Human Gene EFCAB7 (uc001dbf.3)
  Description: Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:63,989,013-64,038,364 Size: 49,352 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr1:63,991,244-64,038,187 Size: 46,944 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:63,989,013-64,038,364)mRNA (may differ from genome)Protein (629 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EFCB7_HUMAN
DESCRIPTION: RecName: Full=EF-hand calcium-binding domain-containing protein 7;
SIMILARITY: Contains 3 EF-hand domains.
SEQUENCE CAUTION: Sequence=BAB47428.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EFCAB7
Diseases sorted by gene-association score: ellis-van creveld syndrome (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.57 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 90.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -104.00294-0.354 Picture PostScript Text
3' UTR -19.02177-0.107 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

Pfam Domains:
PF13202 - EF hand
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on A8K855
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0042307 positive regulation of protein import into nucleus
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1903569 positive regulation of protein localization to ciliary membrane

Cellular Component:
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0019898 extrinsic component of membrane
GO:0042995 cell projection
GO:0060170 ciliary membrane
GO:0098797 plasma membrane protein complex


-  Descriptions from all associated GenBank mRNAs
  KJ901077 - Synthetic construct Homo sapiens clone ccsbBroadEn_10471 EFCAB7 gene, encodes complete protein.
LF206527 - JP 2014500723-A/14030: Polycomb-Associated Non-Coding RNAs.
AK292220 - Homo sapiens cDNA FLJ75001 complete cds.
AK092219 - Homo sapiens cDNA FLJ34900 fis, clone NT2NE2019091, weakly similar to CALMODULIN.
AK315850 - Homo sapiens cDNA, FLJ79499 complete cds.
AB058702 - Homo sapiens mRNA for KIAA1799 protein, partial cds.
BC015814 - Homo sapiens EF-hand calcium binding domain 7, mRNA (cDNA clone MGC:9635 IMAGE:3915942), complete cds.
CU677465 - Synthetic construct Homo sapiens gateway clone IMAGE:100019963 5' read KIAA1799 mRNA.
AB587465 - Synthetic construct DNA, clone: pF1KB8431, Homo sapiens KIAA1799 gene for EF-hand calcium binding domain 7, without stop codon, in Flexi system.
AM392639 - Synthetic construct Homo sapiens clone IMAGE:100002633 for hypothetical protein (KIAA1799 gene).
AM392785 - Synthetic construct Homo sapiens clone IMAGE:100002634 for hypothetical protein (KIAA1799 gene).
AM393092 - Synthetic construct Homo sapiens clone IMAGE:100002898 for hypothetical protein (KIAA1799 gene).
AM393377 - Synthetic construct Homo sapiens clone IMAGE:100002899 for hypothetical protein (KIAA1799 gene).
AL833720 - Homo sapiens mRNA; cDNA DKFZp666D225 (from clone DKFZp666D225).
MA442104 - JP 2018138019-A/14030: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein A8K855 (Reactome details) participates in the following event(s):

R-HSA-5633051 EFCAB7:IQCE binds EVC2:EVC
R-HSA-5635838 Activation of SMO
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5358351 Signaling by Hedgehog
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K855, EFCB7_HUMAN, KIAA1799, NM_032437, NP_115813, Q658P0, Q96B95, Q96JM6
UCSC ID: uc001dbf.3
RefSeq Accession: NM_032437
Protein: A8K855 (aka EFCB7_HUMAN)
CCDS: CCDS30737.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032437.2
exon count: 14CDS single in 3' UTR: no RNA size: 2376
ORF size: 1890CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3938.00frame shift in genome: no % Coverage: 99.37
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.