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

Gene ID: 83878, updated on 7-Apr-2024

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, Apr 2022]
Expression
Broad expression in fat (RPKM 5.8), lung (RPKM 4.1) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.11
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17249171..17264745, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17384049..17399626, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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 (19) 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)

Genotypes

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

    See identical proteins and their annotated locations for NP_114147.2

    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_2023_10

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

    See identical proteins and their annotated locations for XP_011526653.1

    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

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