Human Gene ANXA6 (ENST00000354546.10_10) from GENCODE V47lift37
  Description: annexin A6, transcript variant 1 (from RefSeq NM_001155.5)
Gencode Transcript: ENST00000354546.10_10
Gencode Gene: ENSG00000197043.15_13
Transcript (Including UTRs)
   Position: hg19 chr5:150,480,267-150,537,340 Size: 57,074 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chr5:150,481,009-150,527,462 Size: 46,454 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:150,480,267-150,537,340)mRNA (may differ from genome)Protein (673 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANXA6_HUMAN
DESCRIPTION: RecName: Full=Annexin A6; AltName: Full=67 kDa calelectrin; AltName: Full=Annexin VI; AltName: Full=Annexin-6; AltName: Full=Calphobindin-II; Short=CPB-II; AltName: Full=Chromobindin-20; AltName: Full=Lipocortin VI; AltName: Full=Protein III; AltName: Full=p68; AltName: Full=p70;
FUNCTION: May associate with CD21. May regulate the release of Ca(2+) from intracellular stores.
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
INDUCTION: By Epstein-Barr virus (EBV).
DOMAIN: A pair of annexin repeats may form one binding site for calcium and phospholipid.
PTM: Phosphorylated in response to growth factor stimulation.
MISCELLANEOUS: Seems to bind one calcium ion with high affinity.
SIMILARITY: Belongs to the annexin family.
SIMILARITY: Contains 8 annexin repeats.

-  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: ANXA6
Diseases sorted by gene-association score: neonatal lupus erythematosus (3), papillary hidradenoma (2)

-  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: 194.79 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 2825.17 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 -50.80125-0.406 Picture PostScript Text
3' UTR -249.60742-0.336 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
IPR001464 - Annexin
IPR018502 - Annexin_repeat
IPR018252 - Annexin_repeat_CS
IPR002393 - AnnexinVI

Pfam Domains:
PF00191 - Annexin

SCOP Domains:
47874 - Annexin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1M9I - X-ray


ModBase Predicted Comparative 3D Structure on P08133
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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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0005544 calcium-dependent phospholipid binding
GO:0008289 lipid binding
GO:0015276 ligand-gated ion channel activity
GO:0015485 cholesterol binding
GO:0042803 protein homodimerization activity
GO:0048306 calcium-dependent protein binding

Biological Process:
GO:0006816 calcium ion transport
GO:0006937 regulation of muscle contraction
GO:0034220 ion transmembrane transport
GO:0051260 protein homooligomerization
GO:0051560 mitochondrial calcium ion homeostasis
GO:0097190 apoptotic signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005765 lysosomal membrane
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0031902 late endosome membrane
GO:0042470 melanosome
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  HM005611 - Homo sapiens clone HTL-S-198a testis secretory sperm-binding protein Li 198a mRNA, complete cds.
BC017046 - Homo sapiens annexin A6, mRNA (cDNA clone MGC:9227 IMAGE:3912460), complete cds.
Y00097 - Human mRNA for protein p68.
AK303078 - Homo sapiens cDNA FLJ53686 complete cds, highly similar to Annexin A6.
D00510 - Homo sapiens mRNA for calphobindin II, complete cds.
J03578 - Human calelectrin mRNA, complete cds.
AK126836 - Homo sapiens cDNA FLJ44888 fis, clone BRAMY2041384, highly similar to Annexin VI.
AK130077 - Homo sapiens cDNA FLJ26567 fis, clone LNF05260, highly similar to Annexin VI.
JD372184 - Sequence 353208 from Patent EP1572962.
JD391364 - Sequence 372388 from Patent EP1572962.
JD147675 - Sequence 128699 from Patent EP1572962.
JD366881 - Sequence 347905 from Patent EP1572962.
JD132225 - Sequence 113249 from Patent EP1572962.
JD493252 - Sequence 474276 from Patent EP1572962.
JD507740 - Sequence 488764 from Patent EP1572962.
JD434490 - Sequence 415514 from Patent EP1572962.
JD473076 - Sequence 454100 from Patent EP1572962.
AK290672 - Homo sapiens cDNA FLJ75116 complete cds, highly similar to Homo sapiens annexin A6, transcript variant 1, mRNA.
AK298582 - Homo sapiens cDNA FLJ53638 complete cds, highly similar to Annexin A6.
JD488949 - Sequence 469973 from Patent EP1572962.
JD474204 - Sequence 455228 from Patent EP1572962.
JD115079 - Sequence 96103 from Patent EP1572962.
JD209083 - Sequence 190107 from Patent EP1572962.
DQ891610 - Synthetic construct clone IMAGE:100004240; FLH178609.01X; RZPDo839F01128D annexin A6 (ANXA6) gene, encodes complete protein.
EU176589 - Synthetic construct Homo sapiens clone IMAGE:100011420; FLH178608.01L; RZPDo839F02254D annexin A6 (ANXA6) gene, encodes complete protein.
KU177903 - Homo sapiens annexin A6 isoform 1 (ANXA6) mRNA, partial cds.
KU177904 - Homo sapiens annexin A6 isoform 3 (ANXA6) mRNA, partial cds, alternatively spliced.
KU177905 - Homo sapiens annexin A6 isoform 4 (ANXA6) mRNA, complete cds, alternatively spliced.
KJ890677 - Synthetic construct Homo sapiens clone ccsbBroadEn_00071 ANXA6 gene, encodes complete protein.
AB528411 - Synthetic construct DNA, clone: pF1KE0922, Homo sapiens ANXA6 gene for annexin A6, without stop codon, in Flexi system.
JD020350 - Sequence 1374 from Patent EP1572962.
JD031139 - Sequence 12163 from Patent EP1572962.
CU677809 - Synthetic construct Homo sapiens gateway clone IMAGE:100020004 5' read ANXA6 mRNA.
JD019574 - Sequence 598 from Patent EP1572962.
JD029609 - Sequence 10633 from Patent EP1572962.

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

Protein P08133 (Reactome details) participates in the following event(s):

R-HSA-5263628 CAV3:TRIM72:DYSF binds ANXAs
R-HSA-445355 Smooth Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: ANX6, ANXA6_HUMAN, B7Z8A7, D3DQH4, E9PGK1, ENST00000354546.1, ENST00000354546.2, ENST00000354546.3, ENST00000354546.4, ENST00000354546.5, ENST00000354546.6, ENST00000354546.7, ENST00000354546.8, ENST00000354546.9, NM_001155, P08133, Q6ZT79, uc317yrj.1, uc317yrj.2
UCSC ID: ENST00000354546.10_10
RefSeq Accession: NM_001155.5
Protein: P08133 (aka ANXA6_HUMAN or ANX6_HUMAN)

-  Gene Model Information
  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.