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

Gene ID: 83878, updated on 20-Aug-2022

Summary

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

See USHBP1 in Genome Data Viewer
Location:
19p13.11
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17249171..17264745, complement)
110 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 occludin/ELL domain containing 1 Neighboring gene nuclear receptor subfamily 2 group F member 6 Neighboring gene BRISC and BRCA1 A complex member 1 Neighboring gene ankyrin repeat and LEM domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

Preferred Names
harmonin-binding protein USHBP1; Usher syndrome type-1C protein-binding protein 1
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_001297703.2NP_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/Swiss-Prot
    Q8N6Y0
    UniProtKB/TrEMBL
    B4DUE8, G8JLM4
    Related
    ENSP00000407902.2, ENST00000431146.6
    Conserved Domains (1) summary
    pfam10506
    Location:235299
    MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
  2. NM_001321417.2NP_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
    Q8N6Y0, Q9BYI8
    UniProtKB/TrEMBL
    A0A024R7H3
    Conserved Domains (1) summary
    pfam10506
    Location:299363
    MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
  3. NM_031941.4NP_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
    Q8N6Y0, Q9BYI8
    UniProtKB/TrEMBL
    A0A024R7H3
    Related
    ENSP00000252597.2, ENST00000252597.8
    Conserved Domains (1) summary
    pfam10506
    Location:299363
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011528351.4XP_011526653.1  Usher syndrome type-1C protein-binding protein 1 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:299348
    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)