UniProtKB - O75071 (EFC14_HUMAN)
Protein
EF-hand calcium-binding domain-containing protein 14
Gene
EFCAB14
Organism
Homo sapiens (Human)
Status
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 477 – 489 | PROSITE-ProRule annotationAdd BLAST | 13 |
GO - Molecular functioni
- calcium ion binding Source: InterPro
Keywordsi
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | O75071 |
Names & Taxonomyi
Protein namesi | Recommended name: EF-hand calcium-binding domain-containing protein 14 |
Gene namesi | Name:EFCAB14 Synonyms:KIAA0494 |
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:29051, EFCAB14 |
neXtProti | NX_O75071 |
VEuPathDBi | HostDB:ENSG00000159658.10 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 9813 |
OpenTargetsi | ENSG00000159658 |
PharmGKBi | PA142671630 |
Miscellaneous databases
Pharosi | O75071, Tdark |
Genetic variation databases
BioMutai | EFCAB14 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073882 | 1 – 495 | EF-hand calcium-binding domain-containing protein 14Add BLAST | 495 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 17 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O75071 |
jPOSTi | O75071 |
MassIVEi | O75071 |
MaxQBi | O75071 |
PaxDbi | O75071 |
PeptideAtlasi | O75071 |
PRIDEi | O75071 |
ProteomicsDBi | 49737 |
PTM databases
CarbonylDBi | O75071 |
GlyConnecti | 1198, 1 N-Linked glycan (1 site) |
GlyGeni | O75071, 5 sites |
iPTMneti | O75071 |
PhosphoSitePlusi | O75071 |
SwissPalmi | O75071 |
Expressioni
Gene expression databases
Bgeei | ENSG00000159658, Expressed in globus pallidus and 265 other tissues |
ExpressionAtlasi | O75071, baseline and differential |
Genevisiblei | O75071, HS |
Organism-specific databases
HPAi | ENSG00000159658, Tissue enhanced (parathyroid) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 115152, 5 interactors |
IntActi | O75071, 5 interactors |
STRINGi | 9606.ENSP00000361001 |
Miscellaneous databases
RNActi | O75071, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 434 – 463 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 30 | |
Domaini | 464 – 495 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 32 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | ENOG502QSQB, Eukaryota |
GeneTreei | ENSGT00390000011196 |
HOGENOMi | CLU_043044_0_0_1 |
InParanoidi | O75071 |
OMAi | CHHRIEV |
OrthoDBi | 981622at2759 |
PhylomeDBi | O75071 |
TreeFami | TF331353 |
Family and domain databases
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR002048, EF_hand_dom IPR042352, EFCAB14 |
PANTHERi | PTHR15717, PTHR15717, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 2 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All
O75071-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MKKRKELNAL IGLAGDSRRK KPKKGPSSHR LLRTEPPDSD SESSSEEEEE
60 70 80 90 100
FGVVGNRSRF AKGDYLRCCK ICYPLCGFVI LAACVVACVG LVWMQVALKE
110 120 130 140 150
DLDALKEKFR TMESNQKSSF QEIPKLNEEL LSKQKQLEKI ESGEMGLNKV
160 170 180 190 200
WINITEMNKQ ISLLTSAVNH LKANVKSAAD LISLPTTVEG LQKSVASIGN
210 220 230 240 250
TLNSVHLAVE ALQKTVDEHK KTMELLQSDM NQHFLKETPG SNQIIPSPSA
260 270 280 290 300
TSELDNKTHS ENLKQDILYL HNSLEEVNSA LVGYQRQNDL KLEGMNETVS
310 320 330 340 350
NLTQRVNLIE SDVVAMSKVE KKANLSFSMM GDRSATLKRQ SLDQVTNRTD
360 370 380 390 400
TVKIQSIKKE DSSNSQVSKL REKLQLISAL TNKPESNRPP ETADEEQVES
410 420 430 440 450
FTSKPSALPK FSQFLGDPVE KAAQLRPISL PGVSSTEDLQ DLFRKTGQDV
460 470 480 490
DGKLTYQEIW TSLGSAMPEP ESLRAFDSDG DGRYSFLELR VALGI
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A5F9ZHQ6 | A0A5F9ZHQ6_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB14 | 526 | Annotation score: | ||
A0A6I8PIP2 | A0A6I8PIP2_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB14 | 431 | Annotation score: | ||
A0A6I8PIF8 | A0A6I8PIF8_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB14 | 463 | Annotation score: | ||
