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

Gene ID: 3166, updated on 7-Dec-2018

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
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

Genomic context

See HMX1 in Genome Data Viewer
Location:
4p16.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (8846076..8871817, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8847803..8873543, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene carboxypeptidase Z Neighboring gene uncharacterized LOC101928532 Neighboring gene uncharacterized LOC105374474 Neighboring gene seven transmembrane helix receptor 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 Jun 15 11:32:44 2016

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

General gene information

Markers

Homology

General protein information

Preferred Names
homeobox protein HMX1
Names
H6 homeodomain protein
homeobox protein H6

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_013062.2 RefSeqGene

    Range
    5001..9771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001306142.1NP_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, BM701514, CK299519, M99587
    Consensus CDS
    CCDS77900.1
    UniProtKB/Swiss-Prot
    Q9NP08
    UniProtKB/TrEMBL
    F1T0J4
    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, ENST00000400677.4
    Conserved Domains (1) summary
    pfam00046
    Location:206259
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    8846076..8871817 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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