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Protein

EF-hand calcium-binding domain-containing protein 13

Gene

EFCAB13

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

Functioni

Keywordsi

LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 13
Gene namesi
Name:EFCAB13
Synonyms:C17orf57
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000178852.15
HGNCiHGNC:26864 EFCAB13
neXtProtiNX_Q8IY85

Pathology & Biotechi

Organism-specific databases

DisGeNETi124989
OpenTargetsiENSG00000178852
PharmGKBiPA142672240

Polymorphism and mutation databases

BioMutaiEFCAB13
DMDMi134034056

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002811101 – 973EF-hand calcium-binding domain-containing protein 13Add BLAST973

Proteomic databases

PaxDbiQ8IY85
PeptideAtlasiQ8IY85
PRIDEiQ8IY85
ProteomicsDBi71125
71126 [Q8IY85-2]

PTM databases

iPTMnetiQ8IY85
PhosphoSitePlusiQ8IY85

Expressioni

Gene expression databases

BgeeiENSG00000178852 Expressed in 106 organ(s), highest expression level in left coronary artery
CleanExiHS_C17orf57
ExpressionAtlasiQ8IY85 baseline and differential
GenevisibleiQ8IY85 HS

Organism-specific databases

HPAiCAB002501
HPA021633
HPA023249
HPA026561

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000332111

Structurei

3D structure databases

ProteinModelPortaliQ8IY85
SMRiQ8IY85
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini488 – 523EF-hand 1Add BLAST36
Domaini524 – 559EF-hand 2Add BLAST36
Domaini633 – 668EF-hand 3Add BLAST36
Domaini756 – 791EF-hand 4Add BLAST36
Domaini792 – 827EF-hand 5Add BLAST36
Domaini864 – 899EF-hand 6Add BLAST36

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00390000004027
HOGENOMiHOG000111932
InParanoidiQ8IY85
OMAiACKIFSK
OrthoDBiEOG091G01RS
PhylomeDBiQ8IY85
TreeFamiTF337478

Family and domain databases

InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
SUPFAMiSSF47473 SSF47473, 3 hits

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IY85-1) [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
METKVHLFCQ AEENIDLLDD GSNSFATDLS SGTINHKKYI KFSKTIEKEI
60 70 80 90 100
SPEIRSLSPE YKKIFETSII FCGEEKSSDF SGEKKVGRKS LQVQQHSKRT
110 120 130 140 150
EIIPPFLKLS KEKVTRKENS LCKLPNQYSV HKTSSPLCTS SAITREKEML
160 170 180 190 200
SNLYMTLYDE VTHGYLHSKE LSALHKACKI FSKIRSGKIY VNDLPVILCI
210 220 230 240 250
LRISISDLEM RQALKTVDID AFQDALKIFC RIKGGRVSTD DVFAVLDSMG
260 270 280 290 300
IPINREILEE VTKHTYIDSN HMVDIGDIIF TLNELQEQYE DVSITEGSPL
310 320 330 340 350
NEITSDRKLS SVAGCYLKYK KKNSLSSKLP EPSISKKLNK KSNQYYSKIM
360 370 380 390 400
ENDDLESKRP KNTWQIRKFL GGVGSSNVGV QEPYSKNGIN FKKHSEKGEI
410 420 430 440 450
HDSKSKPQSL KSSTSLSKSL DKSDISSIPK LQKPAVRKHS SLQKQVSSTE
460 470 480 490 500
KTAISTLENF CEAISKLQEN YIAAEELQSI LPSTGINLLD EEFQKIVTDT
510 520 530 540 550
SRNENGMVEL DDFVNALAKE RSFPECNALP GVIKAIDKIK DKNVDYEDLN
560 570 580 590 600
TCLQNFGIYL SKPEFKKITE LTEAGETKKV NFKEFIDTMM SNTECFSEKL
610 620 630 640 650
VLPDAIETLD DLRKETMSVS DLWNTLSSLN SNLKKDEFLA ALELVTVDEG
660 670 680 690 700
DKVQFEEFAK VVRNMRDAAR LEELQEVVLA ADLLEGDMIA GKNLEDFLRN
710 720 730 740 750
VGIKSPKEEV EKILQSDFVS EDNMVNIKDC MRALRDTQKF SNYIDFRKEA
760 770 780 790 800
SNLKLPKVNE IKEAANILSH VDNGKIGIPD LEHALKCLNV NLTEEDFNEA
810 820 830 840 850
LNCCNVSDNM EVDLKDFLMK MKESPHFQKS KATQILLATT QILQNDLVDV
860 870 880 890 900
SDLKTLLMDK DLHTANAILT VMLRHVPEHE SGKVSIQEFM TKLSDILTIP
910 920 930 940 950
KAAGKFYLIC TYCPDLERQA VVYMLKTIQD SIVKAQVSKK QYNMNIKQHK
960 970
ISLHNFCLNS KANIAKLNPN SKF
Length:973
Mass (Da):110,129
Last modified:March 20, 2007 - v2
Checksum:iD46091F56D7DE1A9
GO
Isoform 2 (identifier: Q8IY85-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-269: ALHKACKIFS...EVTKHTYIDS → G
     880-880: E → G
     881-973: Missing.

