Q9UKY4 · POMT2_HUMAN
- ProteinProtein O-mannosyl-transferase 2
- GenePOMT2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids750 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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:14699049, PubMed:28512129).
Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).
Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).
Catalytic activity
- a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a di-trans,poly-cis-dolichyl phosphate + H+
a di-trans,poly-cis-dolichyl β-D-mannosyl phosphate RHEA-COMP:19501 + RHEA-COMP:9863 = RHEA-COMP:13546 + a di-trans,poly-cis-dolichyl phosphate RHEA-COMP:19498 + CHEBI:15378
Activity regulation
Slightly activated by Mg2+ and inhibited by both Ca+ and Mn2+. EDTA ha no effect on activity in vitro.
Pathway
Protein modification; protein glycosylation.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | endoplasmic reticulum | |
Cellular Component | endoplasmic reticulum membrane | |
Cellular Component | nucleolus | |
Cellular Component | nucleoplasm | |
Molecular Function | dolichyl-phosphate-mannose-protein mannosyltransferase activity | |
Molecular Function | mannosyltransferase activity | |
Molecular Function | metal ion binding | |
Biological Process | basement membrane organization | |
Biological Process | dentate gyrus development | |
Biological Process | positive regulation of protein O-linked glycosylation | |
Biological Process | protein O-linked mannosylation | |
Biological Process | reactive gliosis |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameProtein O-mannosyl-transferase 2
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9UKY4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Endoplasmic reticulum membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 54-74 | Helical | ||||
Sequence: AVGWWALLALVTLLSFATRFH | ||||||
Transmembrane | 100-120 | Helical | ||||
Sequence: TFFFDVHPPLGKMLIGLAGYL | ||||||
Transmembrane | 146-166 | Helical | ||||
Sequence: GFCAFLGSWLVPFAYLTVLDL | ||||||
Transmembrane | 191-211 | Helical | ||||
Sequence: QYILLDPILMFFIMAAMLSMV | ||||||
Transmembrane | 231-251 | Helical | ||||
Sequence: LTGVSLAGALGVKFVGLFIIL | ||||||
Transmembrane | 283-303 | Helical | ||||
Sequence: VLCLIVLPLALYTATFAVHFM | ||||||
Transmembrane | 596-616 | Helical | ||||
Sequence: VVWWLNLLSIALYLLSGSIIA | ||||||
Transmembrane | 643-663 | Helical | ||||
Sequence: VLLGWTLHYFPFFLMGRVLYF | ||||||
Transmembrane | 665-685 | Helical | ||||
Sequence: HYFPAMLFSSMLTGILWDTLL | ||||||
Transmembrane | 700-720 | Helical | ||||
Sequence: GIHVAGILSLLLGTAYSFYLF |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
- Note
- DescriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, 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.
- See alsoMIM:613150
Natural variants in MDDGA2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065038 | 198 | I>N | in MDDGA2; dbSNP:rs267606972 | |
VAR_065040 | 353 | G>S | in MDDGA2; dbSNP:rs267606970 | |
VAR_065041 | 373 | V>F | in MDDGA2; dbSNP:rs267606965 | |
VAR_065042 | 413 | R>P | in MDDGA2; dbSNP:rs190285831 | |
VAR_065043 | 444-445 | IN>LLWQ | in MDDGA2 | |
VAR_068968 | 478 | H>R | in MDDGA2; dbSNP:rs765346043 | |
VAR_065044 | 482 | G>V | in MDDGA2; dbSNP:rs267606968 | |
VAR_065045 | 666 | Y>C | in MDDGB2 and MDDGA2; dbSNP:rs200198778 | |
VAR_065047 | 726 | G>E | in MDDGA2 and MDDGB2; dbSNP:rs267606969 |
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2)
- Note
- DescriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities.
