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Protein

EF-hand calcium-binding domain-containing protein 3

Gene

EFCAB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi96 – 1071PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172421-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 3
Gene namesi
Name:EFCAB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26379. EFCAB3.

Pathology & Biotechi

Organism-specific databases

DisGeNETi146779.
OpenTargetsiENSG00000172421.
PharmGKBiPA143485451.

Polymorphism and mutation databases

BioMutaiEFCAB3.
DMDMi74759977.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002535471 – 438EF-hand calcium-binding domain-containing protein 3Add BLAST438

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei279PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N7B9.
PeptideAtlasiQ8N7B9.
PRIDEiQ8N7B9.

PTM databases

iPTMnetiQ8N7B9.
PhosphoSitePlusiQ8N7B9.

Expressioni

Gene expression databases

BgeeiENSG00000172421.
CleanExiHS_EFCAB3.
ExpressionAtlasiQ8N7B9. baseline and differential.
GenevisibleiQ8N7B9. HS.

Organism-specific databases

HPAiHPA023317.
HPA046862.

Interactioni

Protein-protein interaction databases

IntActiQ8N7B9. 4 interactors.
STRINGi9606.ENSP00000403932.

Structurei

3D structure databases

ProteinModelPortaliQ8N7B9.
SMRiQ8N7B9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini47 – 82EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini83 – 118EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Sequence similaritiesi

Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00530000063748.
HOGENOMiHOG000049157.
HOVERGENiHBG079564.
InParanoidiQ8N7B9.
OMAiIALEHRK.
OrthoDBiEOG091G08U6.
PhylomeDBiQ8N7B9.
TreeFamiTF328393.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13833. EF-hand_8. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N7B9-1) [UniParc]FASTAAdd 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
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
Length:438
Mass (Da):50,147
Last modified:October 1, 2002 - v1
Checksum:i5B3FC3028F44B325
GO
Isoform 2 (identifier: Q8N7B9-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:490
Mass (Da):55,991
Checksum:i3FACD2390B0562FA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028377341G → R.Corresponds to variant rs12602985dbSNPEnsembl.1
Natural variantiVAR_028378364M → I.Corresponds to variant rs1056642dbSNPEnsembl.1
Natural variantiVAR_028379370S → A.Corresponds to variant rs1056643dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0471831M → MKELMPHLTFNGNGKINVNS IMEGLKKFKPKGMVTLHKLK TANDIKDRVTGHM in isoform 2. Curated1

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.
CCDSiCCDS11632.1. [Q8N7B9-1]
CCDS45751.1. [Q8N7B9-2]
RefSeqiNP_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. [Q8N7B9-1]
UniGeneiHs.152670.

Genome annotation databases

EnsembliENST00000305286; ENSP00000302649; ENSG00000172421. [Q8N7B9-1]
ENST00000450662; ENSP00000403932; ENSG00000172421. [Q8N7B9-2]
GeneIDi146779.
KEGGihsa:146779.
UCSCiuc002izu.3. human. [Q8N7B9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS11632.1. [Q8N7B9-1]
CCDS45751.1. [Q8N7B9-2]
RefSeqiNP_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. [Q8N7B9-1]
UniGeneiHs.152670.

3D structure databases

ProteinModelPortaliQ8N7B9.
SMRiQ8N7B9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8N7B9. 4 interactors.
STRINGi9606.ENSP00000403932.

PTM databases

iPTMnetiQ8N7B9.
PhosphoSitePlusiQ8N7B9.

Polymorphism and mutation databases

BioMutaiEFCAB3.
DMDMi74759977.

Proteomic databases

PaxDbiQ8N7B9.
PeptideAtlasiQ8N7B9.
PRIDEiQ8N7B9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305286; ENSP00000302649; ENSG00000172421. [Q8N7B9-1]
ENST00000450662; ENSP00000403932; ENSG00000172421. [Q8N7B9-2]
GeneIDi146779.
KEGGihsa:146779.
UCSCiuc002izu.3. human. [Q8N7B9-1]

Organism-specific databases

CTDi146779.
DisGeNETi146779.
GeneCardsiEFCAB3.
HGNCiHGNC:26379. EFCAB3.
HPAiHPA023317.
HPA046862.
neXtProtiNX_Q8N7B9.
OpenTargetsiENSG00000172421.
PharmGKBiPA143485451.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00530000063748.
HOGENOMiHOG000049157.
HOVERGENiHBG079564.
InParanoidiQ8N7B9.
OMAiIALEHRK.
OrthoDBiEOG091G08U6.
PhylomeDBiQ8N7B9.
TreeFamiTF328393.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172421-MONOMER.

Miscellaneous databases

GenomeRNAii146779.
PROiQ8N7B9.

Gene expression databases

BgeeiENSG00000172421.
CleanExiHS_EFCAB3.
ExpressionAtlasiQ8N7B9. baseline and differential.
GenevisibleiQ8N7B9. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13833. EF-hand_8. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEFCB3_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 112 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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
  4. SIMILARITY comments
    Index of protein domains and families

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.