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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...

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)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi6 – 94CCCC → SSSS: Induces localization to the cytosol. 2 Publications

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

PharmGKBiPA162384422.

Polymorphism and mutation databases

BioMutaiEFR3A.
DMDMi122065174.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 821821Protein EFR3 homolog APRO_0000050724Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei213 – 2131PhosphoserineBy similarity
Modified residuei219 – 2191PhosphoserineBy similarity
Modified residuei360 – 3601PhosphoserineBy similarity
Modified residuei363 – 3631PhosphoserineBy similarity
Modified residuei422 – 4221PhosphoserineCombined sources
Modified residuei694 – 6941PhosphoserineCombined sources

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.
PRIDEiQ14156.

PTM databases

iPTMnetiQ14156.
PhosphoSiteiQ14156.
SwissPalmiQ14156.

Expressioni

Gene expression databases

BgeeiQ14156.
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 interactions.
IntActiQ14156. 8 interactions.
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.
OrthoDBiEOG76T9RC.
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 AAH71611.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAI08668.1 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAI08668.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA09764.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti486 – 4861L → P in CAH56143 (PubMed:17974005).Curated
Sequence conflicti696 – 6961R → G in CAH56143 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141P → R.1 Publication
VAR_075101
Natural varianti50 – 501K → E.1 Publication
VAR_075102
Natural varianti55 – 551G → C.1 Publication
VAR_075103
Natural varianti70 – 701R → C.1 Publication
VAR_075104
Natural varianti100 – 1001F → L.1 Publication
VAR_075105
Natural varianti118 – 1181L → P.1 Publication
VAR_075106
Natural varianti123 – 1231F → L.1 Publication
VAR_075107
Natural varianti194 – 1941M → V.1 Publication
VAR_075108
Natural varianti243 – 2431G → A.1 Publication
VAR_075109
Natural varianti268 – 2681D → G.1 Publication
VAR_075110
Natural varianti320 – 3201E → D.1 Publication
VAR_075111
Natural varianti321 – 3211A → S.1 Publication
VAR_075112
Natural varianti337 – 3371V → L.1 Publication
VAR_075113
Natural varianti338 – 3381F → S.1 Publication
VAR_075114
Natural varianti354 – 3541N → D.1 Publication
VAR_075115
Natural varianti358 – 3581G → R.
Corresponds to variant rs2270877 [ dbSNP | Ensembl ].
VAR_047247
Natural varianti365 – 3651N → D.2 Publications
Corresponds to variant rs1051221 [ dbSNP | Ensembl ].
VAR_047248
Natural varianti451 – 4511T → M.1 Publication
VAR_075116
Natural varianti504 – 5041D → G.1 Publication
VAR_075117
Natural varianti508 – 5081L → P.1 Publication
VAR_075118
Natural varianti510 – 5101I → V.1 Publication
VAR_075119
Natural varianti528 – 5281Q → R.1 Publication
VAR_075120
Natural varianti532 – 5321R → W.1 Publication
VAR_075121
Natural varianti534 – 5341I → T.1 Publication
VAR_075122
Natural varianti570 – 5701D → V.1 Publication
VAR_075123
Natural varianti646 – 6461M → V.1 Publication
VAR_075124
Natural varianti785 – 7851T → A.1 Publication
VAR_075125

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3636Missing in isoform 2. 1 PublicationVSP_022217Add
BLAST
Alternative sequencei619 – 66244Missing in isoform 3. 1 PublicationVSP_022218Add
BLAST

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]
RefSeqiNP_055952.2. NM_015137.4. [Q14156-1]
XP_005250906.1. XM_005250849.1. [Q14156-2]
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]
RefSeqiNP_055952.2. NM_015137.4. [Q14156-1]
XP_005250906.1. XM_005250849.1. [Q14156-2]
UniGeneiHs.204564.

3D structure databases

ProteinModelPortaliQ14156.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ14156.
PhosphoSiteiQ14156.
SwissPalmiQ14156.

Polymorphism and mutation databases

BioMutaiEFR3A.
DMDMi122065174.

Proteomic databases

EPDiQ14156.
MaxQBiQ14156.
PaxDbiQ14156.
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.
GeneCardsiEFR3A.
HGNCiHGNC:28970. EFR3A.
HPAiHPA022859.
HPA023092.
HPA023402.
MIMi611798. gene.
neXtProtiNX_Q14156.
PharmGKBiPA162384422.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1877. Eukaryota.
ENOG410YJSK. LUCA.
GeneTreeiENSGT00390000002143.
HOGENOMiHOG000007148.
HOVERGENiHBG060233.
InParanoidiQ14156.
OMAiCCCAALR.
OrthoDBiEOG76T9RC.
PhylomeDBiQ14156.
TreeFamiTF314098.

Miscellaneous databases

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

Gene expression databases

BgeeiQ14156.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1."
    Nagase T., Seki N., Tanaka A., Ishikawa K., Nomura N.
    DNA Res. 2:167-174(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Bone marrow.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 469-821 (ISOFORM 3), VARIANT ASP-365.
    Tissue: Rectum tumor and Retina.
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORM 1), VARIANT ASP-365.
    Tissue: Skin and Testis.
  5. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-694, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "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-422, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-694, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-694, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "PtdIns4P synthesis by PI4KIIIalpha at the plasma membrane and its impact on plasma membrane identity."
    Nakatsu F., Baskin J.M., Chung J., Tanner L.B., Shui G., Lee S.Y., Pirruccello M., Hao M., Ingolia N.T., Wenk M.R., De Camilli P.
    J. Cell Biol. 199:1003-1016(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, PALMITOYLATION, MUTAGENESIS OF 6-CYS--CYS-9.
  10. Cited for: POSSIBLE INVOLVEMENT IN AUTISM, VARIANTS ARG-14; GLU-50; CYS-55; CYS-70; LEU-100; PRO-118; LEU-123; VAL-194; ALA-243; GLY-268; ASP-320; SER-321; LEU-337; SER-338; ASP-354; MET-451; GLY-504; PRO-508; VAL-510; ARG-528; TRP-532; THR-534; VAL-570; VAL-646 AND ALA-785.
  11. "Plasticity of PI4KIIIalpha interactions at the plasma membrane."
    Chung J., Nakatsu F., Baskin J.M., De Camilli P.
    EMBO Rep. 16:312-320(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. "EFR3s are palmitoylated plasma membrane proteins that control responsiveness to G-protein-coupled receptors."
    Bojjireddy N., Guzman-Hernandez M.L., Reinhard N.R., Jovic M., Balla T.
    J. Cell Sci. 128:118-128(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, PALMITOYLATION, MUTAGENESIS OF 6-CYS--CYS-9.
  13. Cited for: FUNCTION, IDENTIFICATION IN THE PI4K COMPLEX.

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: June 8, 2016
This is version 121 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.