Show »
Length:784
Mass (Da):88,630
Checksum:iB417493C1570516E
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YBI2H0YBI2_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB13
200Annotation score:
E5RI18E5RI18_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB13
53Annotation score:
E5RFW6E5RFW6_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB13
37Annotation score:
K7ELL9K7ELL9_HUMAN
EF-hand calcium-binding domain-cont...
EFCAB13
104Annotation score:

Sequence cautioni

The sequence AAH37876 differs from that shown. Reason: Frameshift at position 342.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061091279I → V. Corresponds to variant dbSNP:rs55853213Ensembl.1
Natural variantiVAR_035465286Q → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_031228312V → I1 PublicationCorresponds to variant dbSNP:rs4968318Ensembl.1
Natural variantiVAR_031229617M → V1 PublicationCorresponds to variant dbSNP:rs17855599Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047187173 – 269ALHKA…TYIDS → G in isoform 2. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_047188880E → G in isoform 2. 1 Publication1
Alternative sequenceiVSP_047189881 – 973Missing in isoform 2. 1 PublicationAdd BLAST93

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC040934 Genomic DNA No translation available.
AC068234 Genomic DNA No translation available.
CH471231 Genomic DNA Translation: EAW57672.1
BC036407 mRNA Translation: AAH36407.1
BC037876 mRNA Translation: AAH37876.1 Frameshift.
CCDSiCCDS11512.1 [Q8IY85-1]
CCDS56034.1 [Q8IY85-2]
RefSeqiNP_001182121.1, NM_001195192.1 [Q8IY85-2]
NP_689560.3, NM_152347.4 [Q8IY85-1]
UniGeneiHs.463303

Genome annotation databases

EnsembliENST00000331493; ENSP00000332111; ENSG00000178852 [Q8IY85-1]
ENST00000517484; ENSP00000430048; ENSG00000178852 [Q8IY85-2]
GeneIDi124989
KEGGihsa:124989
UCSCiuc002ilm.4 human [Q8IY85-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC040934 Genomic DNA No translation available.
AC068234 Genomic DNA No translation available.
CH471231 Genomic DNA Translation: EAW57672.1
BC036407 mRNA Translation: AAH36407.1
BC037876 mRNA Translation: AAH37876.1 Frameshift.
CCDSiCCDS11512.1 [Q8IY85-1]
CCDS56034.1 [Q8IY85-2]
RefSeqiNP_001182121.1, NM_001195192.1 [Q8IY85-2]
NP_689560.3, NM_152347.4 [Q8IY85-1]
UniGeneiHs.463303

3D structure databases

ProteinModelPortaliQ8IY85
SMRiQ8IY85
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000332111

PTM databases

iPTMnetiQ8IY85
PhosphoSitePlusiQ8IY85

Polymorphism and mutation databases

BioMutaiEFCAB13
DMDMi134034056

Proteomic databases

PaxDbiQ8IY85
PeptideAtlasiQ8IY85
PRIDEiQ8IY85
ProteomicsDBi71125
71126 [Q8IY85-2]

Protocols and materials databases

DNASUi124989
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331493; ENSP00000332111; ENSG00000178852 [Q8IY85-1]
ENST00000517484; ENSP00000430048; ENSG00000178852 [Q8IY85-2]
GeneIDi124989
KEGGihsa:124989
UCSCiuc002ilm.4 human [Q8IY85-1]

Organism-specific databases

CTDi124989
DisGeNETi124989
EuPathDBiHostDB:ENSG00000178852.15
GeneCardsiEFCAB13
HGNCiHGNC:26864 EFCAB13
HPAiCAB002501
HPA021633
HPA023249
HPA026561
neXtProtiNX_Q8IY85
OpenTargetsiENSG00000178852
PharmGKBiPA142672240
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0027 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00390000004027
HOGENOMiHOG000111932
InParanoidiQ8IY85
OMAiACKIFSK
OrthoDBiEOG091G01RS
PhylomeDBiQ8IY85
TreeFamiTF337478

Miscellaneous databases

ChiTaRSiEFCAB13 human
GenomeRNAii124989
PROiPR:Q8IY85

Gene expression databases

BgeeiENSG00000178852 Expressed in 106 organ(s), highest expression level in left coronary artery
CleanExiHS_C17orf57
ExpressionAtlasiQ8IY85 baseline and differential
GenevisibleiQ8IY85 HS

Family and domain databases

InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
SUPFAMiSSF47473 SSF47473, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiEFC13_HUMAN
AccessioniPrimary (citable) accession number: Q8IY85
Secondary accession number(s): G3V128, Q49AG9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: September 12, 2018
This is version 126 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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