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Protein

EF-hand calcium-binding domain-containing protein 13

Gene

EFCAB13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Keywords - Ligandi

Calcium

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

HGNCiHGNC:26864. EFCAB13.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672240.

Polymorphism and mutation databases

BioMutaiEFCAB13.
DMDMi134034056.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 973973EF-hand calcium-binding domain-containing protein 13PRO_0000281110Add
BLAST

Proteomic databases

PaxDbiQ8IY85.
PRIDEiQ8IY85.

PTM databases

iPTMnetiQ8IY85.
PhosphoSiteiQ8IY85.

Expressioni

Gene expression databases

BgeeiQ8IY85.
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. Positions 219-282, 472-591, 601-663, 750-894.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini488 – 52336EF-hand 1Add
BLAST
Domaini524 – 55936EF-hand 2Add
BLAST
Domaini633 – 66836EF-hand 3Add
BLAST
Domaini756 – 79136EF-hand 4Add
BLAST
Domaini792 – 82736EF-hand 5Add
BLAST
Domaini864 – 89936EF-hand 6Add
BLAST

Sequence similaritiesi

Contains 6 EF-hand domains.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00390000004027.
HOGENOMiHOG000111932.
InParanoidiQ8IY85.
OMAiHVPEHES.
OrthoDBiEOG76DTRP.
PhylomeDBiQ8IY85.
TreeFamiTF337478.

Family and domain databases

Gene3Di1.10.238.10. 3 hits.
InterProiIPR011992. EF-hand-dom_pair.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 3 hits.

Sequences (2)i

Sequence statusi: Complete.

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

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

Sequence cautioni

The sequence AAH37876.1 differs from that shown. Reason: Frameshift at position 342. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti279 – 2791I → V.
Corresponds to variant rs55853213 [ dbSNP | Ensembl ].
VAR_061091
Natural varianti286 – 2861Q → H in a breast cancer sample; somatic mutation. 1 Publication
VAR_035465
Natural varianti312 – 3121V → I.1 Publication
Corresponds to variant rs4968318 [ dbSNP | Ensembl ].
VAR_031228
Natural varianti617 – 6171M → V.1 Publication
Corresponds to variant rs17855599 [ dbSNP | Ensembl ].
VAR_031229

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei173 – 26997ALHKA…TYIDS → G in isoform 2. 1 PublicationVSP_047187Add
BLAST
Alternative sequencei880 – 8801E → G in isoform 2. 1 PublicationVSP_047188
Alternative sequencei881 – 97393Missing in isoform 2. 1 PublicationVSP_047189Add
BLAST

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

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. Positions 219-282, 472-591, 601-663, 750-894.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000332111.

PTM databases

iPTMnetiQ8IY85.
PhosphoSiteiQ8IY85.

Polymorphism and mutation databases

BioMutaiEFCAB13.
DMDMi134034056.

Proteomic databases

PaxDbiQ8IY85.
PRIDEiQ8IY85.

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.
GeneCardsiEFCAB13.
HGNCiHGNC:26864. EFCAB13.
HPAiCAB002501.
HPA021633.
HPA023249.
HPA026561.
neXtProtiNX_Q8IY85.
PharmGKBiPA142672240.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00390000004027.
HOGENOMiHOG000111932.
InParanoidiQ8IY85.
OMAiHVPEHES.
OrthoDBiEOG76DTRP.
PhylomeDBiQ8IY85.
TreeFamiTF337478.

Miscellaneous databases

GenomeRNAii124989.
PROiQ8IY85.

Gene expression databases

BgeeiQ8IY85.
CleanExiHS_C17orf57.
ExpressionAtlasiQ8IY85. baseline and differential.
GenevisibleiQ8IY85. HS.

Family and domain databases

Gene3Di1.10.238.10. 3 hits.
InterProiIPR011992. EF-hand-dom_pair.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 3 hits.
ProtoNetiSearch...

Publicationsi

  1. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS ILE-312 AND VAL-617.
    Tissue: Testis.
  4. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-286.

Entry informationi

Entry nameiEFC13_HUMAN
AccessioniPrimary (citable) accession number: Q8IY85
Secondary accession number(s): G3V128, Q49AG9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: June 8, 2016
This is version 112 of the entry and version 2 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.