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Entry version 177 (05 Jun 2019)
Sequence version 3 (25 Nov 2008)
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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

GO - Biological processi

<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 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 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5959 ELP1

Online Mendelian Inheritance in Man (OMIM)

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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 & Seán O’Donoghue; 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.
Related information in OMIM
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.

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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

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Orphaneti
1764 Familial dysautonomia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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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

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EPDi
O95163

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O95163

MaxQB - The MaxQuant DataBase

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MaxQBi
O95163

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

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PaxDbi
O95163

PeptideAtlas

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PeptideAtlasi
O95163

PRoteomics IDEntifications database

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PRIDEi
O95163

ProteomicsDB human proteome resource

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ProteomicsDBi
50677

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95163

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

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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

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

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95163 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95163 HS

Organism-specific databases

Human Protein Atlas

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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)

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BioGridi
114090, 92 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1949 Elongator holoenzyme complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O95163

Database of interacting proteins

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DIPi
DIP-27579N

Protein interaction database and analysis system

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IntActi
O95163, 45 interactors

Molecular INTeraction database

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MINTi
O95163

STRING: functional protein association networks

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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

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

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SMRi
O95163

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

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eggNOGi
KOG1920 Eukaryota
COG5290 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013344

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95163

KEGG Orthology (KO)

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KOi
K11373

Identification of Orthologs from Complete Genome Data

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OMAi
CTQTELA

Database of Orthologous Groups

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OrthoDBi
180136at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95163

TreeFam database of animal gene trees

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TreeFami
TF300402

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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

The PANTHER Classification System

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PANTHERi
PTHR12747 PTHR12747, 1 hit

Pfam protein domain database

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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>. 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>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

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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CCDSi
CCDS6773.1

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000374647; ENSP00000363779; ENSG00000070061

Database of genes from NCBI RefSeq genomes

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GeneIDi
8518

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8518

UCSC genome browser

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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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CQRX-ray3.02A715-1332[»]
SMRiO95163
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114090, 92 interactors
ComplexPortaliCPX-1949 Elongator holoenzyme complex
CORUMiO95163
DIPiDIP-27579N
IntActiO95163, 45 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

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CTDi
8518
DisGeNETi8518

GeneCards: human genes, protein and diseases

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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

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1920 Eukaryota
COG5290 LUCA
GeneTreeiENSGT00390000013344
InParanoidiO95163
KOiK11373
OMAiCTQTELA
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

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ChiTaRSi
IKBKAP human

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

More...
GenomeRNAii
8518

Protein Ontology

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PROi
PR:O95163

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000070061 Expressed in 229 organ(s), highest expression level in metanephros
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

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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: June 5, 2019
This is version 177 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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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