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UniProtKB - A4FU69 (EFCB5_HUMAN)

Entry version 108 (12 Aug 2020)
Sequence version 3 (31 Oct 2012)
Previous versions | rss
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Protein

EF-hand calcium-binding domain-containing protein 5

Gene

EFCAB5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation 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>-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

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 bindingi882 – 893PROSITE-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

Complete GO annotation on QuickGO ...

<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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		A4FU69

<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 5
<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:EFCAB5
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000176927.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:24801, EFCAB5

neXtProt; the human protein knowledge platform

More...neXtProti		NX_A4FU69

<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		374786

Open Targets

More...OpenTargetsi		ENSG00000176927

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA145008457

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		A4FU69, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EFCAB5

<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_00003158361 – 1503EF-hand calcium-binding domain-containing protein 5Add BLAST1503

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 residuei77PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		A4FU69

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		A4FU69

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

More...PaxDbi		A4FU69

PeptideAtlas

More...PeptideAtlasi		A4FU69

PRoteomics IDEntifications database

More...PRIDEi		A4FU69

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		24772
5619
669 [A4FU69-1]
670 [A4FU69-2]
671 [A4FU69-3]
672 [A4FU69-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		A4FU69

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

More...PhosphoSitePlusi		A4FU69

<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		ENSG00000176927, Expressed in testis and 117 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		A4FU69, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		A4FU69, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000176927, Tissue enhanced (blood, 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		131921, 4 interactors

Protein interaction database and analysis system

More...IntActi		A4FU69, 3 interactors

Molecular INTeraction database

More...MINTi		A4FU69

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000378312

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		A4FU69, protein

<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>Domaini869 – 904EF-handPROSITE-ProRule annotationAdd BLAST36

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502R5M0, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154049

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006376_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		A4FU69

Identification of Orthologs from Complete Genome Data

More...OMAi		LKHLCHC

Database of Orthologous Groups

More...OrthoDBi		1482025at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		A4FU69

TreeFam database of animal gene trees

More...TreeFami		TF329659

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.450.40, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR029016, GAF-like_dom_sf

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

<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A4FU69-1) [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
MNESASQEEL RPAQENRKED KERKWNLTEV KELHETLQSV PDVPVKEDTN 
        60         70         80         90        100
SVVEKAMDEI KSQELNLEGQ RKISPGSIKD SKTEASGNIA IRKSAKVIFA 
       110        120        130        140        150
LDETELKSKP EHTWKKNLFE RMEARAQAMQ QKIIDKENLK KELEKKAEKK 
       160        170        180        190        200
LPRDNLAKEW FNTDSMTLNN TAYLLDKLLP TLVPGVENML TQVEKKKVLT 
       210        220        230        240        250
EADTPSKFDP INYLGEYLIR NNPNYIKDPG MSGYQRLMKE VTEDLKIYVP 
       260        270        280        290        300
DTICNRVSKM KENVKQNRKQ RESIDKIIVK VANTRKQALQ EQFDEWILDP 
       310        320        330        340        350
KGMIPKSVIQ NVLQEFFQNP DFKLGSHCKQ LDITDSTEPR LNKMEFTEYI 
       360        370        380        390        400
SSHIKDLKSE MFEELLKHLC HSADEFREVI KADMRRQMFA ELFLHCDHGK 
       410        420        430        440        450
VGFLDRQRTL ALLELFYDHS SQMLRSLLRN PRQWPFIEFE EINLTELWGD 
       460        470        480        490        500
MDNQKHIYEG FDKVLLEMNT LLSANHASKT QSKLLESPDQ PKLNEQRTST 
       510        520        530        540        550
PSPNPPEQQR GVTAEQGPQR ISIEEQQQGK KPTAEQELYI ESVIEPGTHT 
       560        570        580        590        600
ESTLEQGSSR RLLTEQETHR ESTTEQGQHK GSIEGQGPRR VSVSEQGSSR 
       610        620        630        640        650
ESVAEQGSRR ESIAEQDRHK GSVAEQGSRR MSAAEQGSLR ESVIEEPYQK 
       660        670        680        690        700
SEQGPYGEII SEEQEDIGST SQSRKDSILK STKYGEPITS EYIEVPLQEK 
       710        720        730        740        750
RSWEQTYEEE IFLSSELQEE VPTLSRKDHF PETTKKEVQK DKPCEPKSQK 
       760        770        780        790        800
IEGKSWSGEF FTCNWKMKYV TFEDEEQANL IYGNSRFTDL HSIIRNIQSC 
       810        820        830        840        850
KEVKGRTAFN GVSFNLLQFV QLLETFVGED APLSVSETLT SFFKEGYVET 
       860        870        880        890        900
EQEKMNALEQ FSQNAFQVRQ RLLLEAIFQK WDSDGSGFLD LKEVDELLYT 
       910        920        930        940        950
YKEGMEKESM KKAKLHIQFP KPHPGHEVRL SSKQFQNYIE LVVSELRGNE 
       960        970        980        990       1000
DQVLESVVEF LMNALERSHI ESLRNSARRK WLHQIQCAAE TSGVSLEPVY 
      1010       1020       1030       1040       1050
SETFKALMQD AEAHGNKKIS AHISLLEENL LLPEKGNVLL RNVACTLDDA 
      1060       1070       1080       1090       1100
QFVLNRVLYR DMKGISFTVV DEGKPIHVPQ VQYHGNIFFW NQSRNKHDYN 
      1110       1120       1130       1140       1150
GSFLALPLQD AYMRIFGVLA VDTLRDPHEI NIFLPHEIRF YQGVANVFST 
      1160       1170       1180       1190       1200
AYHYVHSREH ILHIVITGIG WLYDVTSSIT SITTYFVEPS PAQDSDYVLR 
      1210       1220       1230       1240       1250
NMMVTGQLGL TEIHKNPPTI HRKSCIFRDF LFKCTDSSEV VLASACGETH 
      1260       1270       1280       1290       1300
IVVPLRERTG EALGVLDFNI GQNRMLLCQE YKDLQKMMKV VQVACYEILG 
      1310       1320       1330       1340       1350
EFSGEIKKKY ILEIENVREV QRAGILFFRI MLLELQESIQ LLNSMEFVSL 
      1360       1370       1380       1390       1400
LLYDHTLVTE PNSPQDSKSM ELEANVKLVR DILKAVILFF HPELEFSSDF 
      1410       1420       1430       1440       1450
GSWDKCKFYV NKYLVNNICA FDPTAKHVEV NVQLIDEYIR DHSRTEVWKF 
      1460       1470       1480       1490       1500
GNVVIEHLYH WIHICSALMK ITKQLNSGIT PPLPSKTDNY MYAKMPGEGL 

