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HOXB1 homeobox B1 [ Homo sapiens (human) ]

Gene ID: 3211, updated on 1-Jun-2020

Summary

Official Symbol
HOXB1provided by HGNC
Official Full Name
homeobox B1provided by HGNC
Primary source
HGNC:HGNC:5111
See related
Ensembl:ENSG00000120094 MIM:142968
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
HOX2; HCFP3; HOX2I; Hox-2.9
Summary
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See HOXB1 in Genome Data Viewer
Location:
17q21.32
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48528526..48531011, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46606807..46608272, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927166 Neighboring gene uncharacterized LOC105371808 Neighboring gene Sharpr-MPRA regulatory region 4378 Neighboring gene Sharpr-MPRA regulatory region 4554 Neighboring gene HOXB cluster antisense RNA 1 Neighboring gene homeobox B2

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

Associated conditions

Description Tests
Hereditary congenital facial paresis 3
MedGen: C3553625 OMIM: 614744 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116843, MGC116844, MGC116845

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure formation involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
facial nerve structural organization IEA
Inferred from Electronic Annotation
more info
 
facial nucleus development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
pattern specification process TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
rhombomere 4 development IEA
Inferred from Electronic Annotation
more info
 
rhombomere 5 development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
homeobox protein Hox-B1
Names
homeobox protein Hox-2I

NCBI Reference Sequences (RefSeq)

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_032884.1 RefSeqGene

    Range
    4900..7385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002144.4NP_002135.2  homeobox protein Hox-B1

    See identical proteins and their annotated locations for NP_002135.2

    Status: REVIEWED

    Source sequence(s)
    AC103702, X16666
    Consensus CDS
    CCDS32675.1
    UniProtKB/Swiss-Prot
    P14653
    Related
    ENSP00000355140.5, ENST00000239174.7
    Conserved Domains (1) summary
    pfam00046
    Location:207259
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    48528526..48531011 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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