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UniProtKB - O95163 (ELP1_HUMAN)

Protein

Elongator complex protein 1

Gene

ELP1

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

May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK).
Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration. Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).By similarity2 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 - Molecular functioni

  • phosphorylase kinase regulator activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3214847 HATs acetylate histones

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O95163

SIGNOR Signaling Network Open Resource

More...SIGNORi		O95163

<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:
Elongator complex protein 1
Short name:
ELP1
Alternative name(s):
IkappaB kinase complex-associated protein
Short name:
IKK complex-associated protein
p150
<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:ELP1Imported
Synonyms:IKAP, IKBKAP
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000070061.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:5959 ELP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603722 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95163

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<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

Neuropathy, hereditary sensory and autonomic, 3 (HSAN3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction.
See also OMIM:223900
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_011327696R → P in HSAN3; mild phenotype; phosphorylation is reduced. 2 PublicationsCorresponds to variant dbSNP:rs137853022EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...DisGeNETi		8518

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ELP1

MalaCards human disease database

More...MalaCardsi		ELP1
MIMi223900 phenotype

Open Targets

More...OpenTargetsi		ENSG00000070061

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1764 Familial dysautonomia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29775

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ELP1

<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_00000841771 – 1332Elongator complex protein 1Add BLAST1332

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 residuei471PhosphoserineCombined sources1
Modified residuei804PhosphoserineCombined sources1
Modified residuei867PhosphoserineCombined sources1
Modified residuei1171PhosphoserineCombined sources1
Modified residuei1174PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O95163

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O95163

MaxQB - The MaxQuant DataBase

More...MaxQBi		O95163

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

More...PaxDbi		O95163

PeptideAtlas

More...PeptideAtlasi		O95163

PRoteomics IDEntifications database

More...PRIDEi		O95163

ProteomicsDB human proteome resource

More...ProteomicsDBi		50677

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95163

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

More...PhosphoSitePlusi		O95163

<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

More...Bgeei		ENSG00000070061 Expressed in 229 organ(s), highest expression level in metanephros

CleanEx database of gene expression profiles

More...CleanExi		HS_IKBKAP

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95163 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95163 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB021340
HPA049677
HPA050686

<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

Interacts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta. Component of the RNA polymerase II elongator complex (Elongator), which consists of ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with ELP3.3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		114090, 81 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1949 Elongator holoenzyme complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O95163

Database of interacting proteins

More...DIPi		DIP-27579N

Protein interaction database and analysis system

More...IntActi		O95163, 43 interactors

Molecular INTeraction database

More...MINTi		O95163

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000363779

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11332
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CQRX-ray3.02A715-1332[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O95163

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O95163

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 ELP1/IKA1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1920 Eukaryota
COG5290 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013344

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG019038

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95163

KEGG Orthology (KO)

More...KOi		K11373

Identification of Orthologs from Complete Genome Data

More...OMAi		KVRVWNR

Database of Orthologous Groups

More...OrthoDBi		180136at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95163

TreeFam database of animal gene trees

More...TreeFami		TF300402

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006849 Elp1
IPR015943 WD40/YVTN_repeat-like_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR12747 PTHR12747, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04762 IKI3, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF017233 IKAP, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

