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HMX3 H6 family homeobox 3 [ Homo sapiens (human) ]

Gene ID: 340784, updated on 5-Aug-2022

Summary

Official Symbol
HMX3provided by HGNC
Official Full Name
H6 family homeobox 3provided by HGNC
Primary source
HGNC:HGNC:5019
See related
Ensembl:ENSG00000188620 MIM:613380; AllianceGenome:HGNC:5019
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
NKX5.1; Nkx5-1; NKX-5.1
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in ear development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including embryo implantation; maternal process involved in female pregnancy; and neuromuscular process controlling balance. Predicted to be part of chromatin. Predicted to be active in nucleus. [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 HMX3 in Genome Data Viewer
Location:
10q26.13
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (123135970..123139423)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (124010982..124014441)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124895486..124898939)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs329 Neighboring gene Sharpr-MPRA regulatory region 13916 Neighboring gene Sharpr-MPRA regulatory region 2134 Neighboring gene Sharpr-MPRA regulatory region 11829 Neighboring gene H6 family homeobox 2

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
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in embryo implantation IEA
Inferred from Electronic Annotation
more info
 
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular process controlling balance 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
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
homeobox protein HMX3
Names
homeo box (H6 family) 3
homeobox (H6 family) 3
homeobox protein H6 family member 3
homeobox protein Nkx-5.1

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_001105574.2NP_001099044.1  homeobox protein HMX3

    See identical proteins and their annotated locations for NP_001099044.1

    Status: VALIDATED

    Source sequence(s)
    AC012391, AW088771
    Consensus CDS
    CCDS41575.1
    UniProtKB/Swiss-Prot
    A6NHT5, A8MU06
    Related
    ENSP00000350549.4, ENST00000357878.7
    Conserved Domains (1) summary
    pfam00046
    Location:230283
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    123135970..123139423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    124010982..124014441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)