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BSX brain specific homeobox [ Homo sapiens (human) ]

Gene ID: 390259, updated on 13-May-2022

Summary

Official Symbol
BSXprovided by HGNC
Official Full Name
brain specific homeoboxprovided by HGNC
Primary source
HGNC:HGNC:20450
See related
Ensembl:ENSG00000188909 MIM:611074; AllianceGenome:HGNC:20450
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
BSX1
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 eating behavior; mammary gland involution; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See BSX in Genome Data Viewer
Location:
11q24.1
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (122977570..122981834, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (123005290..123009556, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (122848278..122852542, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene junctional cadherin complex regulator Neighboring gene RNA, U4 small nuclear 23, pseudogene Neighboring gene uncharacterized LOC124902774 Neighboring gene ATP synthase peripheral stalk-membrane subunit b pseudogene 5 Neighboring gene SUMO1 activating enzyme subunit 1 pseudogene Neighboring gene ribosomal protein L34 pseudogene 23

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in eating behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in mammary gland involution 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 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
brain-specific homeobox protein homolog

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_001098169.2NP_001091639.1  brain-specific homeobox protein homolog

    See identical proteins and their annotated locations for NP_001091639.1

    Status: VALIDATED

    Source sequence(s)
    AP003040
    Consensus CDS
    CCDS41728.1
    UniProtKB/Swiss-Prot
    Q3C1V8
    Related
    ENSP00000344285.2, ENST00000343035.3
    Conserved Domains (1) summary
    pfam00046
    Location:114166
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    122977570..122981834 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    123005290..123009556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)