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Entry version 171 (18 Sep 2019)
Sequence version 2 (26 Sep 2001)
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Protein

EH domain-containing protein 1

Gene

EHD1

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. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). 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 (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250).By similarity5 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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_section">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_section">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 – 500Combined sources1 PublicationAdd 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

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_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:
EH domain-containing protein 1Curated
Alternative name(s):
PAST homolog 11 Publication
Short name:
hPAST11 Publication
TestilinImported
<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:EHD1Imported
Synonyms:PAST1 Publication, PAST1Imported
ORF Names:CDABP0131
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3242 EHD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605888 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H4M9

<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_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi65G → R: Abolishes ATP-binding and localizes to cytoplasm. 1 Publication1
Mutagenesisi203V → P: Greatly reduces oligomerization and interaction with RAB11FIP2. 1 Publication1
Mutagenesisi468K → A: Loss of interaction with MICALL1. 1 Publication1
Mutagenesisi483K → E: Loss of accumulation at the ciliary pocket. Loss of function in ciliogenesis. Loss of association with tubulovesicular structures and altered MICALL1 localization. No effect on MICALL1 localization; when associated with A-485. 2 Publications1
Mutagenesisi485W → A: Loss of accumulation at the ciliary pocket. Loss of function in ciliogenesis. Abolishes interaction with RAB11FIP2. No effect on MICALL1 localization; when associated with E-483. 3 Publications1

Organism-specific databases

DisGeNET

More...
DisGeNETi
10938

Open Targets

More...
OpenTargetsi
ENSG00000110047

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27677

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H4M9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EHD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
18202945

<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_00001461091 – 534EH domain-containing protein 1Add BLAST534

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-acetylmethionineCombined sources1
Modified residuei355PhosphoserineCombined sources1
Modified residuei456PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-68
CPTAC-69

Encyclopedia of Proteome Dynamics

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EPDi
Q9H4M9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H4M9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H4M9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H4M9

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

More...
PaxDbi
Q9H4M9

PeptideAtlas

More...
PeptideAtlasi
Q9H4M9

PRoteomics IDEntifications database

More...
PRIDEi
Q9H4M9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
80867

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H4M9

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

More...
PhosphoSitePlusi
Q9H4M9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9H4M9

<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 testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000110047 Expressed in 234 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H4M9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H4M9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049890
HPA049986
HPA066751

<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

Homooligomer, and heterooligomer with EHD2, EHD3 and EHD4, ATP-binding is required for heterooligomerization (PubMed:16251358, PubMed:17233914, PubMed:18331452).

Interacts (via EH domain) with MICALL1 (via NPF1 motif); the interaction is direct and recruits EHD1 to membranes (PubMed:19864458, PubMed:20106972).

Interacts with RAB35; the interaction is indirect through MICALL1 and recruits EHD1 to membranes (By similarity).

Interacts (via EH domain) with PACSIN2 (via NPF motifs); regulates localization to tubular recycling endosome membranes (PubMed:23596323).

Interacts with PACSIN1 (By similarity).

Interacts with RAB8A (PubMed:19864458).

Interacts with FER1L5 (via second C2 domain) (By similarity).

Interacts with MYOF (By similarity).

Interacts with ZFYVE20 (PubMed:15020713).

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

By similarity8 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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116138, 84 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H4M9, 27 interactors

Molecular INTeraction database

More...
MINTi
Q9H4M9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000479153

<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

1534
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
Q9H4M9

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9H4M9

<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_and_domains_section">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
ENOG410XYGB LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158249

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000242040

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H4M9

KEGG Orthology (KO)

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KOi
K12483

Database of Orthologous Groups

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OrthoDBi
933937at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9H4M9

TreeFam database of animal gene trees

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TreeFami
TF314429

Family and domain databases

Conserved Domains Database

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CDDi
cd00052 EH, 1 hit

Integrated resource of protein families, domains and functional sites

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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

More...
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_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 6 potential isoforms that are computationally mapped.Show allAlign All

Q9H4M9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFSWVSKDAR RKKEPELFQT VAEGLRQLYA QKLLPLEEHY RFHEFHSPAL
60 70 80 90 100
EDADFDNKPM VLLVGQYSTG KTTFIRHLIE QDFPGMRIGP EPTTDSFIAV
110 120 130 140 150
MHGPTEGVVP GNALVVDPRR PFRKLNAFGN AFLNRFMCAQ LPNPVLDSIS
160 170 180 190 200
IIDTPGILSG EKQRISRGYD FAAVLEWFAE RVDRIILLFD AHKLDISDEF
210 220 230 240 250
SEVIKALKNH EDKIRVVLNK ADQIETQQLM RVYGALMWSL GKIINTPEVV
260 270 280 290 300
RVYIGSFWSH PLLIPDNRKL FEAEEQDLFK DIQSLPRNAA LRKLNDLIKR
310 320 330 340 350
ARLAKVHAYI ISSLKKEMPN VFGKESKKKE LVNNLGEIYQ KIEREHQISP
360 370 380 390 400
GDFPSLRKMQ ELLQTQDFSK FQALKPKLLD TVDDMLANDI ARLMVMVRQE
410 420 430 440 450
ESLMPSQVVK GGAFDGTMNG PFGHGYGEGA GEGIDDVEWV VGKDKPTYDE
460 470 480 490 500
IFYTLSPVNG KITGANAKKE MVKSKLPNTV LGKIWKLADV DKDGLLDDEE
510 520 530
FALANHLIKV KLEGHELPAD LPPHLVPPSK RRHE
Length:534
Mass (Da):60,627
Last modified:September 26, 2001 - 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:i3330218772A26CE4
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A024R571A0A024R571_HUMAN
EH domain-containing protein 1
EHD1 hCG_23386
548Annotation score:

Annotation score:3 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>
C9JC03C9JC03_HUMAN
EH domain-containing protein 1
EHD1
374Annotation score:

Annotation score:2 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>
C9J2Z4C9J2Z4_HUMAN
EH domain-containing protein 1
EHD1
306Annotation 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>
C9JDQ8C9JDQ8_HUMAN
EH domain-containing protein 1
EHD1
162Annotation 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>
C9IZH1C9IZH1_HUMAN
EH domain-containing protein 1
EHD1
148Annotation 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>
C9JIJ3C9JIJ3_HUMAN
EH domain-containing protein 1
EHD1
145Annotation 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>

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 conflicti127A → R in AAD45866 (PubMed:10395801).Curated1
Sequence conflicti180 – 182ERV → DCW in AAD45866 (PubMed:10395801).Curated3
Sequence conflicti194L → Q in AAD45866 (PubMed:10395801).Curated1
Sequence conflicti198D → H in AAD45866 (PubMed:10395801).Curated1
Sequence conflicti216V → M in AAD45866 (PubMed:10395801).Curated1
Sequence conflicti435D → H in AAB81204 (PubMed:9253601).Curated1
Sequence conflicti447T → S in AAD45866 (PubMed:10395801).Curated1
Sequence conflicti467A → V in AAD45866 (PubMed:10395801).Curated1
Sequence conflicti480V → E in AAD45866 (PubMed:10395801).Curated1
Sequence conflicti530 – 534KRRHE → SAWGH in AAG02009 (Ref. 3) Curated5

Sequence databases

Select the link destinations:

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
AF001434 mRNA Translation: AAB81204.1
AF099011 mRNA Translation: AAD45866.1
AY007161 mRNA Translation: AAG02009.1
BC104799 mRNA Translation: AAI04800.1
BC104825 mRNA Translation: AAI04826.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8084.1

NCBI Reference Sequences

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RefSeqi
NP_001269373.1, NM_001282444.1
NP_001269374.1, NM_001282445.1
NP_006786.2, NM_006795.3
XP_011543041.1, XM_011544739.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000320631; ENSP00000320516; ENSG00000110047
ENST00000359393; ENSP00000352354; ENSG00000110047

Database of genes from NCBI RefSeq genomes

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GeneIDi
10938

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10938

UCSC genome browser

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UCSCi
uc001obu.3 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
AF001434 mRNA Translation: AAB81204.1
AF099011 mRNA Translation: AAD45866.1
AY007161 mRNA Translation: AAG02009.1
BC104799 mRNA Translation: AAI04800.1
BC104825 mRNA Translation: AAI04826.1
CCDSiCCDS8084.1
RefSeqiNP_001269373.1, NM_001282444.1
NP_001269374.1, NM_001282445.1
NP_006786.2, NM_006795.3
XP_011543041.1, XM_011544739.1

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
2JQ6NMR-A401-534[»]
2KFFNMR-A435-534[»]
2KFGNMR-A435-534[»]
2KFHNMR-A435-534[»]
2KSPNMR-A435-534[»]
SMRiQ9H4M9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi116138, 84 interactors
IntActiQ9H4M9, 27 interactors
MINTiQ9H4M9
STRINGi9606.ENSP00000479153

PTM databases

iPTMnetiQ9H4M9
PhosphoSitePlusiQ9H4M9
SwissPalmiQ9H4M9

Polymorphism and mutation databases

BioMutaiEHD1
DMDMi18202945

Proteomic databases

CPTACiCPTAC-68
CPTAC-69
EPDiQ9H4M9
jPOSTiQ9H4M9
MassIVEiQ9H4M9
MaxQBiQ9H4M9
PaxDbiQ9H4M9
PeptideAtlasiQ9H4M9
PRIDEiQ9H4M9
ProteomicsDBi80867

Genome annotation databases

EnsembliENST00000320631; ENSP00000320516; ENSG00000110047
ENST00000359393; ENSP00000352354; ENSG00000110047
GeneIDi10938
KEGGihsa:10938
UCSCiuc001obu.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10938
DisGeNETi10938

GeneCards: human genes, protein and diseases

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GeneCardsi
EHD1
HGNCiHGNC:3242 EHD1
HPAiHPA049890
HPA049986
HPA066751
MIMi605888 gene
neXtProtiNX_Q9H4M9
OpenTargetsiENSG00000110047
PharmGKBiPA27677

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1954 Eukaryota
ENOG410XYGB LUCA
GeneTreeiENSGT00940000158249
HOGENOMiHOG000242040
InParanoidiQ9H4M9
KOiK12483
OrthoDBi933937at2759
PhylomeDBiQ9H4M9
TreeFamiTF314429

Enzyme and pathway databases

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

Miscellaneous databases

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

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ChiTaRSi
EHD1 human
EvolutionaryTraceiQ9H4M9

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
EHD1

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

More...
GenomeRNAii
10938
PharosiQ9H4M9

Protein Ontology

More...
PROi
PR:Q9H4M9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000110047 Expressed in 234 organ(s), highest expression level in testis
ExpressionAtlasiQ9H4M9 baseline and differential
GenevisibleiQ9H4M9 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
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiEHD1_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: Q9H4M9
Secondary accession number(s): O14611, Q2M3Q4, Q9UNR3
<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: September 26, 2001
Last sequence update: September 26, 2001
Last modified: September 18, 2019
This is version 171 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

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

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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