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Q6NXP0 (EFC12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
EF-hand calcium-binding domain-containing protein 12
Gene names
Name:EFCAB12
Synonyms:C3orf25
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length572 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 EF-hand domain.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   LigandCalcium
Metal-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 572572EF-hand calcium-binding domain-containing protein 12
PRO_0000238660

Regions

Domain196 – 23136EF-hand
Calcium binding206 – 21712 Potential

Natural variations

Natural variant361P → L.
Corresponds to variant rs58932597 [ dbSNP | Ensembl ].
VAR_061089
Natural variant661E → G.
Corresponds to variant rs3774787 [ dbSNP | Ensembl ].
VAR_033697
Natural variant2151R → G.
Corresponds to variant rs6790768 [ dbSNP | Ensembl ].
VAR_048667
Natural variant2801H → R.
Corresponds to variant rs9836111 [ dbSNP | Ensembl ].
VAR_061090
Natural variant5411P → S.
Corresponds to variant rs12637267 [ dbSNP | Ensembl ].
VAR_048668

Sequences

Sequence LengthMass (Da)Tools
Q6NXP0 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 7F2695D741E83A17

FASTA57266,551
        10         20         30         40         50         60 
MDDDYEAYHS LFLSLLGLCP SKTPINENAP VFDPEPVIAH CFKQFQQKDF RLPQTRRRII 

        70         80         90        100        110        120 
MVPRKEDQTP LNPASQPQAP PKPIPSFKVL EARDIQEQPE DRKTWLSQRS KLRQELESFG 

       130        140        150        160        170        180 
DVKRWLENKP SITPSEAKVL HMIHEEQSAQ PNASQATTRT TRKKAPRLSR LSRQMVPQLQ 

       190        200        210        220        230        240 
LPEPPALSVM YSYLHSRKIK ILEIFHKVGQ GENQRITREE FIAAVKAVGV PLKNQEVEDI 

       250        260        270        280        290        300 
VIYLSSLGKH NTITMDILAN TYKQWSMAQQ RSSLATAREH YILAKHRDSL KGPLKKQEVD 

       310        320        330        340        350        360 
SAPQLPKVDL LTVPAVDTQM ETRPMTLEEM EEVGKRYRER QRQHKLTIPS IQYTEQCHLV 

       370        380        390        400        410        420 
RCGNRHFDEH CLPSTIHGDM RELIDSARRH NFLVYLQCWK LCKSYGLPLT EDILMKALLY 

       430        440        450        460        470        480 
PGDKIIFQMD KVCPIRQPGG YYSDWKVFSP NLALLRSQGP GKSKRTDKKT PKKSKKMRFK 

       490        500        510        520        530        540 
EFEEFTRKLK VKRSSGLQQT HPNSFWPGHL LDKLQLYLPT VATDRSLALF SCVQHQPHVY 

       550        560        570 
PATYHPDHWW PLRNKNYMTH AHYDAAKVYY IN 

« Hide

References

[1]"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].
Tissue: Brain.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 91-572.
Tissue: Testis.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BC066975 mRNA. Translation: AAH66975.1.
AL133011 mRNA. Translation: CAH10712.1.
CCDSCCDS54638.1.
RefSeqNP_997190.1. NM_207307.1.
UniGeneHs.652347.

3D structure databases

ProteinModelPortalQ6NXP0.
SMRQ6NXP0. Positions 200-262.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000324241.

PTM databases

PhosphoSiteQ6NXP0.

Polymorphism databases

DMDM74736979.

Proteomic databases

PaxDbQ6NXP0.
PRIDEQ6NXP0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326085; ENSP00000324241; ENSG00000172771.
ENST00000505956; ENSP00000420854; ENSG00000172771.
GeneID90288.
KEGGhsa:90288.
UCSCuc003emg.3. human.

Organism-specific databases

CTD90288.
GeneCardsGC03M129122.
H-InvDBHIX0200500.
HGNCHGNC:28061. EFCAB12.
HPAHPA037694.
neXtProtNX_Q6NXP0.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70703.
HOGENOMHOG000111362.
HOVERGENHBG081006.
InParanoidQ6NXP0.
OMATITMDIL.
OrthoDBEOG7KDF9G.
PhylomeDBQ6NXP0.
TreeFamTF336894.

Gene expression databases

ArrayExpressQ6NXP0.
BgeeQ6NXP0.
CleanExHS_C3orf25.
GenevestigatorQ6NXP0.

Family and domain databases

InterProIPR002048. EF_hand_dom.
[Graphical view]
PROSITEPS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi90288.
NextBio13630268.
PROQ6NXP0.

Entry information

Entry nameEFC12_HUMAN
AccessionPrimary (citable) accession number: Q6NXP0
Secondary accession number(s): Q69YX4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 89 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM