMT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:9202. POMT1.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei8 – 2821Helical; Reviewed predictionAdd
BLAST
Transmembranei40 – 6021Helical; Reviewed predictionAdd
BLAST
Transmembranei68 – 8821Helical; Reviewed predictionAdd
BLAST
Transmembranei99 – 11921Helical; Reviewed predictionAdd
BLAST
Transmembranei122 – 14221Helical; Reviewed predictionAdd
BLAST
Transmembranei154 – 17421Helical; Reviewed predictionAdd
BLAST
Transmembranei183 – 20321Helical; Reviewed predictionAdd
BLAST
Transmembranei206 – 22621Helical; Reviewed predictionAdd
BLAST
Transmembranei269 – 28921Helical; Reviewed predictionAdd
BLAST
Transmembranei597 – 61721Helical; Reviewed predictionAdd
BLAST
Transmembranei636 – 65621Helical; Reviewed predictionAdd
BLAST
Transmembranei661 – 68121Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. acrosomal vesicle Source: Ensembl
  2. endoplasmic reticulum Source: ProtInc
  3. endoplasmic reticulum membrane Source: UniProtKB
  4. integral component of membrane Source: ProtInc
  5. sarcoplasmic reticulum Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651G → R in MDDGB1. 3 Publications
VAR_065027
Natural varianti140 – 1401Missing in MDDGB1. 1 Publication
VAR_065030
Natural varianti537 – 5371S → R in MDDGA1 and MDDGB1. 2 Publications
Corresponds to variant rs150367385 [ dbSNP | Ensembl ].
VAR_026697
Natural varianti582 – 5821W → C in MDDGB1. 1 Publication
VAR_065034
Natural varianti590 – 5901Q → H in MDDGB1. 2 Publications
VAR_065035
Natural varianti669 – 6691A → T in MDDGB1. 1 Publication
VAR_065036
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761G → R in MDDGA1. 1 Publication
Corresponds to variant rs28941782 [ dbSNP | Ensembl ].
VAR_015734
Natural varianti105 – 1051R → C in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
VAR_065028
Natural varianti105 – 1051R → H in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
VAR_065029
Natural varianti207 – 2071G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
VAR_065031
Natural varianti421 – 4211Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication
VAR_022662
Natural varianti428 – 4281V → D in MDDGA1. 1 Publication
VAR_015735
Natural varianti537 – 5371S → R in MDDGA1 and MDDGB1. 2 Publications
Corresponds to variant rs150367385 [ dbSNP | Ensembl ].
VAR_026697
Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti200 – 2001A → P in MDDGC1; a common founder mutation. 1 Publication
VAR_022661

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

Organism-specific databases

MIMi236670. phenotype.
609308. phenotype.
613155. phenotype.
Orphaneti86812. Autosomal recessive limb-girdle muscular dystrophy type 2K.
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.
899. Walker-Warburg syndrome.
PharmGKBiPA33527.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 747747Protein O-mannosyl-transferase 1PRO_0000121484Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi435 – 4351N-linked (GlcNAc...) Reviewed prediction
Glycosylationi471 – 4711N-linked (GlcNAc...)1 Publication
Glycosylationi539 – 5391N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9Y6A1.
PaxDbiQ9Y6A1.
PRIDEiQ9Y6A1.

PTM databases

PhosphoSiteiQ9Y6A1.

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

ArrayExpressiQ9Y6A1.
BgeeiQ9Y6A1.
GenevestigatoriQ9Y6A1.

Interactioni

Subunit structurei

Interacts with POMT2 Inferred.

Protein-protein interaction databases

BioGridi115834. 2 interactions.
IntActiQ9Y6A1. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6A1.
SMRiQ9Y6A1. Positions 319-476.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini318 – 38164MIR 1Add
BLAST
Domaini392 – 44958MIR 2Add
BLAST
Domaini453 – 51361MIR 3Add
BLAST

Sequence similaritiesi

Contains 3 MIR domains.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1928.
HOVERGENiHBG053637.
InParanoidiQ9Y6A1.
KOiK00728.
OMAiLLFFYVH.
OrthoDBiEOG79KPDP.
PhylomeDBiQ9Y6A1.
TreeFamiTF300552.