- See alsoMIM:613156
Natural variants in MDDGB2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065039 | 246 | G>D | in MDDGB2; dbSNP:rs267606966 | |
VAR_065045 | 666 | Y>C | in MDDGB2 and MDDGA2; dbSNP:rs200198778 | |
VAR_065046 | 717 | F>S | in MDDGB2 | |
VAR_065047 | 726 | G>E | in MDDGA2 and MDDGB2; dbSNP:rs267606969 | |
VAR_065048 | 748 | W>R | in MDDGB2; dbSNP:rs267606964 |
Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)
- Note
- DescriptionAn autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal.
- See alsoMIM:613158
Natural variants in MDDGC2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065037 | 184 | T>M | in MDDGC2; dbSNP:rs267606971 | |
VAR_065049 | 748 | W>S | in MDDGC2; dbSNP:rs267606967 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_022083 | 54 | in dbSNP:rs8177536 | |||
Sequence: A → E | ||||||
Natural variant | VAR_065037 | 184 | in MDDGC2; dbSNP:rs267606971 | |||
Sequence: T → M | ||||||
Natural variant | VAR_065038 | 198 | in MDDGA2; dbSNP:rs267606972 | |||
Sequence: I → N | ||||||
Natural variant | VAR_065039 | 246 | in MDDGB2; dbSNP:rs267606966 | |||
Sequence: G → D | ||||||
Natural variant | VAR_065040 | 353 | in MDDGA2; dbSNP:rs267606970 | |||
Sequence: G → S | ||||||
Natural variant | VAR_065041 | 373 | in MDDGA2; dbSNP:rs267606965 | |||
Sequence: V → F | ||||||
Natural variant | VAR_065042 | 413 | in MDDGA2; dbSNP:rs190285831 | |||
Sequence: R → P | ||||||
Natural variant | VAR_065043 | 444-445 | in MDDGA2 | |||
Sequence: IN → LLWQ | ||||||
Natural variant | VAR_068968 | 478 | in MDDGA2; dbSNP:rs765346043 | |||
Sequence: H → R | ||||||
Natural variant | VAR_065044 | 482 | in MDDGA2; dbSNP:rs267606968 | |||
Sequence: G → V | ||||||
Natural variant | VAR_065045 | 666 | in MDDGB2 and MDDGA2; dbSNP:rs200198778 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_065046 | 717 | in MDDGB2 | |||
Sequence: F → S | ||||||
Natural variant | VAR_065047 | 726 | in MDDGA2 and MDDGB2; dbSNP:rs267606969 | |||
Sequence: G → E | ||||||
Natural variant | VAR_065048 | 748 | in MDDGB2; dbSNP:rs267606964 | |||
Sequence: W → R | ||||||
Natural variant | VAR_065049 | 748 | in MDDGC2; dbSNP:rs267606967 | |||
Sequence: W → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 956 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data), glycosylation.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000121488 | 1-750 | UniProt | Protein O-mannosyl-transferase 2 | |||
Sequence: MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGALGVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF | |||||||
Modified residue | 41 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 41 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Glycosylation | 98 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 330 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 445 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 528 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 583 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Post-translational modification
N-glycosylated.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in testis; detected at low levels in most tissues.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with POMT1.
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-26 | Disordered | ||||
Sequence: MPPATGGGLAESELRPRRGRCGPQAA | ||||||
Domain | 334-390 | MIR 1 | ||||
Sequence: PEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKH | ||||||
Domain | 403-459 | MIR 2 | ||||
Sequence: VEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVV | ||||||
Domain | 464-521 | MIR 3 | ||||
Sequence: GNRIKVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDH |
Sequence similarities
Belongs to the glycosyltransferase 39 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9UKY4-1
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.
