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Protein

EF-hand calcium-binding domain-containing protein 1

Gene

EFCAB1

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 bindingi77 – 881PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi113 – 1242PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi158 – 1693PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000034239-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 1
Gene namesi
Name:EFCAB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:25678. EFCAB1.

Pathology & Biotechi

Organism-specific databases

DisGeNETi79645.
OpenTargetsiENSG00000034239.
PharmGKBiPA142671913.

Polymorphism and mutation databases

BioMutaiEFCAB1.
DMDMi74761592.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002519691 – 211EF-hand calcium-binding domain-containing protein 1Add BLAST211

Proteomic databases

PaxDbiQ9HAE3.
PeptideAtlasiQ9HAE3.
PRIDEiQ9HAE3.

PTM databases

iPTMnetiQ9HAE3.
PhosphoSitePlusiQ9HAE3.

Expressioni

Gene expression databases

BgeeiENSG00000034239.
CleanExiHS_EFCAB1.
ExpressionAtlasiQ9HAE3. baseline and differential.
GenevisibleiQ9HAE3. HS.

Organism-specific databases

HPAiHPA023527.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000262103.

Structurei

3D structure databases

ProteinModelPortaliQ9HAE3.
SMRiQ9HAE3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini64 – 99EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini100 – 135EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini145 – 180EF-hand 3PROSITE-ProRule annotationAdd BLAST36

Sequence similaritiesi

Contains 3 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0044. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00670000098053.
HOGENOMiHOG000007914.
HOVERGENiHBG105231.
InParanoidiQ9HAE3.
OMAiCVNVSEW.
OrthoDBiEOG091G0RNB.
PhylomeDBiQ9HAE3.
TreeFamiTF323358.

Family and domain databases

CDDicd00051. EFh. 2 hits.
Gene3Di1.10.238.10. 3 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9HAE3-1) [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
MNRKKLQKLT DTLTKNCKHF NKFEVNCLIK LFYDLVGGVE RQGLVVGLDR
60 70 80 90 100
NAFRNILHVT FGMTDDMIMD RVFRGFDKDN DGCVNVLEWI HGLSLFLRGS
110 120 130 140 150
LEEKMKYCFE VFDLNGDGFI SKEEMFHMLK NSLLKQPSEE DPDEGIKDLV
160 170 180 190 200
EITLKKMDHD HDGKLSFADY ELAVREETLL LEAFGPCLPD PKSQMEFEAQ
210
VFKDPNEFND M
Length:211
Mass (Da):24,488
Last modified:March 1, 2001 - v1
Checksum:iF162ABB162A97479
GO
Isoform 2 (identifier: Q9HAE3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: F → L
     21-72: Missing.

Show »
Length:159
Mass (Da):18,498
Checksum:iC11DDE950E942298
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13L → S in BAG61576 (PubMed:16421571).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04133020F → L in isoform 2. 1 Publication1
Alternative sequenceiVSP_04133121 – 72Missing in isoform 2. 1 PublicationAdd BLAST52

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK021829 mRNA. Translation: BAB13906.1.
AK299659 mRNA. Translation: BAG61576.1.
AC022915 Genomic DNA. No translation available.
BC025676 mRNA. Translation: AAH25676.1.
CCDSiCCDS47853.1. [Q9HAE3-2]
CCDS6145.1. [Q9HAE3-1]
RefSeqiNP_001136329.1. NM_001142857.1. [Q9HAE3-2]
NP_078869.1. NM_024593.3. [Q9HAE3-1]
XP_005251360.1. XM_005251303.1. [Q9HAE3-1]
XP_011515891.1. XM_011517589.1. [Q9HAE3-1]
UniGeneiHs.23245.

Genome annotation databases

EnsembliENST00000262103; ENSP00000262103; ENSG00000034239. [Q9HAE3-1]
ENST00000433756; ENSP00000400873; ENSG00000034239. [Q9HAE3-2]
ENST00000523092; ENSP00000430765; ENSG00000034239. [Q9HAE3-2]
GeneIDi79645.
KEGGihsa:79645.
UCSCiuc003xqo.3. human. [Q9HAE3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK021829 mRNA. Translation: BAB13906.1.
AK299659 mRNA. Translation: BAG61576.1.
AC022915 Genomic DNA. No translation available.
BC025676 mRNA. Translation: AAH25676.1.
CCDSiCCDS47853.1. [Q9HAE3-2]
CCDS6145.1. [Q9HAE3-1]
RefSeqiNP_001136329.1. NM_001142857.1. [Q9HAE3-2]
NP_078869.1. NM_024593.3. [Q9HAE3-1]
XP_005251360.1. XM_005251303.1. [Q9HAE3-1]
XP_011515891.1. XM_011517589.1. [Q9HAE3-1]
UniGeneiHs.23245.

3D structure databases

ProteinModelPortaliQ9HAE3.
SMRiQ9HAE3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000262103.

PTM databases

iPTMnetiQ9HAE3.
PhosphoSitePlusiQ9HAE3.

Polymorphism and mutation databases

BioMutaiEFCAB1.
DMDMi74761592.

Proteomic databases

PaxDbiQ9HAE3.
PeptideAtlasiQ9HAE3.
PRIDEiQ9HAE3.

Protocols and materials databases

DNASUi79645.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262103; ENSP00000262103; ENSG00000034239. [Q9HAE3-1]
ENST00000433756; ENSP00000400873; ENSG00000034239. [Q9HAE3-2]
ENST00000523092; ENSP00000430765; ENSG00000034239. [Q9HAE3-2]
GeneIDi79645.
KEGGihsa:79645.
UCSCiuc003xqo.3. human. [Q9HAE3-1]

Organism-specific databases

CTDi79645.
DisGeNETi79645.
GeneCardsiEFCAB1.
HGNCiHGNC:25678. EFCAB1.
HPAiHPA023527.
neXtProtiNX_Q9HAE3.
OpenTargetsiENSG00000034239.
PharmGKBiPA142671913.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0044. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00670000098053.
HOGENOMiHOG000007914.
HOVERGENiHBG105231.
InParanoidiQ9HAE3.
OMAiCVNVSEW.
OrthoDBiEOG091G0RNB.
PhylomeDBiQ9HAE3.
TreeFamiTF323358.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000034239-MONOMER.

Miscellaneous databases

GenomeRNAii79645.
PROiQ9HAE3.

Gene expression databases

BgeeiENSG00000034239.
CleanExiHS_EFCAB1.
ExpressionAtlasiQ9HAE3. baseline and differential.
GenevisibleiQ9HAE3. HS.

Family and domain databases

CDDicd00051. EFh. 2 hits.
Gene3Di1.10.238.10. 3 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEFCB1_HUMAN
AccessioniPrimary (citable) accession number: Q9HAE3
Secondary accession number(s): B4DSB4, E7EVN7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 128 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. 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.