Family and domain databases

InterProiIPR027005. GlyclTrfase_39_like.
IPR003342. Glyco_trans_39.
IPR016093. MIR_motif.
[Graphical view]
PANTHERiPTHR10050. PTHR10050. 1 hit.
PfamiPF02815. MIR. 1 hit.
PF02366. PMT. 1 hit.
[Graphical view]
SMARTiSM00472. MIR. 3 hits.
[Graphical view]
SUPFAMiSSF82109. SSF82109. 1 hit.
PROSITEiPS50919. MIR. 3 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q9Y6A1-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY    50
ISFYMKQIFF LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP 100
VWSLRLLPAL AGALSVPMAY QIVLELHFSH CAAMGAALLM LIENALITQS 150
RLMLLESVLI FFNLLAVLSY LKFFNCQKHS PFSLSWWFWL TLTGVACSCA 200
VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVGADVQC CMRPACMGQM 250
QMSQGVCVFC HLLARAVALL VIPVVLYLLF FYVHLILVFR SGPHDQIMSS 300
AFQASLEGGL ARITQGQPLE VAFGSQVTLR NVFGKPVPCW LHSHQDTYPM 350
IYENGRGSSH QQQVTCYPFK DVNNWWIVKD PRRHQLVVSS PPRPVRHGDM 400
VQLVHGMTTR SLNTHDVAAP LSPHSQEVSC YIDYNISMPA QNLWRLEIVN 450
RGSDTDVWKT ILSEVRFVHV NTSAVLKLSG AHLPDWGYRQ LEIVGEKLSR 500
GYHGSTVWNV EEHRYGASQE QRERERELHS PAQVDVSRNL SFMARFSELQ 550
WRMLALRSDD SEHKYSSSPL EWVTLDTNIA YWLHPRTSAQ IHLLGNIVIW 600
VSGSLALAIY ALLSLWYLLR RRRNVHDLPQ DAWLRWVLAG ALCAGGWAVN 650
YLPFFLMEKT LFLYHYLPAL TFQILLLPVV LQHISDHLCR SQLQRSIFSA 700
LVVAWYSSAC HVSNTLRPLT YGDKSLSPHE LKALRWKDSW DILIRKH 747
Length:747
Mass (Da):84,881
Last modified:May 3, 2011 - v3
Checksum:i6E1D26C87FF5D9C5
GO
Isoform 2 (identifier: Q9Y6A1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     234-255: Missing.

Show »
Length:725
Mass (Da):82,567
Checksum:iB58F992ADA9DF552
GO
Isoform 3 (identifier: Q9Y6A1-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-54: Missing.
     234-255: Missing.

Show »
Length:671
Mass (Da):76,294
Checksum:i51114C186E12533A
GO
Isoform 4 (identifier: Q9Y6A1-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-117: Missing.
     234-255: Missing.

