EFCAB11

Functionⁱ

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Calcium bindingⁱ	140 – 151	1PROSITE-ProRule annotationAdd BLAST		12

GO - Molecular functionⁱ

calcium ion binding Source: GO_Central

Complete GO annotation...

Keywordsⁱ

Ligand	Calcium, Metal-binding

Ligand

Calcium, Metal-binding

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: EF-hand calcium-binding domain-containing protein 11
Gene namesⁱ	Name:EFCAB11 Synonyms:C14orf143
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:20357. EFCAB11.

HGNCⁱ

HGNC:20357. EFCAB11.

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	90141.
Open Targets More...OpenTargetsⁱ	ENSG00000140025.
PharmGKBⁱ	PA134875422.

Polymorphism and mutation databases

BioMutaⁱ	EFCAB11.
DMDMⁱ	74762709.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000286580	1 – 163	EF-hand calcium-binding domain-containing protein 11Add BLAST		163

Proteomic databases

EPDⁱ	Q9BUY7.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BUY7.
PaxDbⁱ	Q9BUY7.
PeptideAtlas More...PeptideAtlasⁱ	Q9BUY7.
PRIDEⁱ	Q9BUY7.

PTM databases

iPTMnetⁱ	Q9BUY7.
PhosphoSitePlusⁱ	Q9BUY7.

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000140025.
CleanExⁱ	HS_C14orf143.
ExpressionAtlasⁱ	Q9BUY7. baseline and differential.
Genevisibleⁱ	Q9BUY7. HS.

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA051209.

HPAⁱ

HPA051209.

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	124670. 3 interactors.
STRINGⁱ	9606.ENSP00000326267.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9BUY7.
SMRⁱ	Q9BUY7.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	18 – 53	EF-hand 1PROSITE-ProRule annotationAdd BLAST	36
Domainⁱ	91 – 126	EF-hand 2PROSITE-ProRule annotationAdd BLAST	36
Domainⁱ	127 – 162	EF-hand 3PROSITE-ProRule annotationAdd BLAST	36

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	KOG0027. Eukaryota. COG5126. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000004917.
HOGENOMⁱ	HOG000007716.
HOVERGENⁱ	HBG106107.
InParanoidⁱ	Q9BUY7.
OMAⁱ	FKQVAPK.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0S7R.
PhylomeDBⁱ	Q9BUY7.
TreeFamⁱ	TF329255.

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00051. EFh. 1 hit.
InterProⁱ	View protein in InterPro IPR011992. EF-hand-dom_pair. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF13499. EF-hand_7. 1 hit. PF13833. EF-hand_8. 1 hit.
SMARTⁱ	View protein in SMART SM00054. EFh. 3 hits.
SUPFAMⁱ	SSF47473. SSF47473. 1 hit.
PROSITEⁱ	View protein in PROSITE PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 3 hits.

Sequences (6)ⁱ

Sequence statusⁱ: Complete.

This entry describes 6 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q9BUY7-1) [UniParc]FASTA Add 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
MFFSEARARS RTWEASPSEH RKWVEVFKAC DEDHKGYLSR EDFKTAVVML 
        60         70         80         90        100
FGYKPSKIEV DSVMSSINPN TSGILLEGFL NIVRKKKEAQ RYRNEVRHIF 
       110        120        130        140        150
TAFDTYYRGF LTLEDFKKAF RQVAPKLPER TVLEVFREVD RDSDGHVSFR 
       160 
DFEYALNYGQ KEA

Length:163

Mass (Da):19,225

Last modified:June 1, 2001 - v1

Checksum:ⁱ0939E2C3637707C2

GO

Isoform 2 (identifier: Q9BUY7-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-25: MFFSEARARSRTWEASPSEHRKWVE → M

« Hide

        10         20         30         40         50
MVFKACDEDH KGYLSREDFK TAVVMLFGYK PSKIEVDSVM SSINPNTSGI 
        60         70         80         90        100
LLEGFLNIVR KKKEAQRYRN EVRHIFTAFD TYYRGFLTLE DFKKAFRQVA 
       110        120        130 
PKLPERTVLE VFREVDRDSD GHVSFRDFEY ALNYGQKEA

Show »

Length:139

Mass (Da):16,293

Checksum:ⁱ64409983F8203C5C

GO

Isoform 3 (identifier: Q9BUY7-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-25: MFFSEARARSRTWEASPSEHRKWVE → M
138-163: EVDRDSDGHVSFRDFEYALNYGQKEA → GIFSA

« Hide

        10         20         30         40         50
MVFKACDEDH KGYLSREDFK TAVVMLFGYK PSKIEVDSVM SSINPNTSGI 
        60         70         80         90        100
LLEGFLNIVR KKKEAQRYRN EVRHIFTAFD TYYRGFLTLE DFKKAFRQVA 
       110 
PKLPERTVLE VFRGIFSA

Show »

Length:118

Mass (Da):13,738

Checksum:ⁱ57DC52C7AF59755E

GO

Isoform 4 (identifier: Q9BUY7-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
58-61: IEVD → KWIL
62-163: Missing.

