Human Gene ANXA1 (uc004ajf.1)
  Description: Homo sapiens annexin A1 (ANXA1), mRNA.
RefSeq Summary (NM_000700): This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014].
Transcript (Including UTRs)
   Position: hg19 chr9:75,766,781-75,785,307 Size: 18,527 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr9:75,773,452-75,785,023 Size: 11,572 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:75,766,781-75,785,307)mRNA (may differ from genome)Protein (346 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MalacardsMGIneXtProtOMIMPubMedReactome
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANXA1_HUMAN
DESCRIPTION: RecName: Full=Annexin A1; AltName: Full=Annexin I; AltName: Full=Annexin-1; AltName: Full=Calpactin II; AltName: Full=Calpactin-2; AltName: Full=Chromobindin-9; AltName: Full=Lipocortin I; AltName: Full=Phospholipase A2 inhibitory protein; AltName: Full=p35;
FUNCTION: Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. This protein regulates phospholipase A2 activity. It seems to bind from two to four calcium ions with high affinity.
SUBUNIT: Homodimer in placenta (20%); linked by transglutamylation. Interacts with DYSF (By similarity).
INTERACTION: Q9Y6K9:IKBKG; NbExp=6; IntAct=EBI-354007, EBI-81279; Q13546:RIPK1; NbExp=5; IntAct=EBI-354007, EBI-358507;
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity). Cell projection, cilium (By similarity). Basolateral cell membrane (By similarity). Note=Found in the cilium, nucleus and basolateral cell membrane of ciliated cells in the tracheal endothelium (By similarity). Found in the cytoplasm of type II pneumocytes and alveolar macrophages (By similarity).
DOMAIN: A pair of annexin repeats may form one binding site for calcium and phospholipid.
PTM: Phosphorylated by protein kinase C, epidermal growth factor receptor/kinase and TRPM7. Phosphorylation results in loss of the inhibitory activity.
SIMILARITY: Belongs to the annexin family.
SIMILARITY: Contains 4 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANXA1
CDC HuGE Published Literature: ANXA1
Positive Disease Associations: Blood Pressure , Body Height , Body Mass Index , Cholesterol, HDL , Cholesterol, LDL , Creatinine , diabetes, type 2 , Erythrocytes , Glomerular Filtration Rate , Glucose , Heart Failure , HIV-1 , Lipids , Pancreatic Neoplasms , Triglycerides , Waist Circumference
Related Studies:
  1. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  2. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  3. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ANXA1
Diseases sorted by gene-association score: hairy cell leukemia (7), brain edema (5), rheumatoid arthritis (3), lung cancer susceptibility 3 (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: 1575.88 RPKM in Esophagus - Mucosa
Total median expression: 3748.44 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 -15.2074-0.205 Picture PostScript Text
3' UTR -44.39284-0.156 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
IPR002388 - AnnexinI

Pfam Domains:
PF00191 - Annexin

SCOP Domains:
47874 - Annexin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1AIN - X-ray MuPIT 1BO9 - NMR MuPIT 1QLS - X-ray


ModBase Predicted Comparative 3D Structure on P04083
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-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003697 single-stranded DNA binding
GO:0003727 single-stranded RNA binding
GO:0004859 phospholipase inhibitor activity
GO:0005102 receptor binding
GO:0005198 structural molecule activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0005544 calcium-dependent phospholipid binding
GO:0019834 phospholipase A2 inhibitor activity
GO:0030674 protein binding, bridging
GO:0033676 double-stranded DNA-dependent ATPase activity
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0048306 calcium-dependent protein binding
GO:0098641 cadherin binding involved in cell-cell adhesion
GO:1990814 DNA/DNA annealing activity

Biological Process:
GO:0001780 neutrophil homeostasis
GO:0002250 adaptive immune response
GO:0002376 immune system process
GO:0002548 monocyte chemotaxis
GO:0002685 regulation of leukocyte migration
GO:0006909 phagocytosis
GO:0006954 inflammatory response
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
GO:0008360 regulation of cell shape
GO:0009725 response to hormone
GO:0010165 response to X-ray
GO:0014070 response to organic cyclic compound
GO:0014839 myoblast migration involved in skeletal muscle regeneration
GO:0018149 peptide cross-linking
GO:0019221 cytokine-mediated signaling pathway
GO:0030073 insulin secretion
GO:0030216 keratinocyte differentiation
GO:0030850 prostate gland development
GO:0031018 endocrine pancreas development
GO:0031340 positive regulation of vesicle fusion
GO:0031394 positive regulation of prostaglandin biosynthetic process
GO:0031532 actin cytoskeleton reorganization
GO:0031960 response to corticosteroid
GO:0032355 response to estradiol
GO:0032508 DNA duplex unwinding
GO:0032652 regulation of interleukin-1 production
GO:0032743 positive regulation of interleukin-2 production
GO:0033031 positive regulation of neutrophil apoptotic process
GO:0035924 cellular response to vascular endothelial growth factor stimulus
GO:0042063 gliogenesis
GO:0042102 positive regulation of T cell proliferation
GO:0042127 regulation of cell proliferation
GO:0042493 response to drug
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043434 response to peptide hormone
GO:0044849 estrous cycle
GO:0045087 innate immune response
GO:0045627 positive regulation of T-helper 1 cell differentiation
GO:0045629 negative regulation of T-helper 2 cell differentiation
GO:0045920 negative regulation of exocytosis
GO:0046632 alpha-beta T cell differentiation
GO:0046883 regulation of hormone secretion
GO:0050482 arachidonic acid secretion
GO:0050709 negative regulation of protein secretion
GO:0050727 regulation of inflammatory response
GO:0051384 response to glucocorticoid
GO:0070301 cellular response to hydrogen peroxide
GO:0070365 hepatocyte differentiation
GO:0070459 prolactin secretion
GO:0070555 response to interleukin-1
GO:0071385 cellular response to glucocorticoid stimulus
GO:0071621 granulocyte chemotaxis
GO:0090050 positive regulation of cell migration involved in sprouting angiogenesis
GO:0090303 positive regulation of wound healing
GO:0097350 neutrophil clearance
GO:0098609 cell-cell adhesion
GO:1900087 positive regulation of G1/S transition of mitotic cell cycle
GO:1900138 negative regulation of phospholipase A2 activity
GO:2000483 negative regulation of interleukin-8 secretion

