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Entry version 162 (12 Aug 2020)
Sequence version 2 (13 Jul 2010)
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Protein

EH domain-containing protein 3

Gene

EHD3

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

ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). In vitro causes tubulation of endocytic membranes (PubMed:24019528). Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology (PubMed:16251358, PubMed:17233914, PubMed:19139087, PubMed:23781025). Involved in the recycling of internalized D1 dopamine receptor (PubMed:21791287). Plays a role in cardiac protein trafficking probably implicating ANK2 (PubMed:20489164). Involved in the ventricular membrane targeting of SLC8A1 and CACNA1C and probably the atrial membrane localization of CACNA1GG and CACNA1H implicated in the regulation of atrial myocyte excitability and cardiac conduction (By similarity). In conjunction with EHD4 may be involved in endocytic trafficking of KDR/VEGFR2 implicated in control of glomerular function (By similarity). Involved in the rapid recycling of integrin beta-3 implicated in cell adhesion maintenance (PubMed:23781025). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis; possibly sharing redundant functions with EHD1 (PubMed:25686250).By similarity1 Publication7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei220ATPBy similarity1
Binding sitei258ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi65 – 72ATP1 Publication8
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi489 – 500PROSITE-ProRule annotationBy similarityAdd BLAST12

<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

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 processCilium biogenesis/degradation, Protein transport, Transport
LigandATP-binding, Calcium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NZN3

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983231, Factors involved in megakaryocyte development and platelet production

<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%5Fand%5Ftaxonomy%5Fsection">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:
EH domain-containing protein 3Curated
Alternative name(s):
PAST homolog 3Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:EHD3Imported
Synonyms:EHD21 Publication, PAST3Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000013016.14

Human Gene Nomenclature Database

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HGNCi
HGNC:3244, EHD3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605891, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZN3

<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

Cell membrane, Cell projection, Cilium, Endosome, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi65G → R: Abolishes ATP-binding and localizes to cytoplasm. 1 Publication1
Mutagenesisi203V → P: Greatly reduces oligomerization and interaction with RAB11FIP2. 1 Publication1
Mutagenesisi315K → R: Abolishes sumoylation and localization to tubular structures of the ERC, impairs fast recycling activity from the ERC, no effect on homooligomerization; when associated with R-511. 1 Publication1
Mutagenesisi485W → A: Abolishes interaction with RAB11FIP2. 1 Publication1
Mutagenesisi511K → R: Abolishes sumoylation localization to tubular structures of the ERC, impairs fast recycling activity from the ERC, no effect on homooligomerization;; when associated with R-315. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
30845

Open Targets

More...
OpenTargetsi
ENSG00000013016

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27679

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZN3, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EHD3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669636

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001461121 – 535EH domain-containing protein 3Add BLAST535

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 residuei1N-acetylmethionine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki315Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei349PhosphoserineBy similarity1
Modified residuei456PhosphoserineBy similarity1
Cross-linki511Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NZN3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NZN3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NZN3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZN3

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

More...
PaxDbi
Q9NZN3

PeptideAtlas

More...
PeptideAtlasi
Q9NZN3

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZN3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
4072
83458 [Q9NZN3-1]

2D gel databases

USC-OGP 2-DE database

More...
OGPi
Q9NZN3

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZN3

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q9NZN3

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

More...
PhosphoSitePlusi
Q9NZN3

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in heart and brain and moderately expressed in kidney, liver, and placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000013016, Expressed in cerebellar vermis and 217 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NZN3, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000013016, Tissue enhanced (brain, esophagus)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer, and heterooligomer with EHD1, EHD2 and EHD4, ATP-binding is required for heterooligomerization (PubMed:16251358, PubMed:17233914).

Interacts with PACSIN1 (By similarity).

Interacts with PACSIN2 (By similarity).

Interacts (via EH domain) with MICALL1 (PubMed:19864458).

Interacts (via EH domain) with RAB11FIP2 (PubMed:16251358).