« Hide

        10         20         30         40         50
MFFSEARARS RTWEASPSEH RKWVEVFKAC DEDHKGYLSR EDFKTAVVML 
        60 
FGYKPSKKWI L

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.

Show »

Length:61

Mass (Da):7,314

Checksum:ⁱ1FEE78F6847D687C

GO

Isoform 5 (identifier: Q9BUY7-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
138-162: EVDRDSDGHVSFRDFEYALNYGQKE → GIFS

« Hide

        10         20         30         40         50
MFFSEARARS RTWEASPSEH RKWVEVFKAC DEDHKGYLSR EDFKTAVVML 
        60         70         80         90        100
FGYKPSKIEV DSVMSSINPN TSGILLEGFL NIVRKKKEAQ RYRNEVRHIF 
       110        120        130        140 
TAFDTYYRGF LTLEDFKKAF RQVAPKLPER TVLEVFRGIF SA

Note: No experimental confirmation available.

Show »

Length:142

Mass (Da):16,670

Checksum:ⁱF5C8B3BC5BACAF96

GO

Isoform 6 (identifier: Q9BUY7-6) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-48: Missing.

« Hide

        10         20         30         40         50
MLFGYKPSKI EVDSVMSSIN PNTSGILLEG FLNIVRKKKE AQRYRNEVRH 
        60         70         80         90        100
IFTAFDTYYR GFLTLEDFKK AFRQVAPKLP ERTVLEVFRE VDRDSDGHVS 
       110 
FRDFEYALNY GQKEA

Note: Gene prediction based on EST data.

Show »

Length:115

Mass (Da):13,521

Checksum:ⁱ0B6B6CF1041319F1

GO

Sequence cautionⁱ

The sequence CAD62325 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_032129	15	A → V. Corresponds to variant dbSNP:rs35435801Ensembl.	1
Natural variantⁱVAR_032130	31	D → G. Corresponds to variant dbSNP:rs34486581Ensembl.	1
Natural variantⁱVAR_032131	45	T → A. Corresponds to variant dbSNP:rs34911716Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_055729	1 – 48	Missing in isoform 6. CuratedAdd BLAST	48
Alternative sequenceⁱVSP_025100	1 – 25	MFFSE…RKWVE → M in isoform 2 and isoform 3. 2 PublicationsAdd BLAST	25
Alternative sequenceⁱVSP_041089	58 – 61	IEVD → KWIL in isoform 4. 1 Publication	4
Alternative sequenceⁱVSP_041090	62 – 163	Missing in isoform 4. 1 PublicationAdd BLAST	102
Alternative sequenceⁱVSP_025101	138 – 163	EVDRD…GQKEA → GIFSA in isoform 3. 1 PublicationAdd BLAST	26
Alternative sequenceⁱVSP_054591	138 – 162	EVDRD…YGQKE → GIFS in isoform 5. 1 PublicationAdd BLAST	25

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	BX161414 mRNA. Translation: CAD61889.1. BX247991 mRNA. Translation: CAD62325.1. Sequence problems. AK094740 mRNA. Translation: BAG52922.1. AK298930 mRNA. Translation: BAH12905.1. AL832321 mRNA. Translation: CAD38616.1. AL137128 Genomic DNA. No translation available. AL137230 Genomic DNA. No translation available. AL163011 Genomic DNA. No translation available. CH471061 Genomic DNA. Translation: EAW81411.1. BC001787 mRNA. Translation: AAH01787.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS61522.1. [Q9BUY7-6] CCDS61523.1. [Q9BUY7-2] CCDS61524.1. [Q9BUY7-3] CCDS61525.1. [Q9BUY7-5] CCDS9887.1. [Q9BUY7-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001271195.1. NM_001284266.1. [Q9BUY7-5] NP_001271196.1. NM_001284267.1. [Q9BUY7-6] NP_001271197.1. NM_001284268.1. [Q9BUY7-3] NP_001271198.1. NM_001284269.1. [Q9BUY7-2] NP_660274.1. NM_145231.3. [Q9BUY7-1]
UniGeneⁱ	Hs.123232.

