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USF3 upstream transcription factor family member 3 [ Homo sapiens (human) ]

Gene ID: 205717, updated on 26-Nov-2021

Summary

Official Symbol
USF3provided by HGNC
Official Full Name
upstream transcription factor family member 3provided by HGNC
Primary source
HGNC:HGNC:30494
See related
Ensembl:ENSG00000176542 MIM:617568
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIAA2018
Summary
This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in bone marrow (RPKM 3.4), kidney (RPKM 3.3) and 25 other tissues See more
Orthologs
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Genomic context

See USF3 in Genome Data Viewer
Location:
3q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (113648385..113696657, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113367232..113415489, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SID1 transmembrane family member 1 Neighboring gene microRNA 4446 Neighboring gene RNA, 7SL, cytoplasmic 767, pseudogene Neighboring gene N-alpha-acetyltransferase 50, NatE catalytic subunit Neighboring gene ATPase H+ transporting V1 subunit A

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

Bibliography

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781O0144

General protein information

Preferred Names
basic helix-loop-helix domain-containing protein USF3

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.

Genomic

  1. NG_055006.1 RefSeqGene

    Range
    5016..53273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009899.4NP_001009899.3  basic helix-loop-helix domain-containing protein USF3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represent the longer transcript and encodes the protein.
    Source sequence(s)
    AC055740, AC108693, KF457673
    Consensus CDS
    CCDS43133.1
    Related
    ENSP00000320794.4, ENST00000316407.9
    Conserved Domains (1) summary
    cd18910
    Location:1579
    bHLHzip_USF3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in basic helix-loop-helix domain-containing protein USF3 and similar proteins

RNA

  1. NR_111981.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AC055740, BC043383
    Related
    ENST00000491165.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    113648385..113696657 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005872.1XP_016861361.1  basic helix-loop-helix domain-containing protein USF3 isoform X2

  2. XM_017005871.1XP_016861360.1  basic helix-loop-helix domain-containing protein USF3 isoform X1

    Related
    ENSP00000420721.1, ENST00000478658.1
    Conserved Domains (1) summary
    cd18910
    Location:1579
    bHLHzip_USF3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in basic helix-loop-helix domain-containing protein USF3 and similar proteins
  3. XM_005247208.4XP_005247265.2  basic helix-loop-helix domain-containing protein USF3 isoform X2

  4. XM_024453392.1XP_024309160.1  basic helix-loop-helix domain-containing protein USF3 isoform X2

  5. XM_024453391.1XP_024309159.1  basic helix-loop-helix domain-containing protein USF3 isoform X1

    Conserved Domains (1) summary
    cd18910
    Location:1579
    bHLHzip_USF3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in basic helix-loop-helix domain-containing protein USF3 and similar proteins
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