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Entry version 146 (16 Oct 2019)
Sequence version 2 (09 Jan 2007)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein EFR3 homolog ACurated
Alternative name(s):
Protein EFR3-like
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EFR3AImported
Synonyms:KIAA01431 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:28970 EFR3A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611798 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q14156

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Genetic variations in EFR3A may be associated with susceptibility to autism.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi6 – 9CCCC → SSSS: Induces localization to the cytosol. 2 Publications4

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

Open Targets

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OpenTargetsi
ENSG00000132294

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162384422

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14156

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFR3A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
122065174

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000507241 – 821Protein EFR3 homolog AAdd BLAST821

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei360PhosphoserineBy similarity1
Modified residuei363PhosphoserineBy similarity1
Modified residuei422PhosphoserineCombined sources1
Modified residuei694PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14156

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14156

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14156

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14156

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q14156

PeptideAtlas

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PeptideAtlasi
Q14156

PRoteomics IDEntifications database

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PRIDEi
Q14156

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
59864 [Q14156-1]
59865 [Q14156-2]
59866 [Q14156-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14156

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q14156

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q14156

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000132294 Expressed in 241 organ(s), highest expression level in substantia nigra

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14156 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14156 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA022859
HPA023092
HPA023402

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116779, 38 interactors

Protein interaction database and analysis system

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IntActi
Q14156, 25 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000254624

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the EFR3 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1877 Eukaryota
ENOG410YJSK LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000002143

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007148

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14156

KEGG Orthology (KO)

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KOi
K21842

Database of Orthologous Groups

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OrthoDBi
173880at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14156

TreeFam database of animal gene trees

More...
TreeFami
TF314098

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48371 SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14156-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GUZ7A0A1B0GUZ7_HUMAN
Protein EFR3 homolog A
EFR3A
848Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJS1E5RJS1_HUMAN
Protein EFR3 homolog A
EFR3A
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RFJ2E5RFJ2_HUMAN
Protein EFR3 homolog A
EFR3A
13Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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. Extended N-terminus.Curated
The sequence BAA09764 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti486L → P in CAH56143 (PubMed:17974005).Curated1
Sequence conflicti696R → G in CAH56143 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07510114P → R1 Publication1
Natural variantiVAR_07510250K → E1 Publication1
Natural variantiVAR_07510355G → C1 PublicationCorresponds to variant dbSNP:rs749463078Ensembl.1
Natural variantiVAR_07510470R → C1 PublicationCorresponds to variant dbSNP:rs1212454955Ensembl.1
Natural variantiVAR_075105100F → L1 Publication1
Natural variantiVAR_075106118L → P1 Publication1
Natural variantiVAR_075107123F → L1 PublicationCorresponds to variant dbSNP:rs1323253445Ensembl.1
Natural variantiVAR_075108194M → V1 PublicationCorresponds to variant dbSNP:rs780864616Ensembl.1
Natural variantiVAR_075109243G → A1 Publication1
Natural variantiVAR_075110268D → G1 Publication1
Natural variantiVAR_075111320E → D1 Publication1
Natural variantiVAR_075112321A → S1 PublicationCorresponds to variant dbSNP:rs774959333Ensembl.1
Natural variantiVAR_075113337V → L1 Publication1
Natural variantiVAR_075114338F → S1 Publication1
Natural variantiVAR_075115354N → D1 PublicationCorresponds to variant dbSNP:rs754610866Ensembl.1
Natural variantiVAR_047247358G → R. Corresponds to variant dbSNP:rs2270877Ensembl.1
Natural variantiVAR_047248365N → D2 PublicationsCorresponds to variant dbSNP:rs1051221Ensembl.1
Natural variantiVAR_075116451T → M1 PublicationCorresponds to variant dbSNP:rs770980074Ensembl.1
Natural variantiVAR_075117504D → G1 Publication1
Natural variantiVAR_075118508L → P1 Publication1
Natural variantiVAR_075119510I → V1 Publication1
Natural variantiVAR_075120528Q → R1 Publication1
Natural variantiVAR_075121532R → W1 PublicationCorresponds to variant dbSNP:rs779475356Ensembl.1
Natural variantiVAR_075122534I → T1 PublicationCorresponds to variant dbSNP:rs374094815Ensembl.1
Natural variantiVAR_075123570D → V1 Publication1
Natural variantiVAR_075124646M → V1 PublicationCorresponds to variant dbSNP:rs759848268Ensembl.1
Natural variantiVAR_075125785T → A1 PublicationCorresponds to variant dbSNP:rs1467962026Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34942.2 [Q14156-1]
CCDS83328.1 [Q14156-2]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000254624; ENSP00000254624; ENSG00000132294 [Q14156-1]
ENST00000519656; ENSP00000428086; ENSG00000132294 [Q14156-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23167

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23167

UCSC genome browser

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UCSCi
uc003yte.4 human [Q14156-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi116779, 38 interactors
IntActiQ14156, 25 interactors
STRINGi9606.ENSP00000254624

PTM databases

iPTMnetiQ14156
PhosphoSitePlusiQ14156
SwissPalmiQ14156

Polymorphism and mutation databases

BioMutaiEFR3A
DMDMi122065174

Proteomic databases

EPDiQ14156
jPOSTiQ14156
MassIVEiQ14156
MaxQBiQ14156
PaxDbiQ14156
PeptideAtlasiQ14156
PRIDEiQ14156
ProteomicsDBi59864 [Q14156-1]
59865 [Q14156-2]
59866 [Q14156-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23167

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23167

GeneCards: human genes, protein and diseases

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GeneCardsi
EFR3A
HGNCiHGNC:28970 EFR3A
HPAiHPA022859
HPA023092
HPA023402
MIMi611798 gene
neXtProtiNX_Q14156
OpenTargetsiENSG00000132294
PharmGKBiPA162384422

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1877 Eukaryota
ENOG410YJSK LUCA
GeneTreeiENSGT00390000002143
HOGENOMiHOG000007148
InParanoidiQ14156
KOiK21842
OrthoDBi173880at2759
PhylomeDBiQ14156
TreeFamiTF314098

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EFR3A human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23167
PharosiQ14156

Protein Ontology

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PROi
PR:Q14156

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000132294 Expressed in 241 organ(s), highest expression level in substantia nigra
ExpressionAtlasiQ14156 baseline and differential
GenevisibleiQ14156 HS

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEFR3A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14156
Secondary accession number(s): A7MD19
, Q2VPK2, Q63HL7, Q68DX1, Q6IQ18
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 9, 2007
Last modified: October 16, 2019
This is version 146 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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