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Protein

Protein EFR3 homolog A

Gene

EFR3A

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

Functioni

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns4P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825).Curated3 Publications

GO - Biological processi

  • establishment of protein localization to plasma membrane Source: UniProtKB
  • phosphatidylinositol phosphorylation Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132294-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein EFR3 homolog ACurated
Alternative name(s):
Protein EFR3-like
Gene namesi
Name:EFR3AImported
Synonyms:KIAA01431 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:28970. EFR3A.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Genetic variations in EFR3A may be associated with susceptibility to autism.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi6 – 9CCCC → SSSS: Induces localization to the cytosol. 2 Publications4

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

DisGeNETi23167.
OpenTargetsiENSG00000132294.
PharmGKBiPA162384422.

Polymorphism and mutation databases

BioMutaiEFR3A.
DMDMi122065174.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000507241 – 821Protein EFR3 homolog AAdd BLAST821

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei360PhosphoserineBy similarity1
Modified residuei363PhosphoserineBy similarity1
Modified residuei422PhosphoserineCombined sources1
Modified residuei694PhosphoserineCombined sources1

Post-translational modificationi

Palmitoylated at its N-terminus, anchoring the protein to the plasma membrane.2 Publications

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiQ14156.
MaxQBiQ14156.
PaxDbiQ14156.
PeptideAtlasiQ14156.
PRIDEiQ14156.

PTM databases

iPTMnetiQ14156.
PhosphoSitePlusiQ14156.
SwissPalmiQ14156.

Expressioni

Gene expression databases

BgeeiENSG00000132294.
CleanExiHS_EFR3A.
ExpressionAtlasiQ14156. baseline and differential.
GenevisibleiQ14156. HS.

Organism-specific databases

HPAiHPA022859.
HPA023092.
HPA023402.

Interactioni

Subunit structurei

Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:26571211).1 Publication

Protein-protein interaction databases

BioGridi116779. 26 interactors.
IntActiQ14156. 8 interactors.
MINTiMINT-5006088.
STRINGi9606.ENSP00000254624.

Structurei

3D structure databases

ProteinModelPortaliQ14156.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the EFR3 family.Curated

Phylogenomic databases

eggNOGiKOG1877. Eukaryota.
ENOG410YJSK. LUCA.
GeneTreeiENSGT00390000002143.
HOGENOMiHOG000007148.
HOVERGENiHBG060233.
InParanoidiQ14156.
OMAiCCCAALR.
OrthoDBiEOG091G01LS.
PhylomeDBiQ14156.
TreeFamiTF314098.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14156-1) [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
MPTRVCCCCS ALRPRYKRLV DNIFPEDPKD GLVKTDMEKL TFYAVSAPEK
60 70 80 90 100
LDRIGSYLAE RLSRDVVRHR SGYVLIAMEA LDQLLMACHS QSIKPFVESF
110 120 130 140 150
LHMVAKLLES GEPKLQVLGT NSFVKFANIE EDTPSYHRRY DFFVSRFSAM
160 170 180 190 200
CHSCHSDPEI RTEIRIAGIR GIQGVVRKTV NDELRATIWE PQHMDKIVPS
210 220 230 240 250
LLFNMQKIEE VDSRIGPPSS PSATDKEENP AVLAENCFRE LLGRATFGNM
260 270 280 290 300
NNAVRPVFAH LDHHKLWDPN EFAVHCFKII MYSIQAQYSH HVIQEILGHL
310 320 330 340 350
DARKKDAPRV RAGIIQVLLE AVAIAAKGSI GPTVLEVFNT LLKHLRLSVE
360 370 380 390 400
FEANDLQGGS VGSVNLNTSS KDNDEKIVQN AIIQTIGFFG SNLPDYQRSE
410 420 430 440 450
IMMFIMGKVP VFGTSTHTLD ISQLGDLGTR RIQIMLLRSL LMVTSGYKAK
460 470 480 490 500
TIVTALPGSF LDPLLSPSLM EDYELRQLVL EVMHNLMDRH DNRAKLRGIR
510 520 530 540 550
IIPDVADLKI KREKICRQDT SFMKKNGQQL YRHIYLGCKE EDNVQKNYEL
560 570 580 590 600
LYTSLALITI ELANEEVVID LIRLAIALQD SAIINEDNLP MFHRCGIMAL
610 620 630 640 650
VAAYLNFVSQ MIAVPAFCQH VSKVIEIRTM EAPYFLPEHI FRDKCMLPKS
660 670 680 690 700
LEKHEKDLYF LTNKIAESLG GSGYSVERLS VPYVPQVTDE DRLSRRKSIV
710 720 730 740 750
DTVSIQVDIL SNNVPSDDVV SNTEEITFEA LKKAIDTSGM EEQEKEKRRL
760 770 780 790 800
VIEKFQKAPF EEIAAQCESK ANLLHDRLAQ ILELTIRPPP SPSGTLTITS
810 820
GHAQYQSVPV YEMKFPDLCV Y
Length:821
Mass (Da):92,924
Last modified:January 9, 2007 - v2
Checksum:iA5FCEF6A189A5145
GO
Isoform 2 (identifier: Q14156-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.

