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Protein

EPM2A-interacting protein 1

Gene

EPM2AIP1

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

Functioni

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
EPM2A-interacting protein 1
Alternative name(s):
Laforin-interacting protein
Gene namesi
Name:EPM2AIP1
Synonyms:KIAA0766
ORF Names:My007
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000178567.7
HGNCiHGNC:19735 EPM2AIP1
MIMi607911 gene
neXtProtiNX_Q7L775

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

DisGeNETi9852
OpenTargetsiENSG00000178567
PharmGKBiPA134917440

Polymorphism and mutation databases

BioMutaiEPM2AIP1
DMDMi51315907

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000869921 – 607EPM2A-interacting protein 1Add BLAST607

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei146PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7L775
MaxQBiQ7L775
PaxDbiQ7L775
PeptideAtlasiQ7L775
PRIDEiQ7L775
ProteomicsDBi68825

PTM databases

iPTMnetiQ7L775
PhosphoSitePlusiQ7L775

Expressioni

Tissue specificityi

Expressed in heart, brain, placenta, liver, pancreas, kidney and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000178567 Expressed in 243 organ(s), highest expression level in forebrain
CleanExiHS_EPM2AIP1
ExpressionAtlasiQ7L775 baseline and differential
GenevisibleiQ7L775 HS

Interactioni

Subunit structurei

Interacts with EPM2A.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115186, 22 interactors
IntActiQ7L775, 42 interactors
STRINGi9606.ENSP00000406027

Structurei

3D structure databases

ProteinModelPortaliQ7L775
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IVSA Eukaryota
ENOG411141K LUCA
GeneTreeiENSGT00860000133692
HOGENOMiHOG000112383
HOVERGENiHBG051494
InParanoidiQ7L775
OMAiRMIGENS
OrthoDBiEOG091G0EGH
PhylomeDBiQ7L775
TreeFamiTF328297

Family and domain databases

InterProiView protein in InterPro
IPR026630 EPM2A-int_1
PANTHERiPTHR11697:SF49 PTHR11697:SF49, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q7L775-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWMTPKRSKM EVDEALVFRP EWTQRYLVVE PPEGDGALCL VCRRLIVATR
60 70 80 90 100
ERDVRRHYEA EHEYYERYVA DGERAALVER LRQGDLPVAS FTPEERAARA
110 120 130 140 150
GLGLCRLLAL KGRGWGEGDF VYQCMEVLLR EVLPEHVSVL QGVDLSPDIT
160 170 180 190 200
RQRILSIDRN LRNQLFNRAR DFKAYSLALD DQAFVAYENY LLVFIRGVGP
210 220 230 240 250
ELEVQEDLLT IINLTHHFSV GALMSAILES LQTAGLSLQR MVGLTTTHTL
260 270 280 290 300
RMIGENSGLV SYMREKAVSP NCWNVIHYSG FLHLELLSSY DVDVNQIINT
310 320 330 340 350
ISEWIVLIKT RGVRRPEFQT LLTESESEHG ERVNGRCLNN WLRRGKTLKL
360 370 380 390 400
IFSLRKEMEA FLVSVGATTV HFSDKQWLCD FGFLVDIMEH LRELSEELRV
410 420 430 440 450
SKVFAAAAFD HICTFEVKLN LFQRHIEEKN LTDFPALREV VDELKQQNKE
460 470 480 490 500
DEKIFDPDRY QMVICRLQKE FERHFKDLRF IKKDLELFSN PFNFKPEYAP
510 520 530 540 550
ISVRVELTKL QANTNLWNEY RIKDLGQFYA GLSAESYPII KGVACKVASL
560 570 580 590 600
FDSNQICEKA FSYLTRNQHT LSQPLTDEHL QALFRVATTE MEPGWDDLVR

