Human Gene AJAP1 (uc001aln.3) Description and Page Index
  Description: Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:4,715,105-4,843,851 Size: 128,747 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr1:4,715,486-4,834,559 Size: 119,074 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:4,715,105-4,843,851)mRNA (may differ from genome)Protein (411 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: AJAP1_HUMAN
DESCRIPTION: RecName: Full=Adherens junction-associated protein 1; AltName: Full=Membrane protein shrew-1;
FUNCTION: Plays a role in cell adhesion and cell migration.
SUBUNIT: Forms a complex with CDH1 and CTNNB1; interacts directly with CTNNB1. Interacts with AP1M2 and BSG/CD147.
SUBCELLULAR LOCATION: Basolateral cell membrane; Single-pass type III membrane protein. Apical cell membrane; Single-pass type III membrane protein. Cell junction, adherens junction. Note=Mainly basolateral. Localization is mediated by AP1M2.
TISSUE SPECIFICITY: Expressed in uterus and pancreas (at protein level).
PTM: Thr-237 and Ser-239 may be phosphorylated; however as this position is probably extracellular, the in vivo relevance is not proven.
SEQUENCE CAUTION: Sequence=CAB41245.1; Type=Erroneous initiation; Sequence=CAB41246.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AJAP1
CDC HuGE Published Literature: AJAP1
Positive Disease Associations: Blood Pressure , Body Height , Diabetes Mellitus , Glucose , Hip , Metabolism , Platelet Count , Waist-Hip Ratio
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. Body Height
    Ozren Polasek et al. Croatian medical journal 2009, Genome-wide association study of anthropometric traits in Korcula Island, Croatia., Croatian medical journal. [PubMed 19260139]
    Although the study was underpowered for the reported associations to reach formal threshold of genome-wide significance under the assumption of independent multiple testing, the consistency of association between the 2 variants and a set of anthropometric traits makes CRIM1 and ITGA1 highly interesting for further replication and functional follow-up. Increased linkage disequilibrium between the used markers in an isolated population makes the formal significance threshold overly stringent, and changed allele frequencies in isolate population may contribute to identifying variants that would not be easily identified in large outbred populations.
  3. Diabetes Mellitus
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: AJAP1
Diseases sorted by gene-association score: dental caries (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 4.58 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 48.72 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -231.70381-0.608 Picture PostScript Text
3' UTR -401.721306-0.308 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
  Pfam Domains:
PF15298 - AJAP1/PANP C-terminus

ModBase Predicted Comparative 3D Structure on Q9UKB5
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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008013 beta-catenin binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0001953 negative regulation of cell-matrix adhesion
GO:0007155 cell adhesion
GO:0030860 regulation of polarized epithelial cell differentiation
GO:0061045 negative regulation of wound healing

Cellular Component:
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005913 cell-cell adherens junction
GO:0009898 cytoplasmic side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030054 cell junction
GO:0044214 spanning component of plasma membrane
GO:0044291 cell-cell contact zone


-  Descriptions from all associated GenBank mRNAs
  AF175409 - Homo sapiens MOT8 mRNA, complete cds.
AY282806 - Homo sapiens transmembrane protein SHREW1 mRNA, complete cds.
BC160124 - Synthetic construct Homo sapiens clone IMAGE:100064156, MGC:193239 adherens junctions associated protein 1 (AJAP1) mRNA, encodes complete protein.
JD076193 - Sequence 57217 from Patent EP1572962.
JD464337 - Sequence 445361 from Patent EP1572962.
JD460741 - Sequence 441765 from Patent EP1572962.
JD216833 - Sequence 197857 from Patent EP1572962.
JD407015 - Sequence 388039 from Patent EP1572962.
JD172743 - Sequence 153767 from Patent EP1572962.
JD408499 - Sequence 389523 from Patent EP1572962.
JD461117 - Sequence 442141 from Patent EP1572962.
JD369553 - Sequence 350577 from Patent EP1572962.
JD541673 - Sequence 522697 from Patent EP1572962.
AL049673 - Human gene from PAC 77N19, chromosome 1.
AL049672 - Human gene from PAC 77N19, chromosome 1.
AF052143 - Homo sapiens clone 24466 mRNA sequence.
JD337368 - Sequence 318392 from Patent EP1572962.
JD556977 - Sequence 538001 from Patent EP1572962.
JD316530 - Sequence 297554 from Patent EP1572962.
JD038772 - Sequence 19796 from Patent EP1572962.
JD168995 - Sequence 150019 from Patent EP1572962.
JD458218 - Sequence 439242 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AJAP1_HUMAN, MOT8, NM_018836, NP_061324, Q9UKB5, Q9Y229, SHREW1
UCSC ID: uc001aln.3
RefSeq Accession: NM_018836
Protein: Q9UKB5 (aka AJAP1_HUMAN)
CCDS: CCDS54.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: yes RNA accession: NM_018836.3
exon count: 6CDS single in 3' UTR: no RNA size: 2923
ORF size: 1236CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2155.00frame 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.