Human Gene USHBP1 (uc002nfs.1) Description and Page Index
  Description: Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr19:17,360,849-17,375,544 Size: 14,696 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr19:17,361,034-17,375,108 Size: 14,075 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr19:17,360,849-17,375,544)mRNA (may differ from genome)Protein (703 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Usher syndrome type-1C protein-binding protein 1; Short=USH1C-binding protein 1; AltName: Full=AIE-75-binding protein; AltName: Full=MCC-2; AltName: Full=Mutated in colon cancer protein 2;
SUBUNIT: Interacts via its C-terminus with the first PDZ domain of USH1C.
INTERACTION: O15155:BET1; NbExp=2; IntAct=EBI-739895, EBI-749204; Q8IYI6:EXOC8; NbExp=2; IntAct=EBI-739895, EBI-742102; Q9BVI4:NOC4L; NbExp=2; IntAct=EBI-739895, EBI-395927; Q9UJW9:SERTAD3; NbExp=4; IntAct=EBI-739895, EBI-748621;
TISSUE SPECIFICITY: Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung.
SIMILARITY: Belongs to the MCC family.
SEQUENCE CAUTION: Sequence=BAC11443.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: USHBP1
Diseases sorted by gene-association score: usher syndrome, type 1c (18), usher syndrome (8)

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.92 RPKM in Breast - Mammary Tissue
Total median expression: 90.84 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 -38.30113-0.339 Picture PostScript Text
3' UTR -73.80185-0.399 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
IPR019536 - USH1C-bd_PDZ_domain

Pfam Domains:
PF10506 - PDZ domain of MCC-2 bdg protein for Usher syndrome

ModBase Predicted Comparative 3D Structure on Q8N6Y0
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030165 PDZ domain binding

-  Descriptions from all associated GenBank mRNAs
  AK075162 - Homo sapiens cDNA FLJ90681 fis, clone PLACE1005815, weakly similar to COLORECTAL MUTANT CANCER PROTEIN.
AK292031 - Homo sapiens cDNA FLJ78457 complete cds, highly similar to Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.
BC027910 - Homo sapiens Usher syndrome 1C binding protein 1, mRNA (cDNA clone MGC:34110 IMAGE:5207170), complete cds.
JD232443 - Sequence 213467 from Patent EP1572962.
JD233995 - Sequence 215019 from Patent EP1572962.
JD502531 - Sequence 483555 from Patent EP1572962.
AK300617 - Homo sapiens cDNA FLJ59431 complete cds, highly similar to Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.
AB026290 - Homo sapiens mRNA for AIEBP, complete cds.
AB040046 - Homo sapiens mRNA for MCC2-68, complete cds.
AK096028 - Homo sapiens cDNA FLJ38709 fis, clone KIDNE2002883.
AK315239 - Homo sapiens cDNA, FLJ96241, highly similar to Homo sapiens AIE-75 binding protein protein (MCC2), mRNA.
JD185667 - Sequence 166691 from Patent EP1572962.
JD173281 - Sequence 154305 from Patent EP1572962.
JD440500 - Sequence 421524 from Patent EP1572962.
JD219059 - Sequence 200083 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AIEBP, MCC2, NM_031941, NP_114147, Q8N6Y0, Q8NBX7, Q96KH3, Q9BYI8, USBP1_HUMAN
UCSC ID: uc002nfs.1
RefSeq Accession: NM_031941
Protein: Q8N6Y0 (aka USBP1_HUMAN)
CCDS: CCDS12353.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_031941.3
exon count: 13CDS single in 3' UTR: no RNA size: 2410
ORF size: 2112CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4424.00frame 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.