O95163-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRNLKLFRTL EFRDIQGPGN PQCFSLRTEQ GTVLIGSEHG LIEVDPVSRE 
        60         70         80         90        100
VKNEVSLVAE GFLPEDGSGR IVGVQDLLDQ ESVCVATASG DVILCSLSTQ 
       110        120        130        140        150
QLECVGSVAS GISVMSWSPD QELVLLATGQ QTLIMMTKDF EPILEQQIHQ 
       160        170        180        190        200
DDFGESKFIT VGWGRKETQF HGSEGRQAAF QMQMHESALP WDDHRPQVTW 
       210        220        230        240        250
RGDGQFFAVS VVCPETGARK VRVWNREFAL QSTSEPVAGL GPALAWKPSG 
       260        270        280        290        300
SLIASTQDKP NQQDIVFFEK NGLLHGHFTL PFLKDEVKVN DLLWNADSSV 
       310        320        330        340        350
LAVWLEDLQR EESSIPKTCV QLWTVGNYHW YLKQSLSFST CGKSKIVSLM 
       360        370        380        390        400
WDPVTPYRLH VLCQGWHYLA YDWHWTTDRS VGDNSSDLSN VAVIDGNRVL 
       410        420        430        440        450
VTVFRQTVVP PPMCTYQLLF PHPVNQVTFL AHPQKSNDLA VLDASNQISV 
       460        470        480        490        500
YKCGDCPSAD PTVKLGAVGG SGFKVCLRTP HLEKRYKIQF ENNEDQDVNP 
       510        520        530        540        550
LKLGLLTWIE EDVFLAVSHS EFSPRSVIHH LTAASSEMDE EHGQLNVSSS 
       560        570        580        590        600
AAVDGVIISL CCNSKTKSVV LQLADGQIFK YLWESPSLAI KPWKNSGGFP 
       610        620        630        640        650
VRFPYPCTQT ELAMIGEEEC VLGLTDRCRF FINDIEVASN ITSFAVYDEF 
       660        670        680        690        700
LLLTTHSHTC QCFCLRDASF KTLQAGLSSN HVSHGEVLRK VERGSRIVTV 
       710        720        730        740        750
VPQDTKLVLQ MPRGNLEVVH HRALVLAQIR KWLDKLMFKE AFECMRKLRI 
       760        770        780        790        800
NLNLIYDHNP KVFLGNVETF IKQIDSVNHI NLFFTELKEE DVTKTMYPAP 
       810        820        830        840        850
VTSSVYLSRD PDGNKIDLVC DAMRAVMESI NPHKYCLSIL TSHVKKTTPE 
       860        870        880        890        900
LEIVLQKVHE LQGNAPSDPD AVSAEEALKY LLHLVDVNEL YDHSLGTYDF 
       910        920        930        940        950
DLVLMVAEKS QKDPKEYLPF LNTLKKMETN YQRFTIDKYL KRYEKAIGHL 
       960        970        980        990       1000
SKCGPEYFPE CLNLIKDKNL YNEALKLYSP SSQQYQDISI AYGEHLMQEH 
      1010       1020       1030       1040       1050
MYEPAGLMFA RCGAHEKALS AFLTCGNWKQ ALCVAAQLNF TKDQLVGLGR 
      1060       1070       1080       1090       1100
TLAGKLVEQR KHIDAAMVLE ECAQDYEEAV LLLLEGAAWE EALRLVYKYN 
      1110       1120       1130       1140       1150
RLDIIETNVK PSILEAQKNY MAFLDSQTAT FSRHKKRLLV VRELKEQAQQ 
      1160       1170       1180       1190       1200
AGLDDEVPHG QESDLFSETS SVVSGSEMSG KYSHSNSRIS ARSSKNRRKA 
      1210       1220       1230       1240       1250
ERKKHSLKEG SPLEDLALLE ALSEVVQNTE NLKDEVYHIL KVLFLFEFDE 
      1260       1270       1280       1290       1300
QGRELQKAFE DTLQLMERSL PEIWTLTYQQ NSATPVLGPN STANSIMASY 
      1310       1320       1330 
QQQKTSVPVL DAELFIPPKI NRRTQWKLSL LD
Length:1,332
Mass (Da):150,254
Last modified:November 25, 2008 - v3
<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:i5BAC580433CC8641
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H2T0F5H2T0_HUMAN
Elongator complex protein 1
ELP1
983Annotation 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>
H0YDF3H0YDF3_HUMAN
Elongator complex protein 1
ELP1
346Annotation 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 CAB43219 differs from that shown. Reason: Frameshift at position 1286.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 conflicti304W → R in AAC64258 (PubMed:9751059).Curated1
Sequence conflicti754L → P in AAC64258 (PubMed:9751059).Curated1
Sequence conflicti961C → G in CAB43219 (PubMed:17974005).Curated1
Sequence conflicti1320I → V in CAB43219 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04747670R → C. Corresponds to variant dbSNP:rs3737311EnsemblClinVar.1
Natural variantiVAR_047477182M → K. Corresponds to variant dbSNP:rs10521092EnsemblClinVar.1
Natural variantiVAR_047478312E → K1 PublicationCorresponds to variant dbSNP:rs1140064EnsemblClinVar.1
Natural variantiVAR_047479525R → Q. Corresponds to variant dbSNP:rs838827EnsemblClinVar.1
Natural variantiVAR_011327696R → P in HSAN3; mild phenotype; phosphorylation is reduced. 2 PublicationsCorresponds to variant dbSNP:rs137853022EnsemblClinVar.1
Natural variantiVAR_047480765G → E. Corresponds to variant dbSNP:rs2230792EnsemblClinVar.1
Natural variantiVAR_047481816I → L. Corresponds to variant dbSNP:rs2230793EnsemblClinVar.1
Natural variantiVAR_047482830I → M. Corresponds to variant dbSNP:rs2230794EnsemblClinVar.1
Natural variantiVAR_047483848T → N. Corresponds to variant dbSNP:rs10979599EnsemblClinVar.1
Natural variantiVAR_047484952K → I. Corresponds to variant dbSNP:rs2230798EnsemblClinVar.1
Natural variantiVAR_0474851013G → S. Corresponds to variant dbSNP:rs2230795EnsemblClinVar.1
Natural variantiVAR_0474861072C → S2 PublicationsCorresponds to variant dbSNP:rs3204145EnsemblClinVar.1
Natural variantiVAR_0474871158P → L1 PublicationCorresponds to variant dbSNP:rs1538660EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF044195 mRNA Translation: AAC64258.1
AF153419 mRNA Translation: AAG43369.1
AK001641 mRNA Translation: BAG50955.1
AK289962 mRNA Translation: BAF82651.1
AL354797 Genomic DNA No translation available.
AL359692 Genomic DNA No translation available.
CH471105 Genomic DNA Translation: EAW59027.1
AL049945 mRNA Translation: CAB43219.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6773.1