Interacts with ANK2 (PubMed:20489164).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
119055, 13 interactors

Protein interaction database and analysis system

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IntActi
Q9NZN3, 11 interactors

Molecular INTeraction database

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MINTi
Q9NZN3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000327116

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NZN3, protein

<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

3D structure databases

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

More...
SMRi
Q9NZN3

Database of comparative protein structure models

More...
ModBasei
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini55 – 286Dynamin-type GPROSITE-ProRule annotationAdd BLAST232
Domaini444 – 532EHPROSITE-ProRule annotationAdd BLAST89
Domaini476 – 511EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni65 – 72G1 motifPROSITE-ProRule annotation8
Regioni91 – 92G2 motifPROSITE-ProRule annotation2
Regioni153 – 156G3 motifPROSITE-ProRule annotation4
Regioni219 – 222G4 motifPROSITE-ProRule annotation4
Regioni243G5 motifPROSITE-ProRule annotation1

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili198 – 227Sequence analysisAdd BLAST30

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.By similarity

<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 TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1954, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000159274

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_017595_1_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NZN3

KEGG Orthology (KO)

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KOi
K12476

Identification of Orthologs from Complete Genome Data

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OMAi
FDRWLQN

Database of Orthologous Groups

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OrthoDBi
377342at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NZN3

TreeFam database of animal gene trees

More...
TreeFami
TF314429

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00052, EH, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR040990, DUF5600
IPR022812, Dynamin_SF
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR000261, EH_dom
IPR029951, EHD1/EHD3
IPR031692, EHD_N
IPR030381, G_DYNAMIN_dom
IPR027417, P-loop_NTPase

The PANTHER Classification System

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PANTHERi
PTHR11216:SF127, PTHR11216:SF127, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF18150, DUF5600, 1 hit
PF00350, Dynamin_N, 1 hit
PF12763, EF-hand_4, 1 hit
PF16880, EHD_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00027, EH, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47473, SSF47473, 1 hit
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 1 hit
PS50031, EH, 1 hit
PS51718, G_DYNAMIN_2, 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%5Flength">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 (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NZN3-1) [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
MFSWLGTDDR RRKDPEVFQT VSEGLKKLYK SKLLPLEEHY RFHEFHSPAL
60 70 80 90 100
EDADFDNKPM VLLVGQYSTG KTTFIRYLLE QDFPGMRIGP EPTTDSFIAV
110 120 130 140 150
MQGDMEGIIP GNALVVDPKK PFRKLNAFGN AFLNRFVCAQ LPNPVLESIS
160 170 180 190 200
VIDTPGILSG EKQRISRGYD FAAVLEWFAE RVDRIILLFD AHKLDISDEF
210 220 230 240 250
SEVIKALKNH EDKMRVVLNK ADQIETQQLM RVYGALMWSL GKIVNTPEVI
260 270 280 290 300
RVYIGSFWSH PLLIPDNRKL FEAEEQDLFR DIQSLPRNAA LRKLNDLIKR
310 320 330 340 350
ARLAKVHAYI ISSLKKEMPS VFGKDNKKKE LVNNLAEIYG RIEREHQISP
360 370 380 390 400
GDFPNLKRMQ DQLQAQDFSK FQPLKSKLLE VVDDMLAHDI AQLMVLVRQE
410 420 430 440 450
ESQRPIQMVK GGAFEGTLHG PFGHGYGEGA GEGIDDAEWV VARDKPMYDE
460 470 480 490 500
IFYTLSPVDG KITGANAKKE MVRSKLPNSV LGKIWKLADI DKDGMLDDDE
510 520 530
FALANHLIKV KLEGHELPNE LPAHLLPPSK RKVAE
Length:535
Mass (Da):60,887
Last modified:July 13, 2010 - 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:i0F8AE99F84B966AD
GO
Isoform 2 (identifier: Q9NZN3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-175: YDFAAVL → PAAGPGL
     176-535: Missing.

Show »
Length:175
Mass (Da):19,584
Checksum:i6C1112ED8EEDEA46
GO

<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 AAF40471 differs from that shown. Reason: Frameshift.Curated

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_056606169 – 175YDFAAVL → PAAGPGL in isoform 2. 1 Publication7
Alternative sequenceiVSP_056607176 – 535Missing in isoform 2. 1 PublicationAdd BLAST360

Sequence databases

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EMBL nucleotide sequence database

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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
AF181264 mRNA Translation: AAF40471.1 Frameshift.
AF214736 mRNA Translation: AAF32285.1
AK294222 mRNA Translation: BAG57526.1
AK316006 mRNA Translation: BAH14377.1
AL121657 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00480.1
CH471053 Genomic DNA Translation: EAX00481.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1774.1 [Q9NZN3-1]

NCBI Reference Sequences

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RefSeqi
NP_055415.1, NM_014600.2 [Q9NZN3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000322054; ENSP00000327116; ENSG00000013016 [Q9NZN3-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
30845

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:30845

UCSC genome browser

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UCSCi
uc002rnu.4, human [Q9NZN3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF181264 mRNA Translation: AAF40471.1 Frameshift.
AF214736 mRNA Translation: AAF32285.1
AK294222 mRNA Translation: BAG57526.1
AK316006 mRNA Translation: BAH14377.1
AL121657 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00480.1
CH471053 Genomic DNA Translation: EAX00481.1
CCDSiCCDS1774.1 [Q9NZN3-1]
RefSeqiNP_055415.1, NM_014600.2 [Q9NZN3-1]

3D structure databases

SMRiQ9NZN3
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119055, 13 interactors
IntActiQ9NZN3, 11 interactors
MINTiQ9NZN3
STRINGi9606.ENSP00000327116

PTM databases

iPTMnetiQ9NZN3
MetOSiteiQ9NZN3
PhosphoSitePlusiQ9NZN3

Polymorphism and mutation databases

BioMutaiEHD3
DMDMi300669636

2D gel databases

OGPiQ9NZN3

Proteomic databases

EPDiQ9NZN3
jPOSTiQ9NZN3
MassIVEiQ9NZN3
MaxQBiQ9NZN3
PaxDbiQ9NZN3
PeptideAtlasiQ9NZN3
PRIDEiQ9NZN3
ProteomicsDBi4072
83458 [Q9NZN3-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
29084, 134 antibodies

The DNASU plasmid repository

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DNASUi
30845

Genome annotation databases

EnsembliENST00000322054; ENSP00000327116; ENSG00000013016 [Q9NZN3-1]
GeneIDi30845
KEGGihsa:30845
UCSCiuc002rnu.4, human [Q9NZN3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
30845
DisGeNETi30845
EuPathDBiHostDB:ENSG00000013016.14

GeneCards: human genes, protein and diseases

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GeneCardsi
EHD3
HGNCiHGNC:3244, EHD3
HPAiENSG00000013016, Tissue enhanced (brain, esophagus)
MIMi605891, gene
neXtProtiNX_Q9NZN3
OpenTargetsiENSG00000013016
PharmGKBiPA27679

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1954, Eukaryota
GeneTreeiENSGT00940000159274
HOGENOMiCLU_017595_1_1_1
InParanoidiQ9NZN3
KOiK12476
OMAiFDRWLQN
OrthoDBi377342at2759
PhylomeDBiQ9NZN3
TreeFamiTF314429

Enzyme and pathway databases

PathwayCommonsiQ9NZN3
ReactomeiR-HSA-983231, Factors involved in megakaryocyte development and platelet production

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
30845, 3 hits in 872 CRISPR screens

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

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ChiTaRSi
EHD3, human

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

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GenomeRNAii
30845
PharosiQ9NZN3, Tbio

Protein Ontology

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PROi
PR:Q9NZN3
RNActiQ9NZN3, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000013016, Expressed in cerebellar vermis and 217 other tissues
GenevisibleiQ9NZN3, HS

Family and domain databases

CDDicd00052, EH, 1 hit
InterProiView protein in InterPro
IPR040990, DUF5600
IPR022812, Dynamin_SF
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR000261, EH_dom
IPR029951, EHD1/EHD3
IPR031692, EHD_N
IPR030381, G_DYNAMIN_dom
IPR027417, P-loop_NTPase
PANTHERiPTHR11216:SF127, PTHR11216:SF127, 1 hit
PfamiView protein in Pfam
PF18150, DUF5600, 1 hit
PF00350, Dynamin_N, 1 hit
PF12763, EF-hand_4, 1 hit
PF16880, EHD_N, 1 hit
SMARTiView protein in SMART
SM00027, EH, 1 hit
SUPFAMiSSF47473, SSF47473, 1 hit
SSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 1 hit
PS50031, EH, 1 hit
PS51718, G_DYNAMIN_2, 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 nameiEHD3_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: Q9NZN3
Secondary accession number(s): B4DFR5
, D6W574, Q8N514, Q9NZB3
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: July 13, 2010
Last modified: August 12, 2020
This is version 162 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

Direct protein sequencing, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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