Q6NXP0 (EFC12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
EF-hand calcium-binding domain-containing protein 12

Gene names

Name:	EFCAB12
Synonyms:	C3orf25

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	572 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 EF-hand domain.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Ligand	Calcium Metal-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 572	572	EF-hand calcium-binding domain-containing protein 12		PRO_0000238660
Regions
	Domain	196 – 231	36	EF-hand
	Calcium binding	206 – 217	12	Potential
Natural variations
	Natural variant	36	1	P → L. Corresponds to variant rs58932597 [ dbSNP | Ensembl ].		VAR_061089
	Natural variant	66	1	E → G. Corresponds to variant rs3774787 [ dbSNP | Ensembl ].		VAR_033697
	Natural variant	215	1	R → G. Corresponds to variant rs6790768 [ dbSNP | Ensembl ].		VAR_048667
	Natural variant	280	1	H → R. Corresponds to variant rs9836111 [ dbSNP | Ensembl ].		VAR_061090
	Natural variant	541	1	P → S. Corresponds to variant rs12637267 [ dbSNP | Ensembl ].		VAR_048668

Sequences

	Sequence		Length	Mass (Da)
	Q6NXP0 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 7F2695D741E83A17	FASTA	572	66,551
	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

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.
IPI	IPI00181214.
RefSeq	NP_997190.1. NM_207307.1.
UniGene	Hs.652347.
3D structure databases
ProteinModelPortal	Q6NXP0.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000324241.
PTM databases
PhosphoSite	Q6NXP0.
Polymorphism databases
DMDM	74736979.
Proteomic databases
PaxDb	Q6NXP0.
PRIDE	Q6NXP0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000326085; ENSP00000324241; ENSG00000172771. ENST00000505956; ENSP00000420854; ENSG00000172771.
GeneID	90288.
KEGG	hsa:90288.
UCSC	uc003emg.3. human.
Organism-specific databases
CTD	90288.
GeneCards	GC03M129122.
H-InvDB	HIX0200500.
HGNC	HGNC:28061. EFCAB12.
HPA	HPA037694.
neXtProt	NX_Q6NXP0.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG70703.
HOGENOM	HOG000111362.
HOVERGEN	HBG081006.
InParanoid	Q6NXP0.
OMA	DIQEQPE.
Gene expression databases
ArrayExpress	Q6NXP0.
Bgee	Q6NXP0.
CleanEx	HS_C3orf25.
Genevestigator	Q6NXP0.
GermOnline	ENSG00000172771. Homo sapiens.
Family and domain databases
InterPro	IPR002048. EF_hand_dom. [Graphical view]
PROSITE	PS00018. EF_HAND_1. False negative. PS50222. EF_HAND_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	90288.
NextBio	13630268.

Entry information

Entry name

EFC12_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.