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Protein

EF-hand domain-containing protein D1

Gene

EFHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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

Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi103 – 1141PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi139 – 1502PROSITE-ProRule annotationAdd 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

LigandCalcium, Metal-binding

<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:
EF-hand domain-containing protein D1
Alternative name(s):
EF-hand domain-containing protein 1
Swiprosin-2
<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:EFHD1
Synonyms:SWS2
ORF Names:PP3051
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000115468.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29556 EFHD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611617 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BUP0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner 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>Mutagenesisi103D → A in mtEFHD1; abolished ability to enhance mitoflash activity; when associated with K-114; A-139 and K-150. 1 Publication1
Mutagenesisi114E → K in mtEFHD1; abolished ability to enhance mitoflash activity; when associated with A-103; A-139 and K-150. 1 Publication1
Mutagenesisi139D → A in mtEFHD1; abolished ability to enhance mitoflash activity; when associated with A-103; K-114 and K-150. 1 Publication1
Mutagenesisi150E → K in mtEFHD1; abolished ability to enhance mitoflash activity; when associated with A-103; K-114 and A-139. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
80303

Open Targets

More...
OpenTargetsi
ENSG00000115468

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134935372

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFHD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20140222

<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_00000736431 – 239EF-hand domain-containing protein D1Add BLAST239

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 residuei201PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9BUP0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BUP0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BUP0

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

More...
PaxDbi
Q9BUP0

PeptideAtlas

More...
PeptideAtlasi
Q9BUP0

PRoteomics IDEntifications database

More...
PRIDEi
Q9BUP0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
79116

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BUP0

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

More...
PhosphoSitePlusi
Q9BUP0

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115468 Expressed in 215 organ(s), highest expression level in inferior olivary complex

CleanEx database of gene expression profiles

More...
CleanExi
HS_EFHD1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BUP0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BUP0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049331
HPA056959

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123216, 16 interactors

Protein interaction database and analysis system

More...
IntActi
Q9BUP0, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000264059

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9BUP0

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

More...
SMRi
Q9BUP0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

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>Domaini90 – 125EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini126 – 161EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0041 Eukaryota
ENOG4111JG9 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012058

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051446

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BUP0

Identification of Orthologs from Complete Genome Data

More...
OMAi
PRRCKVF

Database of Orthologous Groups

More...
OrthoDBi
1511376at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BUP0

TreeFam database of animal gene trees

More...
TreeFami
TF320736

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00051 EFh, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR040365 EFHD1/2

The PANTHER Classification System

More...
PANTHERi
PTHR13025 PTHR13025, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13499 EF-hand_7, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00054 EFh, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50222 EF_HAND_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

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

This entry describes 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BUP0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MASEELACKL ERRLRREEAE ESGPQLAPLG APAPEPKPEP EPPARAPTAS
60 70 80 90 100
ADAELSAQLS RRLDINEGAA RPRRCRVFNP YTEFPEFSRR LIKDLESMFK
110 120 130 140 150
LYDAGRDGFI DLMELKLMME KLGAPQTHLG LKSMIKEVDE DFDGKLSFRE
160 170 180 190 200
FLLIFHKAAA GELQEDSGLM ALAKLSEIDV ALEGVKGAKN FFEAKVQALS
210 220 230
SASKFEAELK AEQDERKREE EERRLRQAAF QKLKANFNT
Length:239
Mass (Da):26,928
Last modified:June 1, 2001 - v1
<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:i1712F79E2A3CC007
GO
Isoform 2 (identifier: Q9BUP0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-101: MASEELACKL...IKDLESMFKL → MGELQ

Note: No experimental confirmation available.
Show »
Length:143
Mass (Da):16,145
Checksum:iAF28A675916BE056
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q8WYH2Q8WYH2_HUMAN
EF-hand domain-containing protein D...
EFHD1 DKFZp781H0842, PP1187
127Annotation 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>
A0A087X1Z2A0A087X1Z2_HUMAN
EF-hand domain-containing protein D...
EFHD1
142Annotation 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>
C9JTV4C9JTV4_HUMAN
EF-hand domain-containing protein D...
EFHD1
81Annotation 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>
H7C0I0H7C0I0_HUMAN
EF-hand domain-containing protein D...
EFHD1
99Annotation 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 AAG17248 differs from that shown. Reason: Frameshift at position 72.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_047966186K → R2 PublicationsCorresponds to variant dbSNP:rs11550699Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0455411 – 101MASEE…SMFKL → MGELQ in isoform 2. 1 PublicationAdd BLAST101

