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Aliases for USHBP1 Gene

Aliases for USHBP1 Gene

  • Usher Syndrome 1C Binding Protein 1 2 3
  • Mutated In Colon Cancer Protein 2 3 4
  • USH1C-Binding Protein 1 3 4
  • AIE-75-Binding Protein 3 4
  • AIEBP 3 4
  • MCC2 3 4
  • MCC-2 4

External Ids for USHBP1 Gene

Previous GeneCards Identifiers for USHBP1 Gene

  • GC19M017222
  • GC19M017223
  • GC19M017360
  • GC19M016927

Summaries for USHBP1 Gene

GeneCards Summary for USHBP1 Gene

USHBP1 (Usher Syndrome 1C Binding Protein 1) is a Protein Coding gene. Diseases associated with USHBP1 include usher syndrome, type 1c and usher syndrome. GO annotations related to this gene include PDZ domain binding. An important paralog of this gene is MCC.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USHBP1 Gene

Genomics for USHBP1 Gene

Regulatory Elements for USHBP1 Gene

Genomic Location for USHBP1 Gene

Chromosome:
19
Start:
17,249,176 bp from pter
End:
17,282,786 bp from pter
Size:
33,611 bases
Orientation:
Minus strand

Genomic View for USHBP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for USHBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USHBP1 Gene

Proteins for USHBP1 Gene

  • Protein details for USHBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6Y0-USBP1_HUMAN
    Recommended name:
    Usher syndrome type-1C protein-binding protein 1
    Protein Accession:
    Q8N6Y0
    Secondary Accessions:
    • A8K7L6
    • B2RCR9
    • Q8NBX7
    • Q96KH3
    • Q9BYI8

    Protein attributes for USHBP1 Gene

    Size:
    703 amino acids
    Molecular mass:
    76068 Da
    Quaternary structure:
    • Interacts via its C-terminus with the first PDZ domain of USH1C.
    SequenceCaution:
    • Sequence=BAC11443.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for USHBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USHBP1 Gene

Proteomics data for USHBP1 Gene at MOPED

Post-translational modifications for USHBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for USHBP1 Gene

No data available for DME Specific Peptides for USHBP1 Gene

Domains & Families for USHBP1 Gene

Protein Domains for USHBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for USHBP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N6Y0

UniProtKB/Swiss-Prot:

USBP1_HUMAN :
  • Belongs to the MCC family.
Family:
  • Belongs to the MCC family.
genes like me logo Genes that share domains with USHBP1: view

No data available for Gene Families for USHBP1 Gene

Function for USHBP1 Gene

Gene Ontology (GO) - Molecular Function for USHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0030165 PDZ domain binding IPI 11311560
genes like me logo Genes that share ontologies with USHBP1: view
genes like me logo Genes that share phenotypes with USHBP1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for USHBP1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for USHBP1 Gene

Localization for USHBP1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for USHBP1 Gene

Pathways & Interactions for USHBP1 Gene

SuperPathways for USHBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for USHBP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for USHBP1 Gene

Drugs & Compounds for USHBP1 Gene

No Compound Related Data Available

Transcripts for USHBP1 Gene

Unigene Clusters for USHBP1 Gene

Usher syndrome 1C binding protein 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for USHBP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for USHBP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - -
SP5: -
SP6:

Relevant External Links for USHBP1 Gene

GeneLoc Exon Structure for
USHBP1
ECgene alternative splicing isoforms for
USHBP1

Expression for USHBP1 Gene

mRNA expression in normal human tissues for USHBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USHBP1 Gene

This gene is overexpressed in Thyroid (41.1) and Placenta (24.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for USHBP1 Gene



SOURCE GeneReport for Unigene cluster for USHBP1 Gene Hs.512773

mRNA Expression by UniProt/SwissProt for USHBP1 Gene

Q8N6Y0-USBP1_HUMAN
Tissue specificity: Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung.
genes like me logo Genes that share expression patterns with USHBP1: view

Protein tissue co-expression partners for USHBP1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for USHBP1 Gene

Orthologs for USHBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for USHBP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia USHBP1 35
  • 80.56 (n)
  • 76.65 (a)
USHBP1 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia USHBP1 35
  • 80.7 (n)
  • 75.53 (a)
USHBP1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ushbp1 35
  • 71.16 (n)
  • 62.88 (a)
Ushbp1 16
Ushbp1 36
  • 59 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia USHBP1 35
  • 98.81 (n)
  • 97.72 (a)
USHBP1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ushbp1 35
  • 72.16 (n)
  • 64.8 (a)
oppossum
(Monodelphis domestica)
Mammalia USHBP1 36
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USHBP1 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USHBP1 36
  • 31 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100148935 35
  • 45.56 (n)
  • 33.78 (a)
CT573239.1 36
  • 23 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34404 36
  • 14 (a)
OneToMany
Species with no ortholog for USHBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for USHBP1 Gene

ENSEMBL:
Gene Tree for USHBP1 (if available)
TreeFam:
Gene Tree for USHBP1 (if available)

Paralogs for USHBP1 Gene

Paralogs for USHBP1 Gene

(1) SIMAP similar genes for USHBP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with USHBP1: view

Variants for USHBP1 Gene

Sequence variations from dbSNP and Humsavar for USHBP1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1043963 - 17,250,307(-) GGTGG(C/T)GGTGC reference, missense, nc-transcript-variant
rs1465577 -- 17,263,698(+) tggca(A/C/G/T)gaccc intron-variant
rs3745167 -- 17,250,055(+) TTCTT(C/T)ATTGC utr-variant-3-prime, downstream-variant-500B
rs3745168 -- 17,250,069(+) GCCAC(A/G)CCCCA utr-variant-3-prime, downstream-variant-500B
rs4430871 -- 17,255,469(+) AGCTC(C/T)GCCCG reference, synonymous-codon, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for USHBP1 Gene

Variant ID Type Subtype PubMed ID
dgv3757n71 CNV Loss 21882294
dgv3758n71 CNV Loss 21882294
nsv911182 CNV Loss 21882294
nsv470129 CNV Loss 18288195
nsv911185 CNV Loss 21882294
nsv911186 CNV Gain 21882294
nsv911188 CNV Loss 21882294
nsv911189 CNV Loss 21882294
dgv3759n71 CNV Loss 21882294
dgv3760n71 CNV Loss 21882294
nsv911198 CNV Loss 21882294

Variation tolerance for USHBP1 Gene

Residual Variation Intolerance Score: 88.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.03; 90.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USHBP1 Gene

HapMap Linkage Disequilibrium report
USHBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USHBP1 Gene

Disorders for USHBP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for USHBP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
usher syndrome, type 1c
  • ush1c
usher syndrome
  • deafness-retinitis pigmentosa syndrome
- elite association

Relevant External Links for USHBP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USHBP1
genes like me logo Genes that share disorders with USHBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USHBP1 Gene

Publications for USHBP1 Gene

  1. Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75. (PMID: 11311560) Ishikawa S. … Moriuchi T. (Gene 2001) 2 23 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 67
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 67
  5. An empirical framework for binary interactome mapping. (PMID: 19060904) Venkatesan K. … Vidal M. (Nat. Methods 2009) 67

Products for USHBP1 Gene

Sources for USHBP1 Gene

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