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    USHBP1 USH1 protein network component harmonin binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 83878, updated on 5-Jan-2025

    Summary

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    Official Symbol
    USHBP1provided by HGNC
    Official Full Name
    USH1 protein network component harmonin binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:24058
    See related
    Ensembl:ENSG00000130307 MIM:611810; AllianceGenome:HGNC:24058
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCC2; AIEBP
    Summary
    Enables PDZ domain binding activity. [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Broad expression in fat (RPKM 5.8), lung (RPKM 4.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See USHBP1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17249171..17264745, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17384049..17399626, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17359980..17375554, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17336955-17337629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17337630-17338303 Neighboring gene occludin/ELL domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10328 Neighboring gene nuclear receptor subfamily 2 group F member 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17350064-17350242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17356712-17357661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17358611-17359560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17359561-17360509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17372219-17372820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17373027-17373584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14261 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:17378029-17378740 Neighboring gene BRISC and BRCA1 A complex member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10334 Neighboring gene ankyrin repeat and LEM domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75. Ishikawa S, et al. Gene, 2001 Apr 4. PMID 11311560
    2. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
    3. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967, Free PMC Article
    4. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38709, FLJ90681

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    harmonin-binding protein USHBP1
    Names
    AIE-75-binding protein
    USH1C-binding protein 1
    Usher syndrome 1C binding protein 1
    mutated in colon cancer protein 2
    usher syndrome type-1C protein-binding protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001297703.2 → NP_001284632.1  harmonin-binding protein USHBP1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks an altenate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA551913, AC010646, AK292031, AK300617, DA589997
      Consensus CDS
      CCDS77256.1
      UniProtKB/TrEMBL
      B4DUE8, G8JLM4
      Related
      ENSP00000407902.2, ENST00000431146.6
      Conserved Domains (1) summary
      pfam10506
      Location:235 → 299
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome

    2. NM_001321417.2 → NP_001308346.1  harmonin-binding protein USHBP1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variant 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AA551913, AC010646, AC104522, AK075162
      Consensus CDS
      CCDS12353.1
      UniProtKB/Swiss-Prot
      A8K7L6, B2RCR9, Q8N6Y0, Q8NBX7, Q96KH3, Q9BYI8
      UniProtKB/TrEMBL
      B4DUE8
      Conserved Domains (1) summary
      pfam10506
      Location:299 → 363
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome

    3. NM_031941.4 → NP_114147.2  harmonin-binding protein USHBP1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Both variant 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AB026290, AC010646, AC104522, BC027910
      Consensus CDS
      CCDS12353.1
      UniProtKB/Swiss-Prot
      A8K7L6, B2RCR9, Q8N6Y0, Q8NBX7, Q96KH3, Q9BYI8
      UniProtKB/TrEMBL
      B4DUE8
      Related
      ENSP00000252597.2, ENST00000252597.8
      Conserved Domains (1) summary
      pfam10506
      Location:299 → 363
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome

    RNA

    1. NR_135632.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA551913, AC010646, AC104522, AK096028, DA589997

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17249171..17264745 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528351.4 → XP_011526653.1  harmonin-binding protein USHBP1 isoform X1

      UniProtKB/TrEMBL
      Q8N8Y1
      Related
      ENSP00000324174.5, ENST00000324554.9
      Conserved Domains (1) summary
      pfam10506
      Location:299 → 348
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17384049..17399626 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322301.1 → XP_054178276.1  harmonin-binding protein USHBP1 isoform X1

      UniProtKB/TrEMBL
      Q8N8Y1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6Y0.1 GenPept UniProtKB/Swiss-Prot:Q8N6Y0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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