ERNESNP
Length:607
Mass (Da):70,370
Last modified:July 5, 2004 - v1
Checksum:i417936544D570CAE
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A096LNL1A0A096LNL1_HUMAN
EPM2A-interacting protein 1
EPM2AIP1
139Annotation score:
A0A096LPB0A0A096LPB0_HUMAN
EPM2A-interacting protein 1
EPM2AIP1
42Annotation score:

Sequence cautioni

The sequence AAG43120 differs from that shown. Reason: Frameshift at positions 350, 409 and 434.Curated
The sequence AAG43120 differs from that shown. Reason: Erroneous termination at position 2. Translated as Trp.Curated
The sequence BAA34486 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti411 – 413HIC → QIW in AAG43120 (Ref. 2) Curated3
Sequence conflicti424R → S in AAG43120 (Ref. 2) Curated1
Sequence conflicti430N → I in AAG43120 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050969333V → F. Corresponds to variant dbSNP:rs4647202Ensembl.1
Natural variantiVAR_050970360A → S. Corresponds to variant dbSNP:rs4647201Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY178832 mRNA Translation: AAO21376.1
AF059751 mRNA Translation: AAG43120.1 Sequence problems.
AB018309 mRNA Translation: BAA34486.2 Different initiation.
BC064696 mRNA Translation: AAH64696.1
CCDSiCCDS46790.1
RefSeqiNP_055620.1, NM_014805.3
UniGeneiHs.28020

Genome annotation databases

EnsembliENST00000322716; ENSP00000406027; ENSG00000178567
GeneIDi9852
KEGGihsa:9852
UCSCiuc003cgk.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY178832 mRNA Translation: AAO21376.1
AF059751 mRNA Translation: AAG43120.1 Sequence problems.
AB018309 mRNA Translation: BAA34486.2 Different initiation.
BC064696 mRNA Translation: AAH64696.1
CCDSiCCDS46790.1
RefSeqiNP_055620.1, NM_014805.3
UniGeneiHs.28020

3D structure databases

ProteinModelPortaliQ7L775
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115186, 22 interactors
IntActiQ7L775, 42 interactors
STRINGi9606.ENSP00000406027

PTM databases

iPTMnetiQ7L775
PhosphoSitePlusiQ7L775

Polymorphism and mutation databases

BioMutaiEPM2AIP1
DMDMi51315907

Proteomic databases

EPDiQ7L775
MaxQBiQ7L775
PaxDbiQ7L775
PeptideAtlasiQ7L775
PRIDEiQ7L775
ProteomicsDBi68825

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322716; ENSP00000406027; ENSG00000178567
GeneIDi9852
KEGGihsa:9852
UCSCiuc003cgk.4 human

Organism-specific databases

CTDi9852
DisGeNETi9852
EuPathDBiHostDB:ENSG00000178567.7
GeneCardsiEPM2AIP1
HGNCiHGNC:19735 EPM2AIP1
MIMi607911 gene
neXtProtiNX_Q7L775
OpenTargetsiENSG00000178567
PharmGKBiPA134917440
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVSA Eukaryota
ENOG411141K LUCA
GeneTreeiENSGT00860000133692
HOGENOMiHOG000112383
HOVERGENiHBG051494
InParanoidiQ7L775
OMAiRMIGENS
OrthoDBiEOG091G0EGH
PhylomeDBiQ7L775
TreeFamiTF328297

Miscellaneous databases

GenomeRNAii9852
PROiPR:Q7L775
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178567 Expressed in 243 organ(s), highest expression level in forebrain
CleanExiHS_EPM2AIP1
ExpressionAtlasiQ7L775 baseline and differential
GenevisibleiQ7L775 HS

Family and domain databases

InterProiView protein in InterPro
IPR026630 EPM2A-int_1
PANTHERiPTHR11697:SF49 PTHR11697:SF49, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEPMIP_HUMAN
AccessioniPrimary (citable) accession number: Q7L775
Secondary accession number(s): O94866, Q9H3L3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 104 of the entry and version 1 of the sequence. See 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 3
    Human chromosome 3: 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
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Main funding by: National Institutes of Health

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