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Protein

Protein-L-isoaspartate O-methyltransferase domain-containing protein 1

Gene

PCMTD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei64By similarity1

GO - Molecular functioni

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168300-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein-L-isoaspartate O-methyltransferase domain-containing protein 1
Gene namesi
Name:PCMTD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:30483. PCMTD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi115294.
OpenTargetsiENSG00000168300.
PharmGKBiPA142671194.

Polymorphism and mutation databases

BioMutaiPCMTD1.
DMDMi269849644.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001119252 – 357Protein-L-isoaspartate O-methyltransferase domain-containing protein 1Add BLAST356

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

EPDiQ96MG8.
MaxQBiQ96MG8.
PaxDbiQ96MG8.
PeptideAtlasiQ96MG8.
PRIDEiQ96MG8.

PTM databases

iPTMnetiQ96MG8.
PhosphoSitePlusiQ96MG8.

Expressioni

Gene expression databases

BgeeiENSG00000168300.
CleanExiHS_PCMTD1.
ExpressionAtlasiQ96MG8. baseline and differential.
GenevisibleiQ96MG8. HS.

Organism-specific databases

HPAiHPA025696.

Interactioni

Protein-protein interaction databases

BioGridi125425. 7 interactors.
IntActiQ96MG8. 3 interactors.
STRINGi9606.ENSP00000353739.

Structurei

3D structure databases

ProteinModelPortaliQ96MG8.
SMRiQ96MG8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1661. Eukaryota.
COG2518. LUCA.
GeneTreeiENSGT00510000046651.
HOGENOMiHOG000038039.
HOVERGENiHBG013478.
InParanoidiQ96MG8.
OMAiMEEDHKE.
OrthoDBiEOG091G0S1T.
PhylomeDBiQ96MG8.
TreeFamiTF329329.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR000682. PCMT.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PANTHERiPTHR11579. PTHR11579. 1 hit.
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96MG8-1) [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

        10         20         30         40         50
MGGAVSAGED NDDLIDNLKE AQYIRTERVE QAFRAIDRGD YYLEGYRDNA
60 70 80 90 100
YKDLAWKHGN IHLSAPCIYS EVMEALKLQP GLSFLNLGSG TGYLSTMVGL
110 120 130 140 150
ILGPFGINHG IELHSDVVEY AKEKLESFIK NSDSFDKFEF CEPAFVVGNC
160 170 180 190 200
LQIASDSHQY DRIYCGAGVQ KDHENYMKIL LKVGGILVMP IEDQLTQIMR
210 220 230 240 250
TGQNTWESKN ILAVSFAPLV QPSKNDNGKP DSVGLPPCAV RNLQDLARIY
260 270 280 290 300
IRRTLRNFIN DEMQAKGIPQ RAPPKRKRKR VKQRINTYVF VGNQLIPQPL
310 320 330 340 350
DSEEDEKMEE DNKEEEEKDH NEAMKPEEPP QNLLREKIMK LPLPESLKAY

LTYFRDK
Length:357
Mass (Da):40,675
Last modified:November 24, 2009 - v2
Checksum:i84E98D02156F9C8E
GO
Isoform 2 (identifier: Q96MG8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-137: MGGAVSAGED...FIKNSDSFDK → PSPSAWPARRCPRHR

Note: Incomplete sequence. No experimental confirmation available.
Show »
Length:235
Mass (Da):27,197
Checksum:i05C58610D2A7F702
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti140F → S in AAH10693 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060401312N → I.3 PublicationsCorresponds to variant rs12335014dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0085491 – 137MGGAV…DSFDK → PSPSAWPARRCPRHR in isoform 2. CuratedAdd BLAST137

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056952 mRNA. Translation: BAB71324.1.
AC090186 Genomic DNA. No translation available.
AC103769 Genomic DNA. No translation available.
BC010693 mRNA. Translation: AAH10693.1.
BC032670 mRNA. Translation: AAH32670.1.
BX640885 mRNA. Translation: CAE45939.1.
CCDSiCCDS6148.1. [Q96MG8-1]
RefSeqiNP_001273711.1. NM_001286782.1.
NP_443169.2. NM_052937.3. [Q96MG8-1]
UniGeneiHs.671268.

Genome annotation databases

EnsembliENST00000360540; ENSP00000353739; ENSG00000168300. [Q96MG8-1]
ENST00000522514; ENSP00000428099; ENSG00000168300. [Q96MG8-1]
GeneIDi115294.
KEGGihsa:115294.
UCSCiuc003xqx.6. human. [Q96MG8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056952 mRNA. Translation: BAB71324.1.
AC090186 Genomic DNA. No translation available.
AC103769 Genomic DNA. No translation available.
BC010693 mRNA. Translation: AAH10693.1.
BC032670 mRNA. Translation: AAH32670.1.
BX640885 mRNA. Translation: CAE45939.1.
CCDSiCCDS6148.1. [Q96MG8-1]
RefSeqiNP_001273711.1. NM_001286782.1.
NP_443169.2. NM_052937.3. [Q96MG8-1]
UniGeneiHs.671268.

3D structure databases

ProteinModelPortaliQ96MG8.
SMRiQ96MG8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125425. 7 interactors.
IntActiQ96MG8. 3 interactors.
STRINGi9606.ENSP00000353739.

PTM databases

iPTMnetiQ96MG8.
PhosphoSitePlusiQ96MG8.

Polymorphism and mutation databases

BioMutaiPCMTD1.
DMDMi269849644.

Proteomic databases

EPDiQ96MG8.
MaxQBiQ96MG8.
PaxDbiQ96MG8.
PeptideAtlasiQ96MG8.
PRIDEiQ96MG8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360540; ENSP00000353739; ENSG00000168300. [Q96MG8-1]
ENST00000522514; ENSP00000428099; ENSG00000168300. [Q96MG8-1]
GeneIDi115294.
KEGGihsa:115294.
UCSCiuc003xqx.6. human. [Q96MG8-1]

Organism-specific databases

CTDi115294.
DisGeNETi115294.
GeneCardsiPCMTD1.
H-InvDBHIX0007500.
HGNCiHGNC:30483. PCMTD1.
HPAiHPA025696.
neXtProtiNX_Q96MG8.
OpenTargetsiENSG00000168300.
PharmGKBiPA142671194.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1661. Eukaryota.
COG2518. LUCA.
GeneTreeiENSGT00510000046651.
HOGENOMiHOG000038039.
HOVERGENiHBG013478.
InParanoidiQ96MG8.
OMAiMEEDHKE.
OrthoDBiEOG091G0S1T.
PhylomeDBiQ96MG8.
TreeFamiTF329329.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168300-MONOMER.

Miscellaneous databases

ChiTaRSiPCMTD1. human.
GenomeRNAii115294.
PROiQ96MG8.

Gene expression databases

BgeeiENSG00000168300.
CleanExiHS_PCMTD1.
ExpressionAtlasiQ96MG8. baseline and differential.
GenevisibleiQ96MG8. HS.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR000682. PCMT.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PANTHERiPTHR11579. PTHR11579. 1 hit.
SUPFAMiSSF53335. SSF53335. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPCMD1_HUMAN
AccessioniPrimary (citable) accession number: Q96MG8
Secondary accession number(s): Q96FK9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: November 24, 2009
Last modified: November 2, 2016
This is version 113 of the entry and version 2 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 8
    Human chromosome 8: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.