Genome annotation databases

Ensemblⁱ	ENST00000316738; ENSP00000326267; ENSG00000140025. [Q9BUY7-1] ENST00000538485; ENSP00000438072; ENSG00000140025. [Q9BUY7-5] ENST00000555872; ENSP00000452320; ENSG00000140025. [Q9BUY7-2] ENST00000556005; ENSP00000452143; ENSG00000140025. [Q9BUY7-3] ENST00000556609; ENSP00000452335; ENSG00000140025. [Q9BUY7-6] ENST00000556639; ENSP00000452397; ENSG00000140025. [Q9BUY7-4]
GeneIDⁱ	90141.
KEGGⁱ	hsa:90141.
UCSC genome browser More...UCSCⁱ	uc001xxs.5. human. [Q9BUY7-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	BX161414 mRNA. Translation: CAD61889.1. BX247991 mRNA. Translation: CAD62325.1. Sequence problems. AK094740 mRNA. Translation: BAG52922.1. AK298930 mRNA. Translation: BAH12905.1. AL832321 mRNA. Translation: CAD38616.1. AL137128 Genomic DNA. No translation available. AL137230 Genomic DNA. No translation available. AL163011 Genomic DNA. No translation available. CH471061 Genomic DNA. Translation: EAW81411.1. BC001787 mRNA. Translation: AAH01787.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS61522.1. [Q9BUY7-6] CCDS61523.1. [Q9BUY7-2] CCDS61524.1. [Q9BUY7-3] CCDS61525.1. [Q9BUY7-5] CCDS9887.1. [Q9BUY7-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001271195.1. NM_001284266.1. [Q9BUY7-5] NP_001271196.1. NM_001284267.1. [Q9BUY7-6] NP_001271197.1. NM_001284268.1. [Q9BUY7-3] NP_001271198.1. NM_001284269.1. [Q9BUY7-2] NP_660274.1. NM_145231.3. [Q9BUY7-1]
UniGeneⁱ	Hs.123232.

3D structure databases

ProteinModelPortalⁱ	Q9BUY7.
SMRⁱ	Q9BUY7.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	124670. 3 interactors.
STRINGⁱ	9606.ENSP00000326267.

PTM databases

iPTMnetⁱ	Q9BUY7.
PhosphoSitePlusⁱ	Q9BUY7.

Polymorphism and mutation databases

BioMutaⁱ	EFCAB11.
DMDMⁱ	74762709.

Proteomic databases

EPDⁱ	Q9BUY7.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BUY7.
PaxDbⁱ	Q9BUY7.
PeptideAtlas More...PeptideAtlasⁱ	Q9BUY7.
PRIDEⁱ	Q9BUY7.

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	90141.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000316738; ENSP00000326267; ENSG00000140025. [Q9BUY7-1] ENST00000538485; ENSP00000438072; ENSG00000140025. [Q9BUY7-5] ENST00000555872; ENSP00000452320; ENSG00000140025. [Q9BUY7-2] ENST00000556005; ENSP00000452143; ENSG00000140025. [Q9BUY7-3] ENST00000556609; ENSP00000452335; ENSG00000140025. [Q9BUY7-6] ENST00000556639; ENSP00000452397; ENSG00000140025. [Q9BUY7-4]
GeneIDⁱ	90141.
KEGGⁱ	hsa:90141.
UCSC genome browser More...UCSCⁱ	uc001xxs.5. human. [Q9BUY7-1]

Organism-specific databases

CTDⁱ	90141.
DisGeNET More...DisGeNETⁱ	90141.
GeneCardsⁱ	EFCAB11.
H-InvDBⁱ	HIX0011878.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:20357. EFCAB11.
Human Protein Atlas More...HPAⁱ	HPA051209.
neXtProtⁱ	NX_Q9BUY7.
Open Targets More...OpenTargetsⁱ	ENSG00000140025.
PharmGKBⁱ	PA134875422.
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0027. Eukaryota. COG5126. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000004917.
HOGENOMⁱ	HOG000007716.
HOVERGENⁱ	HBG106107.
InParanoidⁱ	Q9BUY7.
OMAⁱ	FKQVAPK.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0S7R.
PhylomeDBⁱ	Q9BUY7.
TreeFamⁱ	TF329255.

Miscellaneous databases

ChiTaRSⁱ	EFCAB11. human.
GenomeRNAiⁱ	90141.
Protein Ontology More...PROⁱ	PR:Q9BUY7.

Gene expression databases

Bgeeⁱ	ENSG00000140025.
CleanExⁱ	HS_C14orf143.
ExpressionAtlasⁱ	Q9BUY7. baseline and differential.
Genevisibleⁱ	Q9BUY7. HS.

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00051. EFh. 1 hit.
InterProⁱ	View protein in InterPro IPR011992. EF-hand-dom_pair. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF13499. EF-hand_7. 1 hit. PF13833. EF-hand_8. 1 hit.
SMARTⁱ	View protein in SMART SM00054. EFh. 3 hits.
SUPFAMⁱ	SSF47473. SSF47473. 1 hit.
PROSITEⁱ	View protein in PROSITE PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 3 hits.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	EFC11_HUMAN
Accessionⁱ	Q9BUY7Primary (citable) accession number: Q9BUY7 Secondary accession number(s): B3KT10 , B7Z5G9, G3V5G1, Q86T09, Q86TV7, Q8NDQ1
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
	Last sequence update:	June 1, 2001
	Last modified:	May 10, 2017
	This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9BUY7 (EFC11_HUMAN)

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EF-hand calcium-binding domain-containing protein 11

Select a section on the left to see content.

<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

<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>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

Organism-specific databases

<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

Polymorphism and mutation databases

<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

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

<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

<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

Phylogenomic databases

Family and domain databases

<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 length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6)i

<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

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

Functionⁱ

GO - Molecular functionⁱ

Names & Taxonomyⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequences (6)ⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