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ALX3 ALX homeobox 3 [ Homo sapiens (human) ]

Gene ID: 257, updated on 13-Mar-2020

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
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

Genomic context

See ALX3 in Genome Data Viewer
Location:
1p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (110059870..110070672, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110602997..110613322, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene adenosylhomocysteinase like 1 Neighboring gene uncharacterized LOC105378895 Neighboring gene striatin interacting protein 1 Neighboring gene long intergenic non-protein coding RNA 1397 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
Frontonasal dysplasia 1
MedGen: C1876203 OMIM: 136760 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Homology

Clone Names

  • MGC138212, MGC141988

Gene Ontology Provided by GOA

Process Evidence Code Pubs
embryonic cranial skeleton morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
pattern specification process IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    O95076
    Related
    ENSP00000497310.1, ENST00000647563.2
    Conserved Domains (2) summary
    pfam00046
    Location:157209
    Homeobox; Homeobox domain
    cl26386
    Location:13131
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

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_000001.11 Reference GRCh38.p13 Primary Assembly

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