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Entry version 141 (10 Feb 2021)
Sequence version 1 (21 Dec 2004)
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Protein

EF-hand calcium-binding domain-containing protein 6

Gene

EFCAB6

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

Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bindingi754 – 765PROSITE-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

<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

Molecular functionRepressor
Biological processTranscription, Transcription regulation
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q5THR3

<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:
EF-hand calcium-binding domain-containing protein 6
Alternative name(s):
CAP-binding protein complex-interacting protein 1
DJ-1-binding protein
Short name:
DJBP
<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:EFCAB6
Synonyms:DJBP, KIAA1672
<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 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24204, EFCAB6

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5THR3

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000186976.14

<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

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
64800

Open Targets

More...
OpenTargetsi
ENSG00000186976

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162384324

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5THR3, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFCAB6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74756634

<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_00002460241 – 1501EF-hand calcium-binding domain-containing protein 6Add BLAST1501

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 residuei884PhosphothreonineBy similarity1
Modified residuei1290PhosphoserineBy similarity1
Modified residuei1294PhosphothreonineBy similarity1
Modified residuei1304PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5THR3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5THR3

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

More...
PaxDbi
Q5THR3

PeptideAtlas

More...
PeptideAtlasi
Q5THR3

PRoteomics IDEntifications database

More...
PRIDEi
Q5THR3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
65162 [Q5THR3-1]
65163 [Q5THR3-2]
65164 [Q5THR3-3]
65165 [Q5THR3-4]
65166 [Q5THR3-5]
65167 [Q5THR3-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5THR3

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

More...
PhosphoSitePlusi
Q5THR3

<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

Specifically expressed in the testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000186976, Expressed in right testis and 148 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5THR3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5THR3, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000186976, Tissue enhanced (pituitary gland, testis)

<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

Binds PARK7.

Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
122306, 5 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q5THR3

Protein interaction database and analysis system

More...
IntActi
Q5THR3, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262726

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5THR3, 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

Secondary structure

11501
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

More...
SMRi
Q5THR3

Database of comparative protein structure models

More...
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
Q5THR3

<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>Domaini70 – 105EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini172 – 207EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini297 – 332EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini403 – 438EF-hand 4PROSITE-ProRule annotationAdd BLAST36
Domaini439 – 474EF-hand 5PROSITE-ProRule annotationAdd BLAST36
Domaini504 – 539EF-hand 6PROSITE-ProRule annotationAdd BLAST36
Domaini634 – 669EF-hand 7PROSITE-ProRule annotationAdd BLAST36
Domaini741 – 776EF-hand 8PROSITE-ProRule annotationAdd BLAST36
Domaini847 – 882EF-hand 9PROSITE-ProRule annotationAdd BLAST36
Domaini883 – 918EF-hand 10PROSITE-ProRule annotationAdd BLAST36
Domaini964 – 999EF-hand 11PROSITE-ProRule annotationAdd BLAST36
Domaini1069 – 1104EF-hand 12PROSITE-ProRule annotationAdd BLAST36
Domaini1176 – 1211EF-hand 13PROSITE-ProRule annotationAdd BLAST36
Domaini1212 – 1247EF-hand 14PROSITE-ProRule annotationAdd BLAST36
Domaini1359 – 1394EF-hand 15PROSITE-ProRule annotationAdd BLAST36
Domaini1434 – 1469EF-hand 16PROSITE-ProRule annotationAdd BLAST36
Domaini1470 – 1501EF-hand 17PROSITE-ProRule annotationAdd BLAST32

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>Regioni1303 – 1501Interaction with PARK71 PublicationAdd BLAST199
Regioni1407 – 1501Interaction with AR1 PublicationAdd BLAST95

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0027, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013629

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_004260_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5THR3

Identification of Orthologs from Complete Genome Data

More...
OMAi
IHWKYFL

Database of Orthologous Groups

More...
OrthoDBi
193070at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5THR3

TreeFam database of animal gene trees

More...
TreeFami
TF329179

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR015070, EF_hand_DJBP
IPR002048, EF_hand_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08976, EF-hand_11, 2 hits
PF13499, EF-hand_7, 1 hit
PF13833, EF-hand_8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00054, EFh, 12 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473, SSF47473, 7 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 17 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%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 (6+)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 6 <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

This entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5THR3-1) [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
MCKMAIIPDW LRSHPHTRKF THSRPHSSPC RVYSRNGSPN KFRSSSTTAV
60 70 80 90 100
ANPTLSSLDV KRILFQKITD RGDELQKAFQ LLDTGQNLTV SKSELRRIIT
110 120 130 140 150
DFLMPLTREQ FQDVLAQIPL STSGTVPYLA FLSRFGGIDL YINGIKRGGG
160 170 180 190 200
NEMNCCRTLR ELEIQVGEKV FKNIKTVMKA FELIDVNKTG LVRPQELRRV
210 220 230 240 250
LETFCMKLRD EEYEKFSKHY NIHKDTAVDY NVFLKNLSIN NDLNLRYCMG
260 270 280 290 300
NQEVSLENQQ AKNSKKERLL GSASSEDIWR NYSLDEIERN FCLQLSKSYE
310 320 330 340 350
KVEKALSAGD PCKGGYVSFN YLKIVLDTFV YQIPRRIFIQ LMKRFGLKAT
360 370 380 390 400
TKINWKQFLT SFHEPQGLQV SSKGPLTKRN SINSRNESHK ENIITKLFRH
410 420 430 440 450
TEDHSASLKK ALLIINTKPD GPITREEFRY ILNCMAVKLS DSEFKELMQM
460 470 480 490 500
LDPGDTGVVN TSMFIDLIEE NCRMRKTSPC TDAKTPFLLA WDSVEEIVHD
510 520 530 540 550
TITRNLQAFY NMLRSYDLGD TGRIGRNNFK KIMHVFCPFL TNAHFIKLCS
560 570 580 590 600
KIQDIGSGRI LYKKLLACIG IDGPPTVSPV LVPKDQLLSE HLQKDEQQQP
610 620 630 640 650
DLSERTKLTE DKTTLTKKMT TEEVIEKFKK CIQQQDPAFK KRFLDFSKEP
660 670 680 690 700
NGKINVHDFK KVLEDTGMPM DDDQYALLTT KIGFEKEGMS YLDFAAGFED
710 720 730 740 750
PPMRGPETTP PQPPTPSKSY VNSHFITAEE CLKLFPRRLK ESFRDPYSAF
760 770 780 790 800
FKTDADRDGI INMHDLHRLL LHLLLNLKDD EFERFLGLLG LRLSVTLNFR
810 820 830 840 850
EFQNLCEKRP WRTDEAPQRL IRPKQKVADS ELACEQAHQY LVTKAKNRWS
860 870 880 890 900
DLSKNFLETD NEGNGILRRR DIKNALYGFD IPLTPREFEK LWARYDTEGK
910 920 930 940 950
GHITYQEFLQ KLGINYSPAV HRPCAEDYFN FMGHFTKPQQ LQEEMKELQQ
960 970 980 990 1000
STEKAVAARD KLMDRHQDIS KAFTKTDQSK TNYISICKMQ EVLEECGCSL
1010 1020 1030 1040 1050
TEGELTHLLN SWGVSRHDNA INYLDFLRAV ENSKSTGAQP KEKEESMPIN
1060 1070 1080 1090 1100
FATLNPQEAV RKIQEVVESS QLALSTAFSA LDKEDTGFVK ATEFGQVLKD
1110 1120 1130 1140 1150
FCYKLTDNQY HYFLRKLRIH LTPYINWKYF LQNFSCFLEE TADEWAEKMP
1160 1170 1180 1190 1200
KGPPPTSPKA TADRDILARL HKAVTSHYHA ITQEFENFDT MKTNTISREE
1210 1220 1230 1240 1250
FRAICNRRVQ ILTDEQFDRL WNEMPVNAKG RLKYPDFLSR FSSETAATPM
1260 1270 1280 1290 1300
ATGDSAVAQR GSSVPDVSEG TRSALSLPTQ ELRPGSKSQS HPCTPASTTV
1310 1320 1330 1340 1350
IPGTPPLQNC DPIESRLRKR IQGCWRQLLK ECKEKDVARQ GDINASDFLA
1360 1370 1380 1390 1400
LVEKFNLDIS KEECQQLIIK YDLKSNGKFA YCDFIQSCVL LLKAKESSLM
1410 1420 1430 1440 1450
HRMKIQNAHK MKEAGAETPS FYSALLRIQP KIVHCWRPMR RTFKSYDEAG
1460 1470 1480 1490 1500
TGLLSVADFR TVLRQYSINL SEEEFFHILE YYDKTLSSKI SYNDFLRAFL

Q
Length:1,501
Mass (Da):172,930
Last modified:December 21, 2004 - 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:i1D380F63D7FA8FF9
GO
Isoform 2 (identifier: Q5THR3-2) [UniParc]FASTAAdd to basket
Also known as: Isoform b

The sequence of this isoform differs from the canonical sequence as follows:
     1-152: Missing.