Note: No experimental confirmation available.
Show »
Length:785
Mass (Da):88,801
Checksum:iB568D2B555309363
GO
Isoform 3 (identifier: Q14156-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     619-662: Missing.

Note: No experimental confirmation available.
Show »
Length:777
Mass (Da):87,580
Checksum:iBA03F601660F2195
GO

Sequence cautioni

The sequence AAH71611 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI08668 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAI08668 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA09764 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti486L → P in CAH56143 (PubMed:17974005).Curated1
Sequence conflicti696R → G in CAH56143 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07510114P → R.1 Publication1
Natural variantiVAR_07510250K → E.1 Publication1
Natural variantiVAR_07510355G → C.1 PublicationCorresponds to variant rs749463078dbSNPEnsembl.1
Natural variantiVAR_07510470R → C.1 Publication1
Natural variantiVAR_075105100F → L.1 Publication1
Natural variantiVAR_075106118L → P.1 Publication1
Natural variantiVAR_075107123F → L.1 Publication1
Natural variantiVAR_075108194M → V.1 PublicationCorresponds to variant rs780864616dbSNPEnsembl.1
Natural variantiVAR_075109243G → A.1 Publication1
Natural variantiVAR_075110268D → G.1 Publication1
Natural variantiVAR_075111320E → D.1 Publication1
Natural variantiVAR_075112321A → S.1 PublicationCorresponds to variant rs774959333dbSNPEnsembl.1
Natural variantiVAR_075113337V → L.1 Publication1
Natural variantiVAR_075114338F → S.1 Publication1
Natural variantiVAR_075115354N → D.1 PublicationCorresponds to variant rs754610866dbSNPEnsembl.1
Natural variantiVAR_047247358G → R.Corresponds to variant rs2270877dbSNPEnsembl.1
Natural variantiVAR_047248365N → D.2 PublicationsCorresponds to variant rs1051221dbSNPEnsembl.1
Natural variantiVAR_075116451T → M.1 PublicationCorresponds to variant rs770980074dbSNPEnsembl.1
Natural variantiVAR_075117504D → G.1 Publication1
Natural variantiVAR_075118508L → P.1 Publication1
Natural variantiVAR_075119510I → V.1 Publication1
Natural variantiVAR_075120528Q → R.1 Publication1
Natural variantiVAR_075121532R → W.1 PublicationCorresponds to variant rs779475356dbSNPEnsembl.1
Natural variantiVAR_075122534I → T.1 PublicationCorresponds to variant rs374094815dbSNPEnsembl.1
Natural variantiVAR_075123570D → V.1 Publication1
Natural variantiVAR_075124646M → V.1 PublicationCorresponds to variant rs759848268dbSNPEnsembl.1
Natural variantiVAR_075125785T → A.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0222171 – 36Missing in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_022218619 – 662Missing in isoform 3. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D63477 mRNA. Translation: BAA09764.1. Different initiation.
BX648595 mRNA. Translation: CAH56143.1.
CR749243 mRNA. Translation: CAH18099.1.
AC092817 Genomic DNA. No translation available.
BC071611 mRNA. Translation: AAH71611.1. Different initiation.
BC108667 mRNA. Translation: AAI08668.1. Sequence problems.
BC152442 mRNA. Translation: AAI52443.1.
CCDSiCCDS34942.2. [Q14156-1]
CCDS83328.1. [Q14156-2]
RefSeqiNP_001310482.1. NM_001323553.1. [Q14156-2]
NP_001310483.1. NM_001323554.1. [Q14156-2]
NP_001310484.1. NM_001323555.1. [Q14156-2]
NP_001310485.1. NM_001323556.1. [Q14156-2]
NP_001310486.1. NM_001323557.1. [Q14156-2]
NP_001310487.1. NM_001323558.1.
NP_055952.2. NM_015137.5. [Q14156-1]
UniGeneiHs.204564.

