UniProtKB - Q8N7B9 (EFCB3_HUMAN)
Protein
EF-hand calcium-binding domain-containing protein 3
Gene
EFCAB3
Organism
Homo sapiens (Human)
Status
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 96 – 107 | 1PROSITE-ProRule annotationAdd BLAST | 12 |
GO - Molecular functioni
- calcium ion binding Source: InterPro
Keywordsi
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8N7B9 |
Protein family/group databases
TCDBi | 8.A.82.4.1, the calmodulin calcium binding protein (calmodulin) family |
Names & Taxonomyi
Protein namesi | Recommended name: EF-hand calcium-binding domain-containing protein 3 |
Gene namesi | Name:EFCAB3 |
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:26379, EFCAB3 |
neXtProti | NX_Q8N7B9 |
VEuPathDBi | HostDB:ENSG00000172421.7 |
Pathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000172421 |
PharmGKBi | PA143485451 |
Miscellaneous databases
Pharosi | Q8N7B9, Tdark |
Genetic variation databases
BioMutai | EFCAB3 |
DMDMi | 74759977 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000253547 | 1 – 438 | EF-hand calcium-binding domain-containing protein 3Add BLAST | 438 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 279 | PhosphotyrosineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | Q8N7B9 |
PaxDbi | Q8N7B9 |
PeptideAtlasi | Q8N7B9 |
PRIDEi | Q8N7B9 |
ProteomicsDBi | 72284 [Q8N7B9-1] |
PTM databases
iPTMneti | Q8N7B9 |
PhosphoSitePlusi | Q8N7B9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000172421, Expressed in testis and 56 other tissues |
ExpressionAtlasi | Q8N7B9, baseline and differential |
Genevisiblei | Q8N7B9, HS |
Organism-specific databases
HPAi | ENSG00000172421, Tissue enriched (testis) |
Interactioni
Binary interactionsi
Hide detailsIsoform 2 [Q8N7B9-2]
Protein-protein interaction databases
BioGRIDi | 127010, 16 interactors |
IntActi | Q8N7B9, 9 interactors |
STRINGi | 9606.ENSP00000403932 |
Miscellaneous databases
RNActi | Q8N7B9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 47 – 82 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 83 – 118 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00940000161358 |
HOGENOMi | CLU_055753_0_0_1 |
InParanoidi | Q8N7B9 |
OMAi | FENYFFH |
OrthoDBi | 17796at2759 |
PhylomeDBi | Q8N7B9 |
TreeFami | TF328393 |
Family and domain databases
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR043520, SPT21/EFCAB3 |
PANTHERi | PTHR47500, PTHR47500, 1 hit |
Pfami | View protein in Pfam PF13833, EF-hand_8, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 1 hit PS50222, EF_HAND_2, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8N7B9-1) [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
MAVSEIKPKL KLNPLTKVPI SHNKRDRDLP GSLQCQLQHK EKKLSASQMA
60 70 80 90 100
AFQDAYNFFY KDKTGCIDFH GLMCTVAKLG MNLTKHDVYN ELKCADIDRD
110 120 130 140 150
GKVNFSDFIK VLTDKNLFLK AVVPEKETCL DLAGNPGILL FEILSRLLET
160 170 180 190 200
SALPRKSIIE IVSYFQRKFQ HTGPGMLWSP YTMGYGKRTL KPDICTPPSS
210 220 230 240 250
SMAAFANAAR IAIMKEKDLF KFLEELKRCN SGSDSPYSKI PIFPLFPNVD
260 270 280 290 300
GVVMGKPFKD MQKLEMLRIK EPLHFFEDYF FHKRDWKTQA ANIKSMDPAS
310 320 330 340 350
GYSNNIFTID QMLKKKQTCT VADATAIKQH VKRATDTYNL GIALEHRKEM
360 370 380 390 400
LNLWQKIRGD LIGMDSRNES FYDTFSTYTW SWNVCQELLS PKDLRLYDAY
410 420 430
VNRNSSHNSR SSSSSDTSEC YTDSGRKRKR KGLKGFQQ
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RJB7 | E5RJB7_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB3 | 174 | Annotation score: | ||
E5RHB1 | E5RHB1_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB3 | 162 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_028377 | 341 | G → R. Corresponds to variant dbSNP:rs12602985Ensembl. | 1 | |
Natural variantiVAR_028378 | 364 | M → I. Corresponds to variant dbSNP:rs1056642Ensembl. | 1 | |
