U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

BARHL1 BarH like homeobox 1 [ Homo sapiens (human) ]

Gene ID: 56751, updated on 5-Aug-2022

Summary

Official Symbol
BARHL1provided by HGNC
Official Full Name
BarH like homeobox 1provided by HGNC
Primary source
HGNC:HGNC:953
See related
Ensembl:ENSG00000125492 MIM:605211; AllianceGenome:HGNC:953
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
Summary
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including negative regulation of neuron apoptotic process; nervous system development; and sensory perception of sound. Predicted to be part of chromatin. Predicted to be active in nucleus. Biomarker of Alzheimer's disease; high grade glioma; and triple-receptor negative breast cancer. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BARHL1 in Genome Data Viewer
Location:
9q34.13
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132582606..132590252)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (144793810..144801451)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135457993..135465639)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9749 Neighboring gene cilia and flagella associated protein 77 Neighboring gene uncharacterized LOC124902293 Neighboring gene DEAD-box helicase 31 Neighboring gene general transcription factor IIIC subunit 4

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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in midbrain development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of outer hair cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in outer hair cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
barH-like 1 homeobox protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_020064.4NP_064448.1  barH-like 1 homeobox protein

    See identical proteins and their annotated locations for NP_064448.1

    Status: VALIDATED

    Source sequence(s)
    AF325688, AK054797
    Consensus CDS
    CCDS6950.1
    UniProtKB/Swiss-Prot
    Q9BZE3, Q9NY88
    Related
    ENSP00000263610.2, ENST00000263610.7
    Conserved Domains (1) summary
    pfam00046
    Location:182235
    Homeobox; Homeobox domain

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    132582606..132590252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    144793810..144801451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)