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

More...
DDBJi
Links Updated
AF218006 mRNA Translation: AAG17248.1 Frameshift.
AK023674 mRNA Translation: BAB14634.1
AK310565 mRNA No translation available.
AK315442 mRNA Translation: BAG37830.1
AC064852 Genomic DNA No translation available.
AC073254 Genomic DNA No translation available.
BC002449 mRNA Translation: AAH02449.1
BC004128 mRNA Translation: AAH04128.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2497.1 [Q9BUP0-1]
CCDS58755.1 [Q9BUP0-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001230181.1, NM_001243252.1 [Q9BUP0-2]
NP_001295324.1, NM_001308395.1
NP_079478.1, NM_025202.3 [Q9BUP0-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.516769
Hs.744624

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264059; ENSP00000264059; ENSG00000115468 [Q9BUP0-1]
ENST00000409613; ENSP00000386556; ENSG00000115468 [Q9BUP0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80303

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:80303

UCSC genome browser

More...
UCSCi
uc002vtc.4 human [Q9BUP0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF218006 mRNA Translation: AAG17248.1 Frameshift.
AK023674 mRNA Translation: BAB14634.1
AK310565 mRNA No translation available.
AK315442 mRNA Translation: BAG37830.1
AC064852 Genomic DNA No translation available.
AC073254 Genomic DNA No translation available.
BC002449 mRNA Translation: AAH02449.1
BC004128 mRNA Translation: AAH04128.2
CCDSiCCDS2497.1 [Q9BUP0-1]
CCDS58755.1 [Q9BUP0-2]
RefSeqiNP_001230181.1, NM_001243252.1 [Q9BUP0-2]
NP_001295324.1, NM_001308395.1
NP_079478.1, NM_025202.3 [Q9BUP0-1]
UniGeneiHs.516769
Hs.744624

3D structure databases

ProteinModelPortaliQ9BUP0
SMRiQ9BUP0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123216, 16 interactors
IntActiQ9BUP0, 6 interactors
STRINGi9606.ENSP00000264059

PTM databases

iPTMnetiQ9BUP0
PhosphoSitePlusiQ9BUP0

Polymorphism and mutation databases

BioMutaiEFHD1
DMDMi20140222

Proteomic databases

EPDiQ9BUP0
jPOSTiQ9BUP0
MaxQBiQ9BUP0
PaxDbiQ9BUP0
PeptideAtlasiQ9BUP0
PRIDEiQ9BUP0
ProteomicsDBi79116

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264059; ENSP00000264059; ENSG00000115468 [Q9BUP0-1]
ENST00000409613; ENSP00000386556; ENSG00000115468 [Q9BUP0-2]
GeneIDi80303
KEGGihsa:80303
UCSCiuc002vtc.4 human [Q9BUP0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80303
DisGeNETi80303
EuPathDBiHostDB:ENSG00000115468.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EFHD1
HGNCiHGNC:29556 EFHD1
HPAiHPA049331
HPA056959
MIMi611617 gene
neXtProtiNX_Q9BUP0
OpenTargetsiENSG00000115468
PharmGKBiPA134935372

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0041 Eukaryota
ENOG4111JG9 LUCA
GeneTreeiENSGT00390000012058
HOVERGENiHBG051446
InParanoidiQ9BUP0
OMAiPRRCKVF
OrthoDBi1511376at2759
PhylomeDBiQ9BUP0
TreeFamiTF320736

Miscellaneous databases

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

More...
ChiTaRSi
EFHD1 human

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

More...
GenomeRNAii
80303

Protein Ontology

More...
PROi
PR:Q9BUP0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115468 Expressed in 215 organ(s), highest expression level in inferior olivary complex
CleanExiHS_EFHD1
ExpressionAtlasiQ9BUP0 baseline and differential
GenevisibleiQ9BUP0 HS

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR040365 EFHD1/2
PANTHERiPTHR13025 PTHR13025, 1 hit
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 2 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiEFHD1_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: Q9BUP0
Secondary accession number(s): B2RD83
, E9PFH3, Q9BTF8, Q9H8I2, Q9HBQ0
<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: January 23, 2002
Last sequence update: June 1, 2001
Last modified: January 16, 2019
This is version 152 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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