Show »
Length:1,349
Mass (Da):155,839
Checksum:iF87F0B8368C7E476
GO
Isoform 3 (identifier: Q5THR3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-931: Missing.

Show »
Length:570
Mass (Da):65,308
Checksum:iF3FB697CB1D3161E
GO
Isoform 4 (identifier: Q5THR3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1139: Missing.
     1140-1140: E → M

Show »
Length:362
Mass (Da):41,263
Checksum:i46B36F8248128C3F
GO
Isoform 6 (identifier: Q5THR3-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     418-420: KPD → VRF
     421-1501: Missing.

Show »
Length:420
Mass (Da):48,464
Checksum:iCC793F6A57192EA9
GO
Isoform 5 (identifier: Q5THR3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1217-1249: FDRLWNEMPVNAKGRLKYPDFLSRFSSETAATP → VRNASQSSPCTPLAERQPGPWPECTEFKTVLYF
     1250-1501: Missing.

Show »
Length:1,249
Mass (Da):144,276
Checksum:iD35F8F03F7772E08
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QYI5B0QYI5_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB6 hCG_1734403
200Annotation 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 conflicti478S → P in BAF85187 (PubMed:14702039).Curated1
Sequence conflicti726I → V in BAF85187 (PubMed:14702039).Curated1
Sequence conflicti833A → V in BAF85187 (PubMed:14702039).Curated1
Sequence conflicti882P → S in BAF85100 (PubMed:14702039).Curated1
Sequence conflicti990Q → H in BAB71780 (PubMed:12612053).Curated1
Sequence conflicti990Q → H in BAB15703 (PubMed:14702039).Curated1
Sequence conflicti1082D → G in AAH39315 (PubMed:15489334).Curated1
Sequence conflicti1139E → G in BAF85100 (PubMed:14702039).Curated1
Sequence conflicti1182T → P in BAF85187 (PubMed:14702039).Curated1
Sequence conflicti1218D → G in AAH39315 (PubMed:15489334).Curated1

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_048648166V → A. Corresponds to variant dbSNP:rs16990981Ensembl.1
Natural variantiVAR_048649199R → G. Corresponds to variant dbSNP:rs3747203Ensembl.1
Natural variantiVAR_048650351T → A1 PublicationCorresponds to variant dbSNP:rs5764214Ensembl.1
Natural variantiVAR_048651384S → A. Corresponds to variant dbSNP:rs6006438Ensembl.1
Natural variantiVAR_048652400H → Y1 PublicationCorresponds to variant dbSNP:rs137794Ensembl.1
Natural variantiVAR_048653680T → A1 PublicationCorresponds to variant dbSNP:rs137731Ensembl.1
Natural variantiVAR_048654780D → N. Corresponds to variant dbSNP:rs12159591Ensembl.1
Natural variantiVAR_048655800R → W. Corresponds to variant dbSNP:rs6006514Ensembl.1
Natural variantiVAR_0486561059A → V3 PublicationsCorresponds to variant dbSNP:rs9614382Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0198081 – 1139Missing in isoform 4. 1 PublicationAdd BLAST1139
Alternative sequenceiVSP_0198091 – 931Missing in isoform 3. 2 PublicationsAdd BLAST931
Alternative sequenceiVSP_0198101 – 152Missing in isoform 2. 1 PublicationAdd BLAST152
Alternative sequenceiVSP_034831418 – 420KPD → VRF in isoform 6. Curated3
Alternative sequenceiVSP_034832421 – 1501Missing in isoform 6. CuratedAdd BLAST1081
Alternative sequenceiVSP_0198111140E → M in isoform 4. 1 Publication1
Alternative sequenceiVSP_0198121217 – 1249FDRLW…TAATP → VRNASQSSPCTPLAERQPGP WPECTEFKTVLYF in isoform 5. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_0198131250 – 1501Missing in isoform 5. 1 PublicationAdd BLAST252

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
AB073862 mRNA Translation: BAB71780.1
AK027241 mRNA Translation: BAB15703.1
AK292411 mRNA Translation: BAF85100.1
AK292498 mRNA Translation: BAF85187.1
AL355841 mRNA Translation: CAB91065.1
AL023801 Genomic DNA No translation available.
AL031843 Genomic DNA No translation available.
AL118498 Genomic DNA No translation available.
Z82201 Genomic DNA No translation available.
Z97055 Genomic DNA No translation available.
BC039315 mRNA Translation: AAH39315.1
AB051459 mRNA Translation: BAB33342.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14049.1 [Q5THR3-1]
CCDS14050.1 [Q5THR3-2]