Cellular Component:
GO:0001533 cornified envelope
GO:0001891 phagocytic cup
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005913 cell-cell adherens junction
GO:0005925 focal adhesion
GO:0005929 cilium
GO:0009986 cell surface
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0019898 extrinsic component of membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031232 extrinsic component of external side of plasma membrane
GO:0031313 extrinsic component of endosome membrane
GO:0031410 cytoplasmic vesicle
GO:0031514 motile cilium
GO:0031901 early endosome membrane
GO:0031966 mitochondrial membrane
GO:0031982 vesicle
GO:0032991 macromolecular complex
GO:0042383 sarcolemma
GO:0042629 mast cell granule
GO:0042995 cell projection
GO:0070062 extracellular exosome
GO:0005884 actin filament


-  Descriptions from all associated GenBank mRNAs
  AK311684 - Homo sapiens cDNA, FLJ18726.
AK296808 - Homo sapiens cDNA FLJ51887 complete cds, highly similar to Annexin A1.
BC035993 - Homo sapiens annexin A1, mRNA (cDNA clone MGC:32774 IMAGE:4662939), complete cds.
X05908 - Homo sapiens mRNA for lipocortin.
BC001275 - Homo sapiens annexin A1, mRNA (cDNA clone MGC:5095 IMAGE:3459615), complete cds.
JD298475 - Sequence 279499 from Patent EP1572962.
AK074480 - Homo sapiens cDNA FLJ23900 fis, clone LNG15486, highly similar to ANNEXIN I.
KJ896427 - Synthetic construct Homo sapiens clone ccsbBroadEn_05821 ANXA1 gene, encodes complete protein.
KJ896428 - Synthetic construct Homo sapiens clone ccsbBroadEn_05822 ANXA1 gene, encodes complete protein.
CU690250 - Synthetic construct Homo sapiens gateway clone IMAGE:100022209 5' read ANXA1 mRNA.
CU674640 - Synthetic construct Homo sapiens gateway clone IMAGE:100019041 5' read ANXA1 mRNA.
AB451401 - Homo sapiens ANXA1 mRNA for annexin I, partial cds, clone: FLJ08104AAAF.
AB529026 - Synthetic construct DNA, clone: pF1KB3392, Homo sapiens ANXA1 gene for annexin A1, without stop codon, in Flexi system.
CR407684 - Homo sapiens full open reading frame cDNA clone RZPDo834D053D for gene ANXA1, annexin A1 complete cds, without stopcodon.
DQ894338 - Synthetic construct Homo sapiens clone IMAGE:100008798; FLH169842.01L; RZPDo839G1095D annexin A1 (ANXA1) gene, encodes complete protein.
BT019896 - Homo sapiens annexin A1 mRNA, complete cds.
BT019916 - Homo sapiens annexin A1 mRNA, complete cds.
BT019917 - Homo sapiens annexin A1 mRNA, complete cds.
DQ891173 - Synthetic construct clone IMAGE:100003803; FLH169846.01X; RZPDo839G1096D annexin A1 (ANXA1) gene, encodes complete protein.
AB451274 - Homo sapiens ANXA1 mRNA for annexin I, complete cds, clone: FLJ08104AAAN.
GQ891377 - Homo sapiens clone HEL-S-172n epididymis secretory sperm binding protein mRNA, complete cds.
E01979 - DNA encoding new human lipocortin.
BC018683 - Homo sapiens annexin A1, mRNA (cDNA clone IMAGE:4692693), with apparent retained intron.
BC034157 - Homo sapiens annexin A1, mRNA (cDNA clone IMAGE:4733055), complete cds.
JD299983 - Sequence 281007 from Patent EP1572962.
JD362953 - Sequence 343977 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_gcrPathway - Corticosteroids and cardioprotection

Reactome (by CSHL, EBI, and GO)

Protein P04083 (Reactome details) participates in the following event(s):

R-HSA-5263628 CAV3:TRIM72:DYSF binds ANXAs
R-HSA-391913 FPR2 binds FPR2 ligands
R-HSA-444476 FPRL2 receptor binds a wide range of ligands
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-445355 Smooth Muscle Contraction
R-HSA-444473 Formyl peptide receptors bind formyl peptides and many other ligands
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-397014 Muscle contraction
R-HSA-418594 G alpha (i) signalling events
R-HSA-416476 G alpha (q) signalling events
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-449147 Signaling by Interleukins
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ANX1, ANXA1_HUMAN, LPC1, NM_000700, NP_000691, P04083
UCSC ID: uc004ajf.1
RefSeq Accession: NM_000700
Protein: P04083 (aka ANXA1_HUMAN or ANX1_HUMAN)
CCDS: CCDS6645.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000700.1
exon count: 13CDS single in 3' UTR: no RNA size: 1399
ORF size: 1041CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 2282.00frame shift in genome: no % Coverage: 100.00
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.