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Protein

Laforin, isoform 9

Gene

EPM2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

  • negative regulation of TOR signaling Source: MGI
  • positive regulation of macroautophagy Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Laforin, isoform 91 Publication
Gene namesi
Name:EPM2A1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:3413. EPM2A.

Subcellular locationi

  • Nucleus 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

MalaCardsiEPM2A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 344344Laforin, isoform 9PRO_0000416051Add
BLAST

Proteomic databases

EPDiB3EWF7.

Interactioni

Subunit structurei

Interacts with isoform 1 and isoform 2.1 Publication

Protein-protein interaction databases

IntActiB3EWF7. 2 interactions.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi58 – 13376Gly-richSequence analysisAdd
BLAST
Compositional biasi63 – 219157Arg-richSequence analysisAdd
BLAST

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket

Isoform 91 Publication (identifier: B3EWF7-1) [UniParc]FASTAAdd to basket
Also known as: POCRCurated

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
MHPKEGAEQH VFSPVPGAPT PPPNRCGRLV LGPRLPAAGT PGPGIRAAAA
60 70 80 90 100
RHALPLWGGG ATRRGRRPAG AAGGGVAARA GALGAARCRP PEAGRHRGGR
110 120 130 140 150
RGPGPAGAGP VARGGGAGGR GGGAGRGGAG PRGHVLVQVP EAGAGRRALL
160 170 180 190 200
GRYCQQTPAP GAERELRPAP PTGASASGRP RRPRRRASRA FCPRPCALPG
210 220 230 240 250
RPGLTLLCRP RCRRQPRLRL PTDSLDPYSA PGRLPAHSVA CPSDLVSAHP
260 270 280 290 300
VLSFFPTAPA SRASALRLPP GAPFALRVPL DLRVPPFAGP LAARPRAADG
310 320 330 340
FNSPTPPWLG FVSSFSCSNS LKKTQNDPTN ETSVFANPRQ QCAT
Note: Produced by alternative initiation. Arises due to the use of an alternative initiation codon in exon 1 out of frame with isoform 1 and results in a completely different isoform.1 Publication
Length:344
Mass (Da):35,169
Last modified:March 21, 2012 - v1
Checksum:iFE403E31ED3EE9DE
GO
Isoform 1Curated (identifier: O95278-1) [UniParc]FASTAAdd to basket
Also known as: ACurated, LDH1Curated, Laf331Curated
The sequence of this isoform can be found in the external entry O95278.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:331
Mass (Da):37,158
GO
Isoform 2Curated (identifier: O95278-2) [UniParc]FASTAAdd to basket
Also known as: BCurated, C-terISOCurated, Laf317Curated
The sequence of this isoform can be found in the external entry O95278.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by alternative splicing.Curated
Length:317
Mass (Da):35,519
GO
Isoform 3Curated (identifier: O95278-3) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry O95278.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by alternative splicing. No experimental confirmation available.Curated
Length:
Mass (Da):
GO
Isoform 41 Publication (identifier: O95278-4) [UniParc]FASTAAdd to basket
Also known as: Laf152Curated
The sequence of this isoform can be found in the external entry O95278.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by alternative splicing.1 Publication
Length:152
Mass (Da):15,804
GO
Isoform 51 Publication (identifier: O95278-5) [UniParc]FASTAAdd to basket
Also known as: Laf224Curated
The sequence of this isoform can be found in the external entry O95278.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by alternative splicing.1 Publication
Length:224
Mass (Da):24,134
GO
Isoform 61 Publication (identifier: O95278-6) [UniParc]FASTAAdd to basket
Also known as: Laf88Curated
The sequence of this isoform can be found in the external entry O95278.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by alternative initiation at Met-244 of isoform 1. Transcript amplified but protein not detected.1 Publication
Length:88
Mass (Da):9,933
GO
Isoform 71 Publication (identifier: O95278-7) [UniParc]FASTAAdd to basket
Also known as: Laf177Curated
The sequence of this isoform can be found in the external entry O95278.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by alternative splicing. Active phosphatase.1 Publication
Length:177
Mass (Da):20,256
GO
Isoform 8Curated (identifier: O95278-8) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry O95278.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by alternative splicing. No experimental confirmation available.Curated
Length:193
Mass (Da):22,160
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL023806 Genomic DNA. No translation available.
UniGeneiHs.486696.

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL023806 Genomic DNA. No translation available.
UniGeneiHs.486696.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiB3EWF7. 2 interactions.

Proteomic databases

EPDiB3EWF7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

GeneCardsiEPM2A.
GeneReviewsiEPM2A.
HGNCiHGNC:3413. EPM2A.
MalaCardsiEPM2A.
neXtProtiNX_B3EWF7.
GenAtlasiSearch...

Miscellaneous databases

ChiTaRSiEPM2A. human.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiEP2A2_HUMAN
AccessioniPrimary (citable) accession number: B3EWF7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2012
Last sequence update: March 21, 2012
Last modified: March 16, 2016
This is version 18 of the entry and version 1 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 6
    Human chromosome 6: entries, gene names and cross-references to MIM

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.