NCBI Reference Sequences

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RefSeqi
NP_073622.2, NM_022785.3 [Q5THR3-1]
NP_942153.1, NM_198856.2 [Q5THR3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262726; ENSP00000262726; ENSG00000186976 [Q5THR3-1]
ENST00000396231; ENSP00000379533; ENSG00000186976 [Q5THR3-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64800

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64800

UCSC genome browser

More...
UCSCi
uc003bdy.3, human [Q5THR3-1]

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
AB073862 mRNA Translation: BAB71780.1
AK027241 mRNA Translation: BAB15703.1
AK292411 mRNA Translation: BAF85100.1
AK292498 mRNA Translation: BAF85187.1
AL355841 mRNA Translation: CAB91065.1
AL023801 Genomic DNA No translation available.
AL031843 Genomic DNA No translation available.
AL118498 Genomic DNA No translation available.
Z82201 Genomic DNA No translation available.
Z97055 Genomic DNA No translation available.
BC039315 mRNA Translation: AAH39315.1
AB051459 mRNA Translation: BAB33342.1
CCDSiCCDS14049.1 [Q5THR3-1]
CCDS14050.1 [Q5THR3-2]
RefSeqiNP_073622.2, NM_022785.3 [Q5THR3-1]
NP_942153.1, NM_198856.2 [Q5THR3-2]

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
1WLZX-ray1.60A/B/C/D1160-1260[»]
5D67X-ray2.00A/B/C/D1160-1260[»]
SMRiQ5THR3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi122306, 5 interactors
CORUMiQ5THR3
IntActiQ5THR3, 1 interactor
STRINGi9606.ENSP00000262726

PTM databases

iPTMnetiQ5THR3
PhosphoSitePlusiQ5THR3

Genetic variation databases

BioMutaiEFCAB6
DMDMi74756634

Proteomic databases

EPDiQ5THR3
MassIVEiQ5THR3
PaxDbiQ5THR3
PeptideAtlasiQ5THR3
PRIDEiQ5THR3
ProteomicsDBi65162 [Q5THR3-1]
65163 [Q5THR3-2]
65164 [Q5THR3-3]
65165 [Q5THR3-4]
65166 [Q5THR3-5]
65167 [Q5THR3-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
320, 27 antibodies

Genome annotation databases

EnsembliENST00000262726; ENSP00000262726; ENSG00000186976 [Q5THR3-1]
ENST00000396231; ENSP00000379533; ENSG00000186976 [Q5THR3-2]
GeneIDi64800
KEGGihsa:64800
UCSCiuc003bdy.3, human [Q5THR3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64800
DisGeNETi64800

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EFCAB6
HGNCiHGNC:24204, EFCAB6
HPAiENSG00000186976, Tissue enhanced (pituitary gland, testis)
neXtProtiNX_Q5THR3
OpenTargetsiENSG00000186976
PharmGKBiPA162384324
VEuPathDBiHostDB:ENSG00000186976.14

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0027, Eukaryota
GeneTreeiENSGT00390000013629
HOGENOMiCLU_004260_0_0_1
InParanoidiQ5THR3
OMAiIHWKYFL
OrthoDBi193070at2759
PhylomeDBiQ5THR3
TreeFamiTF329179

Enzyme and pathway databases

PathwayCommonsiQ5THR3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
64800, 1 hit in 878 CRISPR screens

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

More...
ChiTaRSi
EFCAB6, human
EvolutionaryTraceiQ5THR3

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EFCAB6

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

More...
GenomeRNAii
64800
PharosiQ5THR3, Tdark

Protein Ontology

More...
PROi
PR:Q5THR3
RNActiQ5THR3, protein

Gene expression databases

BgeeiENSG00000186976, Expressed in right testis and 148 other tissues
ExpressionAtlasiQ5THR3, baseline and differential
GenevisibleiQ5THR3, HS

Family and domain databases

InterProiView protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR015070, EF_hand_DJBP
IPR002048, EF_hand_dom
PfamiView protein in Pfam
PF08976, EF-hand_11, 2 hits
PF13499, EF-hand_7, 1 hit
PF13833, EF-hand_8, 1 hit
SMARTiView protein in SMART
SM00054, EFh, 12 hits
SUPFAMiSSF47473, SSF47473, 7 hits
PROSITEiView protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 17 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiEFCB6_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: Q5THR3
Secondary accession number(s): A8K8P6
, A8K8Y3, B0QYI4, B0QYI6, Q5U5T6, Q9BY88, Q9H5C4, Q9NSF5
<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: July 11, 2006
Last sequence update: December 21, 2004
Last modified: February 10, 2021
This is version 141 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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