Show »
Length:608
Mass (Da):69,531
Checksum:i1A8B7C19BF49EBC2
GO

Sequence cautioni

The sequence BAA91135.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAA91190.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651G → R in MDDGB1. 3 Publications
VAR_065027
Natural varianti76 – 761G → R in MDDGA1. 1 Publication
Corresponds to variant rs28941782 [ dbSNP | Ensembl ].
VAR_015734
Natural varianti105 – 1051R → C in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
VAR_065028
Natural varianti105 – 1051R → H in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
VAR_065029
Natural varianti140 – 1401Missing in MDDGB1. 1 Publication
VAR_065030
Natural varianti200 – 2001A → P in MDDGC1; a common founder mutation. 1 Publication
VAR_022661
Natural varianti207 – 2071G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication
VAR_065031
Natural varianti251 – 2511Q → R.2 Publications
Corresponds to variant rs2296949 [ dbSNP | Ensembl ].
VAR_034390
Natural varianti251 – 2511Q → W Requires 2 nucleotide substitutions.
Corresponds to variant rs3887873 [ dbSNP | Ensembl ].
VAR_034389
Natural varianti285 – 2851L → F.1 Publication
VAR_065032
Natural varianti327 – 3271V → I.
Corresponds to variant rs4740164 [ dbSNP | Ensembl ].
VAR_034391
Natural varianti421 – 4211Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication
VAR_022662
Natural varianti428 – 4281V → D in MDDGA1. 1 Publication
VAR_015735
Natural varianti433 – 4331D → E.
Corresponds to variant rs11243406 [ dbSNP | Ensembl ].
VAR_034392
Natural varianti522 – 5221R → K.1 Publication
Corresponds to variant rs117985576 [ dbSNP | Ensembl ].
VAR_065033
Natural varianti537 – 5371S → R in MDDGA1 and MDDGB1. 2 Publications
Corresponds to variant rs150367385 [ dbSNP | Ensembl ].
VAR_026697
Natural varianti582 – 5821W → C in MDDGB1. 1 Publication
VAR_065034
Natural varianti590 – 5901Q → H in MDDGB1. 2 Publications
VAR_065035
Natural varianti669 – 6691A → T in MDDGB1. 1 Publication
VAR_065036

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 117117Missing in isoform 4. VSP_041024Add
BLAST
Alternative sequencei1 – 5454Missing in isoform 3. VSP_007590Add
BLAST
Alternative sequencei234 – 25522Missing in isoform 2, isoform 3 and isoform 4. VSP_007591Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti37 – 371P → Q in AAH22877. 1 Publication
Sequence conflicti143 – 1431E → K in AAD41245. 1 Publication
Sequence conflicti147 – 1471I → V in BAG58462. 1 Publication
Sequence conflicti178 – 1781K → E in AAH22877. 1 Publication
Sequence conflicti377 – 3771I → V in AAH22877. 1 Publication
Sequence conflicti665 – 6651H → L in BAC11269. 1 Publication
Sequence conflicti696 – 6972SI → NS in AAD41245. 1 Publication
Sequence conflicti739 – 7391S → G in BAA91135. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF095136 mRNA. Translation: AAD41245.1.
AF095150
, AF095138, AF095139, AF095140, AF095141, AF095142, AF095143, AF095144, AF095145, AF095146, AF095147, AF095148, AF095149 Genomic DNA. Translation: AAD41246.1.
AK000391 mRNA. Translation: BAA91135.1. Different initiation.
AK000475 mRNA. Translation: BAA91190.1. Different initiation.
AK295561 mRNA. Translation: BAG58462.1.
AK074874 mRNA. Translation: BAG52022.1.
AK074888 mRNA. Translation: BAC11269.1.
AL358781 Genomic DNA. Translation: CAI40220.1.
AL358781 Genomic DNA. Translation: CAI40221.1.
AL358781 Genomic DNA. Translation: CAI40223.1.
CH471090 Genomic DNA. Translation: EAW87978.1.
BC022877 mRNA. Translation: AAH22877.3.
BC065268 mRNA. Translation: AAH65268.1.
CCDSiCCDS43894.1. [Q9Y6A1-2]
CCDS43895.1. [Q9Y6A1-3]
CCDS48045.1. [Q9Y6A1-4]
CCDS6943.1. [Q9Y6A1-1]
RefSeqiNP_001070833.1. NM_001077365.1. [Q9Y6A1-2]
NP_001070834.1. NM_001077366.1. [Q9Y6A1-3]
NP_001129585.1. NM_001136113.1. [Q9Y6A1-2]
NP_001129586.1. NM_001136114.1. [Q9Y6A1-4]
NP_009102.3. NM_007171.3.
XP_005272213.1. XM_005272156.1. [Q9Y6A1-1]
UniGeneiHs.522449.