A0A6I8PU78 | A0A6I8PU78_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB14 | 455 | Annotation score: | ||
A0A6I8PS42 | A0A6I8PS42_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB14 | 115 | Annotation score: | ||
S4R3Q1 | S4R3Q1_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB14 | 66 | Annotation score: |
Sequence cautioni
The sequence BAA32328 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074176 | 239 | P → S1 Publication | 1 | |
Natural variantiVAR_048669 | 337 | L → P. Corresponds to variant dbSNP:rs6665021Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB007963 mRNA Translation: BAA32328.2 Different initiation. AL593856 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX06893.1 CH471059 Genomic DNA Translation: EAX06894.1 BC002525 mRNA Translation: AAH02525.1 |
CCDSi | CCDS30706.1 |
RefSeqi | NP_055589.1, NM_014774.2 |
Genome annotation databases
Ensembli | ENST00000371933; ENSP00000361001; ENSG00000159658 ENST00000672422; ENSP00000499873; ENSG00000159658 |
GeneIDi | 9813 |
KEGGi | hsa:9813 |
UCSCi | uc001cqk.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB007963 mRNA Translation: BAA32328.2 Different initiation. AL593856 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX06893.1 CH471059 Genomic DNA Translation: EAX06894.1 BC002525 mRNA Translation: AAH02525.1 |
CCDSi | CCDS30706.1 |
RefSeqi | NP_055589.1, NM_014774.2 |
3D structure databases
SMRi | O75071 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115152, 5 interactors |
IntActi | O75071, 5 interactors |
STRINGi | 9606.ENSP00000361001 |
PTM databases
CarbonylDBi | O75071 |
GlyConnecti | 1198, 1 N-Linked glycan (1 site) |
GlyGeni | O75071, 5 sites |
iPTMneti | O75071 |
PhosphoSitePlusi | O75071 |
SwissPalmi | O75071 |
Genetic variation databases
BioMutai | EFCAB14 |
Proteomic databases
EPDi | O75071 |
jPOSTi | O75071 |
MassIVEi | O75071 |
MaxQBi | O75071 |
PaxDbi | O75071 |
PeptideAtlasi | O75071 |
PRIDEi | O75071 |
ProteomicsDBi | 49737 |
Protocols and materials databases
Antibodypediai | 2537, 101 antibodies |
Genome annotation databases
Ensembli | ENST00000371933; ENSP00000361001; ENSG00000159658 ENST00000672422; ENSP00000499873; ENSG00000159658 |
GeneIDi | 9813 |
KEGGi | hsa:9813 |
UCSCi | uc001cqk.4, human |
Organism-specific databases
CTDi | 9813 |
DisGeNETi | 9813 |
GeneCardsi | EFCAB14 |
HGNCi | HGNC:29051, EFCAB14 |
HPAi | ENSG00000159658, Tissue enhanced (parathyroid) |
neXtProti | NX_O75071 |
OpenTargetsi | ENSG00000159658 |
PharmGKBi | PA142671630 |
VEuPathDBi | HostDB:ENSG00000159658.10 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSQB, Eukaryota |
GeneTreei | ENSGT00390000011196 |
HOGENOMi | CLU_043044_0_0_1 |
InParanoidi | O75071 |
OMAi | CHHRIEV |
OrthoDBi | 981622at2759 |
PhylomeDBi | O75071 |
TreeFami | TF331353 |
Enzyme and pathway databases
PathwayCommonsi | O75071 |
Miscellaneous databases
BioGRID-ORCSi | 9813, 4 hits in 877 CRISPR screens |
ChiTaRSi | EFCAB14, human |
GenomeRNAii | 9813 |
Pharosi | O75071, Tdark |
PROi | PR:O75071 |
RNActi | O75071, protein |
Gene expression databases
Bgeei | ENSG00000159658, Expressed in globus pallidus and 265 other tissues |
ExpressionAtlasi | O75071, baseline and differential |
Genevisiblei | O75071, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR002048, EF_hand_dom IPR042352, EFCAB14 |
PANTHERi | PTHR15717, PTHR15717, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EFC14_HUMAN | |
Accessioni | O75071Primary (citable) accession number: O75071 Secondary accession number(s): D3DQ23, Q5SXB8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2003 |
Last sequence update: | November 1, 1998 | |
Last modified: | February 10, 2021 | |
This is version 159 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 1
Human chromosome 1: 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