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Protein

EF-hand calcium-binding domain-containing protein 12

Gene

EFCAB12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi206 – 21712PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 12
Gene namesi
Name:EFCAB12
Synonyms:C3orf25
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:28061. EFCAB12.

Pathology & Biotechi

Polymorphism and mutation databases

BioMutaiEFCAB12.
DMDMi74736979.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 572572EF-hand calcium-binding domain-containing protein 12PRO_0000238660Add
BLAST

Proteomic databases

PaxDbiQ6NXP0.
PRIDEiQ6NXP0.

PTM databases

PhosphoSiteiQ6NXP0.

Expressioni

Gene expression databases

BgeeiQ6NXP0.
CleanExiHS_C3orf25.
ExpressionAtlasiQ6NXP0. baseline and differential.
GenevestigatoriQ6NXP0.

Organism-specific databases

HPAiHPA037694.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FHL3Q136433EBI-10251535,EBI-741101

Protein-protein interaction databases

IntActiQ6NXP0. 1 interaction.
STRINGi9606.ENSP00000324241.

Structurei

3D structure databases

ProteinModelPortaliQ6NXP0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini196 – 23136EF-handPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 EF-hand domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG70703.
GeneTreeiENSGT00390000014874.
HOGENOMiHOG000111362.
HOVERGENiHBG081006.
InParanoidiQ6NXP0.
OMAiTITMDIL.
OrthoDBiEOG7KDF9G.
PhylomeDBiQ6NXP0.
TreeFamiTF336894.

Family and domain databases

InterProiIPR002048. EF_hand_dom.
[Graphical view]
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6NXP0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDDDYEAYHS LFLSLLGLCP SKTPINENAP VFDPEPVIAH CFKQFQQKDF
60 70 80 90 100
RLPQTRRRII MVPRKEDQTP LNPASQPQAP PKPIPSFKVL EARDIQEQPE
110 120 130 140 150
DRKTWLSQRS KLRQELESFG DVKRWLENKP SITPSEAKVL HMIHEEQSAQ
160 170 180 190 200
PNASQATTRT TRKKAPRLSR LSRQMVPQLQ LPEPPALSVM YSYLHSRKIK
210 220 230 240 250
ILEIFHKVGQ GENQRITREE FIAAVKAVGV PLKNQEVEDI VIYLSSLGKH
260 270 280 290 300
NTITMDILAN TYKQWSMAQQ RSSLATAREH YILAKHRDSL KGPLKKQEVD
310 320 330 340 350
SAPQLPKVDL LTVPAVDTQM ETRPMTLEEM EEVGKRYRER QRQHKLTIPS
360 370 380 390 400
IQYTEQCHLV RCGNRHFDEH CLPSTIHGDM RELIDSARRH NFLVYLQCWK
410 420 430 440 450
LCKSYGLPLT EDILMKALLY PGDKIIFQMD KVCPIRQPGG YYSDWKVFSP
460 470 480 490 500
NLALLRSQGP GKSKRTDKKT PKKSKKMRFK EFEEFTRKLK VKRSSGLQQT
510 520 530 540 550
HPNSFWPGHL LDKLQLYLPT VATDRSLALF SCVQHQPHVY PATYHPDHWW
560 570
PLRNKNYMTH AHYDAAKVYY IN
Length:572
Mass (Da):66,551
Last modified:July 5, 2004 - v1
Checksum:i7F2695D741E83A17
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361P → L.
Corresponds to variant rs58932597 [ dbSNP | Ensembl ].
VAR_061089
Natural varianti66 – 661E → G.
Corresponds to variant rs3774787 [ dbSNP | Ensembl ].
VAR_033697
Natural varianti215 – 2151R → G.
Corresponds to variant rs6790768 [ dbSNP | Ensembl ].
VAR_048667
Natural varianti280 – 2801H → R.
Corresponds to variant rs9836111 [ dbSNP | Ensembl ].
VAR_061090
Natural varianti541 – 5411P → S.
Corresponds to variant rs12637267 [ dbSNP | Ensembl ].
VAR_048668

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC066975 mRNA. Translation: AAH66975.1.
AL133011 mRNA. Translation: CAH10712.1.
CCDSiCCDS54638.1.
RefSeqiNP_997190.1. NM_207307.1.
UniGeneiHs.652347.

Genome annotation databases

EnsembliENST00000326085; ENSP00000324241; ENSG00000172771.
ENST00000505956; ENSP00000420854; ENSG00000172771.
GeneIDi90288.
KEGGihsa:90288.
UCSCiuc003emg.3. human.

Polymorphism and mutation databases

BioMutaiEFCAB12.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC066975 mRNA. Translation: AAH66975.1.
AL133011 mRNA. Translation: CAH10712.1.
CCDSiCCDS54638.1.
RefSeqiNP_997190.1. NM_207307.1.
UniGeneiHs.652347.

3D structure databases

ProteinModelPortaliQ6NXP0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ6NXP0. 1 interaction.
STRINGi9606.ENSP00000324241.

PTM databases

PhosphoSiteiQ6NXP0.

Polymorphism and mutation databases

BioMutaiEFCAB12.
DMDMi74736979.

Proteomic databases

PaxDbiQ6NXP0.
PRIDEiQ6NXP0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326085; ENSP00000324241; ENSG00000172771.
ENST00000505956; ENSP00000420854; ENSG00000172771.
GeneIDi90288.
KEGGihsa:90288.
UCSCiuc003emg.3. human.

Organism-specific databases

CTDi90288.
GeneCardsiGC03M129122.
H-InvDBHIX0200500.
HGNCiHGNC:28061. EFCAB12.
HPAiHPA037694.
neXtProtiNX_Q6NXP0.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG70703.
GeneTreeiENSGT00390000014874.
HOGENOMiHOG000111362.
HOVERGENiHBG081006.
InParanoidiQ6NXP0.
OMAiTITMDIL.
OrthoDBiEOG7KDF9G.
PhylomeDBiQ6NXP0.
TreeFamiTF336894.

Miscellaneous databases

GenomeRNAii90288.
NextBioi13630268.
PROiQ6NXP0.

Gene expression databases

BgeeiQ6NXP0.
CleanExiHS_C3orf25.
ExpressionAtlasiQ6NXP0. baseline and differential.
GenevestigatoriQ6NXP0.

Family and domain databases

InterProiIPR002048. EF_hand_dom.
[Graphical view]
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 91-572.
    Tissue: Testis.

Entry informationi

Entry nameiEFC12_HUMAN
AccessioniPrimary (citable) accession number: Q6NXP0
Secondary accession number(s): Q69YX4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: July 5, 2004
Last modified: April 29, 2015
This is version 93 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 3
    Human chromosome 3: 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

External Data

Dasty 3

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 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.