Genome annotation databases

EnsembliENST00000341012; ENSP00000343034; ENSG00000130714. [Q9Y6A1-3]
ENST00000372228; ENSP00000361302; ENSG00000130714. [Q9Y6A1-1]
ENST00000402686; ENSP00000385797; ENSG00000130714. [Q9Y6A1-2]
ENST00000404875; ENSP00000384531; ENSG00000130714. [Q9Y6A1-4]
ENST00000423007; ENSP00000404119; ENSG00000130714. [Q9Y6A1-2]
GeneIDi10585.
KEGGihsa:10585.
UCSCiuc004cau.3. human. [Q9Y6A1-2]
uc004cav.3. human. [Q9Y6A1-1]
uc004caw.3. human. [Q9Y6A1-3]
uc011mck.2. human. [Q9Y6A1-4]

Polymorphism databases

DMDMi332278226.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF095136 mRNA. Translation: AAD41245.1 .
AF095150
, AF095138 , AF095139 , AF095140 , AF095141 , AF095142 , AF095143 , AF095144 , AF095145 , AF095146 , AF095147 , AF095148 , AF095149 Genomic DNA. Translation: AAD41246.1 .
AK000391 mRNA. Translation: BAA91135.1 . Different initiation.
AK000475 mRNA. Translation: BAA91190.1 . Different initiation.
AK295561 mRNA. Translation: BAG58462.1 .
AK074874 mRNA. Translation: BAG52022.1 .
AK074888 mRNA. Translation: BAC11269.1 .
AL358781 Genomic DNA. Translation: CAI40220.1 .
AL358781 Genomic DNA. Translation: CAI40221.1 .
AL358781 Genomic DNA. Translation: CAI40223.1 .
CH471090 Genomic DNA. Translation: EAW87978.1 .
BC022877 mRNA. Translation: AAH22877.3 .
BC065268 mRNA. Translation: AAH65268.1 .
CCDSi CCDS43894.1. [Q9Y6A1-2 ]
CCDS43895.1. [Q9Y6A1-3 ]
CCDS48045.1. [Q9Y6A1-4 ]
CCDS6943.1. [Q9Y6A1-1 ]
RefSeqi NP_001070833.1. NM_001077365.1. [Q9Y6A1-2 ]
NP_001070834.1. NM_001077366.1. [Q9Y6A1-3 ]
NP_001129585.1. NM_001136113.1. [Q9Y6A1-2 ]
NP_001129586.1. NM_001136114.1. [Q9Y6A1-4 ]
NP_009102.3. NM_007171.3.
XP_005272213.1. XM_005272156.1. [Q9Y6A1-1 ]
UniGenei Hs.522449.

3D structure databases

ProteinModelPortali Q9Y6A1.
SMRi Q9Y6A1. Positions 319-476.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115834. 2 interactions.
IntActi Q9Y6A1. 1 interaction.

Protein family/group databases

CAZyi GT39. Glycosyltransferase Family 39.

PTM databases

PhosphoSitei Q9Y6A1.

Polymorphism databases

DMDMi 332278226.

Proteomic databases

MaxQBi Q9Y6A1.
PaxDbi Q9Y6A1.
PRIDEi Q9Y6A1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

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.3. human. [Q9Y6A1-2 ]
uc004cav.3. human. [Q9Y6A1-1 ]
uc004caw.3. human. [Q9Y6A1-3 ]
uc011mck.2. human. [Q9Y6A1-4 ]

Organism-specific databases

CTDi 10585.
GeneCardsi GC09P134378.
GeneReviewsi POMT1.
HGNCi HGNC:9202. POMT1.
MIMi 236670. phenotype.
607423. gene.
609308. phenotype.
613155. phenotype.
neXtProti NX_Q9Y6A1.
Orphaneti 86812. Autosomal recessive limb-girdle muscular dystrophy type 2K.
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.
899. Walker-Warburg syndrome.
PharmGKBi PA33527.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1928.
HOVERGENi HBG053637.
InParanoidi Q9Y6A1.
KOi K00728.
OMAi LLFFYVH.
OrthoDBi EOG79KPDP.
PhylomeDBi Q9Y6A1.
TreeFami TF300552.

Enzyme and pathway databases

UniPathwayi UPA00378 .

Miscellaneous databases

ChiTaRSi POMT1. human.
GeneWikii POMT1.
GenomeRNAii 10585.
NextBioi 40189.
PROi Q9Y6A1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y6A1.
Bgeei Q9Y6A1.
Genevestigatori Q9Y6A1.

Family and domain databases

InterProi IPR027005. GlyclTrfase_39_like.
IPR003342. Glyco_trans_39.
IPR016093. MIR_motif.
[Graphical view ]
PANTHERi PTHR10050. PTHR10050. 1 hit.
Pfami PF02815. MIR. 1 hit.
PF02366. PMT. 1 hit.
[Graphical view ]
SMARTi SM00472. MIR. 3 hits.
[Graphical view ]
SUPFAMi SSF82109. SSF82109. 1 hit.
PROSITEi PS50919. MIR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1."
    Perez Jurado L.A., Coloma A., Cruces J.
    Genomics 58:171-180(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, VARIANT ARG-251.
    Tissue: Fetal brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-747 (ISOFORM 1), VARIANT ARG-251.
    Tissue: Hippocampus, Ileal mucosa, Signet-ring cell carcinoma and Teratocarcinoma.
  3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
  4. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis and Uterus.
  7. Cited for: FUNCTION, VARIANTS MDDGA1 ARG-76 AND ASP-428.
  8. "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity."
    Manya H., Chiba A., Yoshida A., Wang X., Chiba Y., Jigami Y., Margolis R.U., Endo T.
    Proc. Natl. Acad. Sci. U.S.A. 101:500-505(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, ENZYME REGULATION, SUBCELLULAR LOCATION.
  9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-471.
    Tissue: Liver.
  10. "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG."
    Kim D.-S., Hayashi Y.K., Matsumoto H., Ogawa M., Noguchi S., Murakami N., Sakuta R., Mochizuki M., Michele D.E., Campbell K.P., Nonaka I., Nishino I.
    Neurology 62:1009-1011(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MDDGA1 LEU-421 DEL.
  11. Cited for: VARIANT MDDGA1 ARG-537.
  12. "An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene."
    Balci B., Uyanik G., Dincer P., Gross C., Willer T., Talim B., Haliloglu G., Kale G., Hehr U., Winkler J., Topaloglu H.
    Neuromuscul. Disord. 15:271-275(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MDDGC1 PRO-200.
  13. "The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation."
    van Reeuwijk J., Maugenre S., van den Elzen C., Verrips A., Bertini E., Muntoni F., Merlini L., Scheffer H., Brunner H.G., Guicheney P., van Bokhoven H.
    Hum. Mutat. 27:453-459(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MDDGB1 ARG-65; MET-140 DEL; CYS-582 AND HIS-590, VARIANTS MDDGA1 CYS-105; HIS-105 AND VAL-207, VARIANTS PHE-285 AND LYS-522.
  14. Cited for: VARIANTS MDDGB1 ARG-65; HIS-590 AND THR-669.
  15. Cited for: VARIANTS MDDGB1 ARG-65 AND ARG-537.

Entry informationi

Entry nameiPOMT1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6A1
Secondary accession number(s): B3KQG0
, B4DIF0, Q5JT01, Q5JT06, Q5JT08, Q8NC91, Q8TCA9, Q9NX32, Q9NX82, Q9UNT2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: May 3, 2011
Last modified: July 9, 2014
This is version 134 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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