QEK
Length:1,503
Mass (Da):173,404
Last modified:October 31, 2012 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i907EED07E7C17EB7
GO
Isoform 2 (identifier: A4FU69-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     913-926: AKLHIQFPKPHPGH → GLTLSPGWSAVAQL
     927-1503: Missing.

Show »
Length:926
Mass (Da):106,855
Checksum:iD0DEE537B4107202
GO
Isoform 3 (identifier: A4FU69-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     789-912: Missing.

Show »
Length:1,379
Mass (Da):159,092
Checksum:i850C9B1375349299
GO
Isoform 4 (identifier: A4FU69-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     913-1440: Missing.

Show »
Length:975
Mass (Da):112,739
Checksum:iB5845D5FA67F2A4D
GO
Isoform 5 (identifier: A4FU69-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     861-912: FSQNAFQVRQ...EGMEKESMKK → VSLCRQAGVQ...KFFPLETKFP
     913-1503: Missing.

Show »
Length:856
Mass (Da):98,992
Checksum:i5D6CC2569FB167D7
GO
Isoform 6 (identifier: A4FU69-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-343: Missing.
     861-912: FSQNAFQVRQ...EGMEKESMKK → VSLCRQAGVQ...KFFPLETKFP
     913-1503: Missing.

Show »
Length:569
Mass (Da):65,755
Checksum:i01E296A46B3AA225
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
K7EJC3K7EJC3_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB5
774Annotation 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>
H0Y843H0Y843_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB5
1,185Annotation 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>
C9J1E6C9J1E6_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB5
103Annotation 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>
H0Y4M1H0Y4M1_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB5
56Annotation 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 BAC87284 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti324L → P in BX648689 (PubMed:14702039).Curated1
Sequence conflicti374D → E in BX648689 (PubMed:14702039).Curated1
Sequence conflicti429R → Q in BAC87284 (PubMed:15489334).Curated1
Sequence conflicti962M → I in BAC87284 (PubMed:15489334).Curated1
Sequence conflicti1386V → G in CAD38767 (PubMed:14702039).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_038343237L → V1 PublicationCorresponds to variant dbSNP:rs9897794Ensembl.1
Natural variantiVAR_038344278I → K3 PublicationsCorresponds to variant dbSNP:rs4795524Ensembl.1
Natural variantiVAR_038345561R → S. Corresponds to variant dbSNP:rs9900546Ensembl.1
Natural variantiVAR_0486441145A → D. Corresponds to variant dbSNP:rs9894896Ensembl.1
Natural variantiVAR_0486451252V → A. Corresponds to variant dbSNP:rs4499292Ensembl.1
Natural variantiVAR_0486461274R → T. Corresponds to variant dbSNP:rs35724168Ensembl.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_0555101 – 343Missing in isoform 6. 1 PublicationAdd BLAST343
Alternative sequenceiVSP_0471841 – 56Missing in isoform 5. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_030732789 – 912Missing in isoform 3. 1 PublicationAdd BLAST124
Alternative sequenceiVSP_047185861 – 912FSQNA…ESMKK → VSLCRQAGVQWRNCSSLQPP TPGLKRSSHHRLLSNWDYRE RRKFFPLETKFP in isoform 5 and isoform 6. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_047186913 – 1503Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST591
Alternative sequenceiVSP_030733913 – 1440Missing in isoform 4. 1 PublicationAdd BLAST528
Alternative sequenceiVSP_030734913 – 926AKLHI…PHPGH → GLTLSPGWSAVAQL in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_030735927 – 1503Missing in isoform 2. 1 PublicationAdd BLAST577