Genome annotation databases

EnsembliENST00000254624; ENSP00000254624; ENSG00000132294. [Q14156-1]
ENST00000519656; ENSP00000428086; ENSG00000132294. [Q14156-2]
GeneIDi23167.
KEGGihsa:23167.
UCSCiuc003yte.4. human. [Q14156-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D63477 mRNA. Translation: BAA09764.1. Different initiation.
BX648595 mRNA. Translation: CAH56143.1.
CR749243 mRNA. Translation: CAH18099.1.
AC092817 Genomic DNA. No translation available.
BC071611 mRNA. Translation: AAH71611.1. Different initiation.
BC108667 mRNA. Translation: AAI08668.1. Sequence problems.
BC152442 mRNA. Translation: AAI52443.1.
CCDSiCCDS34942.2. [Q14156-1]
CCDS83328.1. [Q14156-2]
RefSeqiNP_001310482.1. NM_001323553.1. [Q14156-2]
NP_001310483.1. NM_001323554.1. [Q14156-2]
NP_001310484.1. NM_001323555.1. [Q14156-2]
NP_001310485.1. NM_001323556.1. [Q14156-2]
NP_001310486.1. NM_001323557.1. [Q14156-2]
NP_001310487.1. NM_001323558.1.
NP_055952.2. NM_015137.5. [Q14156-1]
UniGeneiHs.204564.

3D structure databases

ProteinModelPortaliQ14156.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116779. 26 interactors.
IntActiQ14156. 8 interactors.
MINTiMINT-5006088.
STRINGi9606.ENSP00000254624.

PTM databases

iPTMnetiQ14156.
PhosphoSitePlusiQ14156.
SwissPalmiQ14156.

Polymorphism and mutation databases

BioMutaiEFR3A.
DMDMi122065174.

Proteomic databases

EPDiQ14156.
MaxQBiQ14156.
PaxDbiQ14156.
PeptideAtlasiQ14156.
PRIDEiQ14156.

Protocols and materials databases

DNASUi23167.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254624; ENSP00000254624; ENSG00000132294. [Q14156-1]
ENST00000519656; ENSP00000428086; ENSG00000132294. [Q14156-2]
GeneIDi23167.
KEGGihsa:23167.
UCSCiuc003yte.4. human. [Q14156-1]

Organism-specific databases

CTDi23167.
DisGeNETi23167.
GeneCardsiEFR3A.
HGNCiHGNC:28970. EFR3A.
HPAiHPA022859.
HPA023092.
HPA023402.
MIMi611798. gene.
neXtProtiNX_Q14156.
OpenTargetsiENSG00000132294.
PharmGKBiPA162384422.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1877. Eukaryota.
ENOG410YJSK. LUCA.
GeneTreeiENSGT00390000002143.
HOGENOMiHOG000007148.
HOVERGENiHBG060233.
InParanoidiQ14156.
OMAiCCCAALR.
OrthoDBiEOG091G01LS.
PhylomeDBiQ14156.
TreeFamiTF314098.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132294-MONOMER.

Miscellaneous databases

ChiTaRSiEFR3A. human.
GenomeRNAii23167.
PROiQ14156.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132294.
CleanExiHS_EFR3A.
ExpressionAtlasiQ14156. baseline and differential.
GenevisibleiQ14156. HS.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiEFR3A_HUMAN
AccessioniPrimary (citable) accession number: Q14156
Secondary accession number(s): A7MD19
, Q2VPK2, Q63HL7, Q68DX1, Q6IQ18
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 9, 2007
Last modified: November 2, 2016
This is version 125 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.