- Name1
- Length750
- Mass (Da)84,214
- Last updated2003-06-20 v2
- Checksum79732D6C4978CFB9
Q9UKY4-2
- Name2
- NoteMay be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
- Differences from canonical
- 83-750: Missing
Computationally mapped potential isoform sequences
There are 33 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YJQ7 | H0YJQ7_HUMAN | POMT2 | 597 | ||
H0YJK9 | H0YJK9_HUMAN | POMT2 | 75 | ||
H0YJJ4 | H0YJJ4_HUMAN | POMT2 | 193 | ||
H0YJA9 | H0YJA9_HUMAN | POMT2 | 71 | ||
A0A804HHT3 | A0A804HHT3_HUMAN | POMT2 | 64 | ||
A0A804HIS8 | A0A804HIS8_HUMAN | POMT2 | 56 | ||
A0A804HJ43 | A0A804HJ43_HUMAN | POMT2 | 57 | ||
A0A804HIM0 | A0A804HIM0_HUMAN | POMT2 | 176 | ||
A0A804HIP6 | A0A804HIP6_HUMAN | POMT2 | 99 | ||
A0A804HIT3 | A0A804HIT3_HUMAN | POMT2 | 774 | ||
A0A0J9YVW4 | A0A0J9YVW4_HUMAN | POMT2 | 219 | ||
A0A804HIA6 | A0A804HIA6_HUMAN | POMT2 | 40 | ||
A0A804HIH0 | A0A804HIH0_HUMAN | POMT2 | 101 | ||
A0A804HIE7 | A0A804HIE7_HUMAN | POMT2 | 64 | ||
A0A804HLA4 | A0A804HLA4_HUMAN | POMT2 | 59 | ||
A0A804HLC4 | A0A804HLC4_HUMAN | POMT2 | 47 | ||
A0A804HLK1 | A0A804HLK1_HUMAN | POMT2 | 58 | ||
A0A804HJS8 | A0A804HJS8_HUMAN | POMT2 | 73 | ||
A0A804HK17 | A0A804HK17_HUMAN | POMT2 | 148 | ||
A0A804HK33 | A0A804HK33_HUMAN | POMT2 | 77 | ||
A0A804HJN3 | A0A804HJN3_HUMAN | POMT2 | 799 | ||
A0A804HJB4 | A0A804HJB4_HUMAN | POMT2 | 83 | ||
A0A804HJG3 | A0A804HJG3_HUMAN | POMT2 | 78 | ||
A0A804HJH6 | A0A804HJH6_HUMAN | POMT2 | 35 | ||
A0A804HJH9 | A0A804HJH9_HUMAN | POMT2 | 35 | ||
A0A804HKW3 | A0A804HKW3_HUMAN | POMT2 | 54 | ||
A0A804HKT3 | A0A804HKT3_HUMAN | POMT2 | 703 | ||
A0A804HL51 | A0A804HL51_HUMAN | POMT2 | 48 | ||
A0A804HKR6 | A0A804HKR6_HUMAN | POMT2 | 68 | ||
A0A804HKX8 | A0A804HKX8_HUMAN | POMT2 | 51 | ||
A0A804HKY4 | A0A804HKY4_HUMAN | POMT2 | 33 | ||
A0A804HKG4 | A0A804HKG4_HUMAN | POMT2 | 43 | ||
A0A804HKL3 | A0A804HKL3_HUMAN | POMT2 | 199 |
Sequence caution
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 53 | in Ref. 1; AAF14118/AAM12046 | ||||
Sequence: E → Q | ||||||
Alternative sequence | VSP_041457 | 83-750 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF105020 EMBL· GenBank· DDBJ | AAF14118.1 EMBL· GenBank· DDBJ | mRNA | ||
AY090480 EMBL· GenBank· DDBJ | AAM12046.1 EMBL· GenBank· DDBJ | mRNA | ||
BX248027 EMBL· GenBank· DDBJ | CAD62348.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AC007954 EMBL· GenBank· DDBJ | AAF62558.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AC007375 EMBL· GenBank· DDBJ | AAF63184.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC031651 EMBL· GenBank· DDBJ | AAH31651.1 EMBL· GenBank· DDBJ | mRNA | ||
AL353956 EMBL· GenBank· DDBJ | CAB89256.1 EMBL· GenBank· DDBJ | mRNA |