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HMX1 H6 family homeobox 1 [ Homo sapiens (human) ]

Gene ID: 3166, updated on 1-Mar-2024

Summary

Official Symbol
HMX1provided by HGNC
Official Full Name
H6 family homeobox 1provided by HGNC
Primary source
HGNC:HGNC:5017
See related
Ensembl:ENSG00000215612 MIM:142992; AllianceGenome:HGNC:5017
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
H6; NKX5-3
Summary
This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See HMX1 in Genome Data Viewer
Location:
4p16.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (8846076..8871839, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (8812981..8838746, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8847802..8873565, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8608601-8609168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8609169-8609736 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:8618505-8618698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8632034-8632534 Neighboring gene carboxypeptidase Z Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8655353-8655869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8691763-8692264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8696486-8697142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8703017-8703985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8707175-8707921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8707922-8708668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8711370-8712145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8725118-8725618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8725619-8726119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8727547-8728159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8728926-8729631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8731043-8731746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8746853-8747380 Neighboring gene uncharacterized LOC101928532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8764548-8765048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8765049-8765549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8766906-8767766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8773080-8773597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8819142-8819928 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:8838985-8839598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8858613-8859157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8859158-8859701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8860247-8860789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8861378-8861996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8861997-8862614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8893515-8894514 Neighboring gene olfactory receptor family 7 subfamily E member 85B pseudogene Neighboring gene unc-93 homolog B8 (pseudogene)

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

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of H6 family homeobox 1 (HMX1) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
homeobox protein HMX1
Names
H6 homeodomain protein
NK5 homeobox 3
homeobox protein H6

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_013062.2 RefSeqGene

    Range
    4979..9770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001306142.2NP_001293071.1  homeobox protein HMX1 isoform 2

    See identical proteins and their annotated locations for NP_001293071.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate exon in the 3' coding region that results in a frameshift compared to variant 1. It encodes isoform 2, which is shorter than and has a novel C-terminus compared to isoform 1.
    Source sequence(s)
    AB593128, AC116612, BM701514, CK299519, M99587
    Consensus CDS
    CCDS77900.1
    UniProtKB/TrEMBL
    F1T0J4, F8W1B1
    Related
    ENSP00000446997.2, ENST00000506970.2
  2. NM_018942.3NP_061815.2  homeobox protein HMX1 isoform 1

    See identical proteins and their annotated locations for NP_061815.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer variant and encodes the longer isoform (1).
    Source sequence(s)
    AC116612
    Consensus CDS
    CCDS47018.1
    UniProtKB/Swiss-Prot
    Q9NP08
    Related
    ENSP00000383516.3, ENST00000400677.5
    Conserved Domains (1) summary
    pfam00046
    Location:206259
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    8846076..8871839 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021159993.1 Reference GRCh38.p14 PATCHES

    Range
    98859..124622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    8812981..8838746 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)