NCBI Reference Sequences

More...RefSeqi		NP_001305289.1, NM_001318360.1
NP_003631.2, NM_003640.4

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.494738

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000374647; ENSP00000363779; ENSG00000070061

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8518

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8518

UCSC genome browser

More...UCSCi		uc004bdm.5 human

<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
AF044195 mRNA Translation: AAC64258.1
AF153419 mRNA Translation: AAG43369.1
AK001641 mRNA Translation: BAG50955.1
AK289962 mRNA Translation: BAF82651.1
AL354797 Genomic DNA No translation available.
AL359692 Genomic DNA No translation available.
CH471105 Genomic DNA Translation: EAW59027.1
AL049945 mRNA Translation: CAB43219.1 Frameshift.
CCDSiCCDS6773.1
RefSeqiNP_001305289.1, NM_001318360.1
NP_003631.2, NM_003640.4
UniGeneiHs.494738

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CQRX-ray3.02A715-1332[»]
ProteinModelPortaliO95163
SMRiO95163
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114090, 81 interactors
ComplexPortaliCPX-1949 Elongator holoenzyme complex
CORUMiO95163
DIPiDIP-27579N
IntActiO95163, 43 interactors
MINTiO95163
STRINGi9606.ENSP00000363779

PTM databases

iPTMnetiO95163
PhosphoSitePlusiO95163

Polymorphism and mutation databases

BioMutaiELP1

Proteomic databases

EPDiO95163
jPOSTiO95163
MaxQBiO95163
PaxDbiO95163
PeptideAtlasiO95163
PRIDEiO95163
ProteomicsDBi50677

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374647; ENSP00000363779; ENSG00000070061
GeneIDi8518
KEGGihsa:8518
UCSCiuc004bdm.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8518
DisGeNETi8518
EuPathDBiHostDB:ENSG00000070061.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		ELP1
GeneReviewsiELP1
HGNCiHGNC:5959 ELP1
HPAiCAB021340
HPA049677
HPA050686
MalaCardsiELP1
MIMi223900 phenotype
603722 gene
neXtProtiNX_O95163
OpenTargetsiENSG00000070061
Orphaneti1764 Familial dysautonomia
PharmGKBiPA29775

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1920 Eukaryota
COG5290 LUCA
GeneTreeiENSGT00390000013344
HOVERGENiHBG019038
InParanoidiO95163
KOiK11373
OMAiKVRVWNR
OrthoDBi180136at2759
PhylomeDBiO95163
TreeFamiTF300402

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones
SignaLinkiO95163
SIGNORiO95163

Miscellaneous databases

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

More...ChiTaRSi		IKBKAP human

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

More...GenomeRNAii		8518

Protein Ontology

More...PROi		PR:O95163

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000070061 Expressed in 229 organ(s), highest expression level in metanephros
CleanExiHS_IKBKAP
ExpressionAtlasiO95163 baseline and differential
GenevisibleiO95163 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR006849 Elp1
IPR015943 WD40/YVTN_repeat-like_dom_sf
PANTHERiPTHR12747 PTHR12747, 1 hit
PfamiView protein in Pfam
PF04762 IKI3, 1 hit
PIRSFiPIRSF017233 IKAP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<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 nameiELP1_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: O95163
Secondary accession number(s): Q5JSV2, Q9H327, Q9UG87
<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: June 20, 2001
Last sequence update: November 25, 2008
Last modified: January 16, 2019
This is version 174 of the entry and version 3 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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