Natural variantiVAR_028379 | 370 | S → A. Corresponds to variant dbSNP:rs1056643Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047183 | 1 | M → MKELMPHLTFNGNGKINVNS IMEGLKKFKPKGMVTLHKLK TANDIKDRVTGHM in isoform 2. Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK098684 mRNA Translation: BAC05376.1 AC008026 Genomic DNA No translation available. BC101752 mRNA Translation: AAI01753.1 BC101778 mRNA Translation: AAI01779.1 |
CCDSi | CCDS11632.1 [Q8N7B9-1] CCDS45751.1 [Q8N7B9-2] |
RefSeqi | NP_001138405.1, NM_001144933.1 [Q8N7B9-2] NP_775774.1, NM_173503.3 [Q8N7B9-1] XP_011522682.1, XM_011524380.1 [Q8N7B9-1] XP_011522683.1, XM_011524381.1 |
Genome annotation databases
Ensembli | ENST00000305286; ENSP00000302649; ENSG00000172421 [Q8N7B9-1] ENST00000450662; ENSP00000403932; ENSG00000172421 [Q8N7B9-2] |
GeneIDi | 146779 |
KEGGi | hsa:146779 |
UCSCi | uc002izu.3, human [Q8N7B9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK098684 mRNA Translation: BAC05376.1 AC008026 Genomic DNA No translation available. BC101752 mRNA Translation: AAI01753.1 BC101778 mRNA Translation: AAI01779.1 |
CCDSi | CCDS11632.1 [Q8N7B9-1] CCDS45751.1 [Q8N7B9-2] |
RefSeqi | NP_001138405.1, NM_001144933.1 [Q8N7B9-2] NP_775774.1, NM_173503.3 [Q8N7B9-1] XP_011522682.1, XM_011524380.1 [Q8N7B9-1] XP_011522683.1, XM_011524381.1 |
3D structure databases
SMRi | Q8N7B9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127010, 16 interactors |
IntActi | Q8N7B9, 9 interactors |
STRINGi | 9606.ENSP00000403932 |
Protein family/group databases
TCDBi | 8.A.82.4.1, the calmodulin calcium binding protein (calmodulin) family |
PTM databases
iPTMneti | Q8N7B9 |
PhosphoSitePlusi | Q8N7B9 |
Genetic variation databases
BioMutai | EFCAB3 |
DMDMi | 74759977 |
Proteomic databases
MassIVEi | Q8N7B9 |
PaxDbi | Q8N7B9 |
PeptideAtlasi | Q8N7B9 |
PRIDEi | Q8N7B9 |
ProteomicsDBi | 72284 [Q8N7B9-1] |
Protocols and materials databases
Antibodypediai | 18612, 38 antibodies |
Genome annotation databases
Ensembli | ENST00000305286; ENSP00000302649; ENSG00000172421 [Q8N7B9-1] ENST00000450662; ENSP00000403932; ENSG00000172421 [Q8N7B9-2] |
GeneIDi | 146779 |
KEGGi | hsa:146779 |
UCSCi | uc002izu.3, human [Q8N7B9-1] |
Organism-specific databases
CTDi | 146779 |
GeneCardsi | EFCAB3 |
HGNCi | HGNC:26379, EFCAB3 |
HPAi | ENSG00000172421, Tissue enriched (testis) |
neXtProti | NX_Q8N7B9 |
OpenTargetsi | ENSG00000172421 |
PharmGKBi | PA143485451 |
VEuPathDBi | HostDB:ENSG00000172421.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00940000161358 |
HOGENOMi | CLU_055753_0_0_1 |
InParanoidi | Q8N7B9 |
OMAi | FENYFFH |
OrthoDBi | 17796at2759 |
PhylomeDBi | Q8N7B9 |
TreeFami | TF328393 |
Enzyme and pathway databases
PathwayCommonsi | Q8N7B9 |
Miscellaneous databases
BioGRID-ORCSi | 146779, 4 hits in 975 CRISPR screens |
ChiTaRSi | EFCAB3, human |
GenomeRNAii | 146779 |
Pharosi | Q8N7B9, Tdark |
PROi | PR:Q8N7B9 |
RNActi | Q8N7B9, protein |
Gene expression databases
Bgeei | ENSG00000172421, Expressed in testis and 56 other tissues |
ExpressionAtlasi | Q8N7B9, baseline and differential |
Genevisiblei | Q8N7B9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR043520, SPT21/EFCAB3 |
PANTHERi | PTHR47500, PTHR47500, 1 hit |
Pfami | View protein in Pfam PF13833, EF-hand_8, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 1 hit PS50222, EF_HAND_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EFCB3_HUMAN | |
Accessioni | Q8N7B9Primary (citable) accession number: Q8N7B9 Secondary accession number(s): J3KQM8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 17, 2006 |
Last sequence update: | October 1, 2002 | |
Last modified: | April 7, 2021 | |
This is version 139 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 17
Human chromosome 17: 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