UniProtKB - Q9BUY7 (EFC11_HUMAN)
Protein
EF-hand calcium-binding domain-containing protein 11
Gene
EFCAB11
Organism
Homo sapiens (Human)
Status
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
Keywordsi
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9BUY7 |
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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20357, EFCAB11 |
neXtProti | NX_Q9BUY7 |
VEuPathDBi | HostDB:ENSG00000140025.15 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 90141 |
OpenTargetsi | ENSG00000140025 |
PharmGKBi | PA134875422 |
Miscellaneous databases
Pharosi | Q9BUY7, Tdark |
Genetic variation 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
MassIVEi | Q9BUY7 |
MaxQBi | Q9BUY7 |
PaxDbi | Q9BUY7 |
PeptideAtlasi | Q9BUY7 |
PRIDEi | Q9BUY7 |
ProteomicsDBi | 33518 6693 79144 [Q9BUY7-1] 79145 [Q9BUY7-2] 79146 [Q9BUY7-3] 79147 [Q9BUY7-4] |
PTM databases
iPTMneti | Q9BUY7 |
PhosphoSitePlusi | Q9BUY7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000140025, Expressed in sperm and 208 other tissues |
ExpressionAtlasi | Q9BUY7, baseline and differential |
Genevisiblei | Q9BUY7, HS |
Organism-specific databases
HPAi | ENSG00000140025, Tissue enhanced (testis) |
Interactioni
Binary interactionsi
Hide detailsQ9BUY7
With | #Exp. | IntAct |
---|---|---|
AKR1B1 [P15121] | 3 | EBI-18688654,EBI-1052491 |
MSRA [Q9UJ68] | 3 | EBI-18688654,EBI-19157918 |
Protein-protein interaction databases
BioGRIDi | 124670, 12 interactors |
IntActi | Q9BUY7, 3 interactors |
STRINGi | 9606.ENSP00000326267 |
Miscellaneous databases
RNActi | Q9BUY7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | 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
RepeatPhylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00390000004917 |
HOGENOMi | CLU_061288_22_2_1 |
InParanoidi | Q9BUY7 |
OMAi | VHYRGYL |
OrthoDBi | 1435392at2759 |
PhylomeDBi | Q9BUY7 |
TreeFami | TF329255 |
Family and domain databases
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 |
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 |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BUY7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Isoform 4 (identifier: Q9BUY7-4) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
58-61: IEVD → KWIL
62-163: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YJX4 | H0YJX4_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB11 | 117 | Annotation score: |
Sequence cautioni
The sequence CAD62325 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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 |
CCDSi | CCDS61522.1 [Q9BUY7-6] CCDS61523.1 [Q9BUY7-2] CCDS61524.1 [Q9BUY7-3] CCDS61525.1 [Q9BUY7-5] CCDS9887.1 [Q9BUY7-1] |
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] |
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 |
UCSCi | uc001xxs.5, human [Q9BUY7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS61522.1 [Q9BUY7-6] CCDS61523.1 [Q9BUY7-2] CCDS61524.1 [Q9BUY7-3] CCDS61525.1 [Q9BUY7-5] CCDS9887.1 [Q9BUY7-1] |
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] |
3D structure databases
SMRi | Q9BUY7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124670, 12 interactors |
IntActi | Q9BUY7, 3 interactors |
STRINGi | 9606.ENSP00000326267 |
PTM databases
iPTMneti | Q9BUY7 |
PhosphoSitePlusi | Q9BUY7 |
Genetic variation databases
BioMutai | EFCAB11 |
DMDMi | 74762709 |
Proteomic databases
MassIVEi | Q9BUY7 |
MaxQBi | Q9BUY7 |
PaxDbi | Q9BUY7 |
PeptideAtlasi | Q9BUY7 |
PRIDEi | Q9BUY7 |
ProteomicsDBi | 33518 6693 79144 [Q9BUY7-1] 79145 [Q9BUY7-2] 79146 [Q9BUY7-3] 79147 [Q9BUY7-4] |
Protocols and materials databases
Antibodypediai | 65215, 15 antibodies |
DNASUi | 90141 |
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 |
UCSCi | uc001xxs.5, human [Q9BUY7-1] |
Organism-specific databases
CTDi | 90141 |
DisGeNETi | 90141 |
GeneCardsi | EFCAB11 |
HGNCi | HGNC:20357, EFCAB11 |
HPAi | ENSG00000140025, Tissue enhanced (testis) |
neXtProti | NX_Q9BUY7 |
OpenTargetsi | ENSG00000140025 |
PharmGKBi | PA134875422 |
VEuPathDBi | HostDB:ENSG00000140025.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00390000004917 |
HOGENOMi | CLU_061288_22_2_1 |
InParanoidi | Q9BUY7 |
OMAi | VHYRGYL |
OrthoDBi | 1435392at2759 |
PhylomeDBi | Q9BUY7 |
TreeFami | TF329255 |
Enzyme and pathway databases
PathwayCommonsi | Q9BUY7 |
Miscellaneous databases
BioGRID-ORCSi | 90141, 1 hit in 876 CRISPR screens |
ChiTaRSi | EFCAB11, human |
GenomeRNAii | 90141 |
Pharosi | Q9BUY7, Tdark |
PROi | PR:Q9BUY7 |
RNActi | Q9BUY7, protein |
Gene expression databases
Bgeei | ENSG00000140025, Expressed in sperm and 208 other tissues |
ExpressionAtlasi | Q9BUY7, baseline and differential |
Genevisiblei | Q9BUY7, HS |
Family and domain databases
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 |
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... |
MobiDBi | Search... |
Entry informationi
Entry namei | EFC11_HUMAN | |
Accessioni | Q9BUY7Primary (citable) accession number: Q9BUY7 Secondary accession number(s): B3KT10 Q8NDQ1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | June 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 146 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
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports