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Protein

EPM2A-interacting protein 1

Gene

EPM2AIP1

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

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

HGNCiHGNC:19735. EPM2AIP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134917440.

Polymorphism and mutation databases

BioMutaiEPM2AIP1.
DMDMi51315907.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 607607EPM2A-interacting protein 1PRO_0000086992Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei146 – 1461PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7L775.
MaxQBiQ7L775.
PaxDbiQ7L775.
PRIDEiQ7L775.

PTM databases

iPTMnetiQ7L775.
PhosphoSiteiQ7L775.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ7L775.
CleanExiHS_EPM2AIP1.
ExpressionAtlasiQ7L775. baseline and differential.
GenevisibleiQ7L775. HS.

Interactioni

Subunit structurei

Interacts with EPM2A.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ACTN1P128143EBI-6255981,EBI-351710
C1orf50Q9BV193EBI-6255981,EBI-2874661
CCNB1IP1Q9NPC33EBI-6255981,EBI-745269
CPSF7Q8N6843EBI-6255981,EBI-746909
FHL3Q136433EBI-6255981,EBI-741101
KCTD1Q719H93EBI-6255981,EBI-9027502
MEOX2A4D1273EBI-6255981,EBI-10172134
PRTFDC1Q9NRG13EBI-6255981,EBI-739759
RELQ048643EBI-6255981,EBI-307352
SERPINF1P369553EBI-6255981,EBI-2932733
TNFAIP1Q138293EBI-6255981,EBI-2505861
TRIM54Q9BYV23EBI-6255981,EBI-2130429
VPS52Q8N1B43EBI-6255981,EBI-2799833
ZBTB14O438293EBI-6255981,EBI-10176632

Protein-protein interaction databases

BioGridi115186. 22 interactions.
IntActiQ7L775. 16 interactions.
STRINGi9606.ENSP00000406027.

Structurei

3D structure databases

ProteinModelPortaliQ7L775.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IVSA. Eukaryota.
ENOG411141K. LUCA.
GeneTreeiENSGT00760000119070.
HOGENOMiHOG000112383.
HOVERGENiHBG051494.
InParanoidiQ7L775.
OMAiRMIGENS.
OrthoDBiEOG700892.
PhylomeDBiQ7L775.
TreeFamiTF328297.

Family and domain databases

InterProiIPR026630. EPM2A-int_1.
[Graphical view]
PANTHERiPTHR11697:SF82. PTHR11697:SF82. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Sequence cautioni

The sequence AAG43120.1 differs from that shown. Reason: Frameshift at positions 350, 409 and 434. Curated
The sequence AAG43120.1 differs from that shown. Reason: Erroneous termination at position 2. Translated as Trp.Curated
The sequence BAA34486.2 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti411 – 4133HIC → QIW in AAG43120 (Ref. 2) Curated
Sequence conflicti424 – 4241R → S in AAG43120 (Ref. 2) Curated
Sequence conflicti430 – 4301N → I in AAG43120 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti333 – 3331V → F.
Corresponds to variant rs4647202 [ dbSNP | Ensembl ].
VAR_050969
Natural varianti360 – 3601A → S.
Corresponds to variant rs4647201 [ dbSNP | Ensembl ].
VAR_050970

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

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 interactions.
IntActiQ7L775. 16 interactions.
STRINGi9606.ENSP00000406027.

PTM databases

iPTMnetiQ7L775.
PhosphoSiteiQ7L775.

Polymorphism and mutation databases

BioMutaiEPM2AIP1.
DMDMi51315907.

Proteomic databases

EPDiQ7L775.
MaxQBiQ7L775.
PaxDbiQ7L775.
PRIDEiQ7L775.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9852.
GeneCardsiEPM2AIP1.
HGNCiHGNC:19735. EPM2AIP1.
MIMi607911. gene.
neXtProtiNX_Q7L775.
PharmGKBiPA134917440.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVSA. Eukaryota.
ENOG411141K. LUCA.
GeneTreeiENSGT00760000119070.
HOGENOMiHOG000112383.
HOVERGENiHBG051494.
InParanoidiQ7L775.
OMAiRMIGENS.
OrthoDBiEOG700892.
PhylomeDBiQ7L775.
TreeFamiTF328297.

Miscellaneous databases

GenomeRNAii9852.
PROiQ7L775.
SOURCEiSearch...

Gene expression databases

BgeeiQ7L775.
CleanExiHS_EPM2AIP1.
ExpressionAtlasiQ7L775. baseline and differential.
GenevisibleiQ7L775. HS.

Family and domain databases

InterProiIPR026630. EPM2A-int_1.
[Graphical view]
PANTHERiPTHR11697:SF82. PTHR11697:SF82. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product."
    Ianzano L., Zhao X.C., Minassian B.A., Scherer S.W.
    Genomics 81:579-587(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH EPM2A.
  2. Mao Y.M., Xie Y., Zhou Z.X., Ying K., Zheng Z.H.
    Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Fetal brain.
  3. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  4. "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].
    Tissue: Placenta.
  5. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-146, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiEPMIP_HUMAN
AccessioniPrimary (citable) accession number: Q7L775
Secondary accession number(s): O94866, Q9H3L3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 5, 2004
Last modified: June 8, 2016
This is version 90 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 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

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.