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    ALX3 ALX homeobox 3 [ Homo sapiens (human) ]

    Gene ID: 257, updated on 17-Jun-2024

    Summary

    Official Symbol
    ALX3provided by HGNC
    Official Full Name
    ALX homeobox 3provided by HGNC
    Primary source
    HGNC:HGNC:449
    See related
    Ensembl:ENSG00000156150 MIM:606014; AllianceGenome:HGNC:449
    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
    FND; FND1
    Summary
    This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in skin (RPKM 1.8), endometrium (RPKM 1.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALX3 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (110059870..110070672, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (110069997..110080800, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110602492..110613294, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1164 Neighboring gene adenosylhomocysteinase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1458 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:110560640-110561839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1459 Neighboring gene uncharacterized LOC105378895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1166 Neighboring gene striatin interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1167 Neighboring gene long intergenic non-protein coding RNA 1397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1461 Neighboring gene ubiquitin like 4B

    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
    Frontorhiny
    MedGen: C5574965 OMIM: 136760 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ALX homeobox 3 (ALX3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138212, MGC141988

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pattern specification process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of apoptotic process 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
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    homeobox protein aristaless-like 3
    Names
    aristaless-like homeobox 3
    frontonasal dysplasia
    proline-rich transcription factor ALX3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012039.1 RefSeqGene

      Range
      5029..15831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1265

    mRNA and Protein(s)

    1. NM_006492.3NP_006483.2  homeobox protein aristaless-like 3

      See identical proteins and their annotated locations for NP_006483.2

      Status: REVIEWED

      Source sequence(s)
      AL160006, BC113428
      Consensus CDS
      CCDS819.1
      UniProtKB/Swiss-Prot
      O95075, O95076, Q5T8M4
      Related
      ENSP00000497310.1, ENST00000647563.2
      Conserved Domains (2) summary
      PRK12323
      Location:13131
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam00046
      Location:157210
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      110059870..110070672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      110069997..110080800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)