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK128126 mRNA Translation: BAC87284.1 Different initiation.
AK299608 mRNA Translation: BAG61537.1
AK303060 mRNA Translation: BAG64177.1
BX648689 mRNA No translation available.
AL833911 mRNA Translation: CAD38767.1
AC104982 Genomic DNA No translation available.
AC104984 Genomic DNA No translation available.
AC104996 Genomic DNA No translation available.
BC110608 mRNA Translation: AAI10609.1
BC110609 mRNA Translation: AAI10610.1
BC119807 mRNA Translation: AAI19808.1
BC137519 mRNA Translation: AAI37520.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11254.2 [A4FU69-1]
CCDS54103.1 [A4FU69-5]

NCBI Reference Sequences

More...RefSeqi		NP_001138525.1, NM_001145053.1 [A4FU69-5]
NP_940931.2, NM_198529.3 [A4FU69-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000394835; ENSP00000378312; ENSG00000176927 [A4FU69-1]
ENST00000440741; ENSP00000393095; ENSG00000176927 [A4FU69-2]
ENST00000536908; ENSP00000440619; ENSG00000176927 [A4FU69-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		374786

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:374786

UCSC genome browser

More...UCSCi		uc002het.3, human [A4FU69-1]

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
AK128126 mRNA Translation: BAC87284.1 Different initiation.
AK299608 mRNA Translation: BAG61537.1
AK303060 mRNA Translation: BAG64177.1
BX648689 mRNA No translation available.
AL833911 mRNA Translation: CAD38767.1
AC104982 Genomic DNA No translation available.
AC104984 Genomic DNA No translation available.
AC104996 Genomic DNA No translation available.
BC110608 mRNA Translation: AAI10609.1
BC110609 mRNA Translation: AAI10610.1
BC119807 mRNA Translation: AAI19808.1
BC137519 mRNA Translation: AAI37520.1
CCDSiCCDS11254.2 [A4FU69-1]
CCDS54103.1 [A4FU69-5]
RefSeqiNP_001138525.1, NM_001145053.1 [A4FU69-5]
NP_940931.2, NM_198529.3 [A4FU69-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi131921, 4 interactors
IntActiA4FU69, 3 interactors
MINTiA4FU69
STRINGi9606.ENSP00000378312

PTM databases

iPTMnetiA4FU69
PhosphoSitePlusiA4FU69

Polymorphism and mutation databases

BioMutaiEFCAB5

Proteomic databases

EPDiA4FU69
MassIVEiA4FU69
PaxDbiA4FU69
PeptideAtlasiA4FU69
PRIDEiA4FU69
ProteomicsDBi24772
5619
669 [A4FU69-1]
670 [A4FU69-2]
671 [A4FU69-3]
672 [A4FU69-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		15071, 34 antibodies

Genome annotation databases

EnsembliENST00000394835; ENSP00000378312; ENSG00000176927 [A4FU69-1]
ENST00000440741; ENSP00000393095; ENSG00000176927 [A4FU69-2]
ENST00000536908; ENSP00000440619; ENSG00000176927 [A4FU69-5]
GeneIDi374786
KEGGihsa:374786
UCSCiuc002het.3, human [A4FU69-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		374786
DisGeNETi374786
EuPathDBiHostDB:ENSG00000176927.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		EFCAB5
HGNCiHGNC:24801, EFCAB5
HPAiENSG00000176927, Tissue enhanced (blood, testis)
neXtProtiNX_A4FU69
OpenTargetsiENSG00000176927
PharmGKBiPA145008457

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502R5M0, Eukaryota
GeneTreeiENSGT00940000154049
HOGENOMiCLU_006376_0_0_1
InParanoidiA4FU69
OMAiLKHLCHC
OrthoDBi1482025at2759
PhylomeDBiA4FU69
TreeFamiTF329659

Enzyme and pathway databases

PathwayCommonsiA4FU69

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		374786, 5 hits in 872 CRISPR screens

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

More...ChiTaRSi		EFCAB5, human

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

More...GenomeRNAii		374786
PharosiA4FU69, Tdark

Protein Ontology

More...PROi		PR:A4FU69
RNActiA4FU69, protein

Gene expression databases

BgeeiENSG00000176927, Expressed in testis and 117 other tissues
ExpressionAtlasiA4FU69, baseline and differential
GenevisibleiA4FU69, HS

Family and domain databases

Gene3Di3.30.450.40, 1 hit
InterProiView protein in InterPro
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR029016, GAF-like_dom_sf
PROSITEiView protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 1 hit

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 nameiEFCB5_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: A4FU69
Secondary accession number(s): B2RPN0
, B4DS75, B4DZR5, F5GYL2, Q0VD68, Q6ZRM6, Q8NDG9
<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: January 15, 2008
Last sequence update: October 31, 2012
Last modified: August 12, 2020
This is version 108 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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