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ALX1 ALX homeobox 1 [ Homo sapiens (human) ]

Gene ID: 8092, updated on 5-Jul-2025
Official Symbol
ALX1provided by HGNC
Official Full Name
ALX homeobox 1provided by HGNC
Primary source
HGNC:HGNC:1494
See related
Ensembl:ENSG00000180318 MIM:601527; AllianceGenome:HGNC:1494
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
FND3; CART1; HEL23
Summary
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 1.7), ovary (RPKM 0.6) and 5 other tissues See more
Orthologs
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See ALX1 in Genome Data Viewer
Location:
12q21.31
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (85280220..85301784)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (85260566..85282129)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (85673998..85695562)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14945 Neighboring gene tetraspanin 19 Neighboring gene leucine rich repeats and IQ motif containing 1 Neighboring gene Sharpr-MPRA regulatory region 79 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:85711317-85711919 and GRCh37_chr12:85711920-85712521 Neighboring gene long intergenic non-protein coding RNA 2820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6693 Neighboring gene uncharacterized LOC107984537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6694 Neighboring gene Sharpr-MPRA regulatory region 923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:85920823-85921324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:85921325-85921824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6695 Neighboring gene p53 and DNA damage-regulated protein 1-like

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of ALX homeobox 1 (ALX1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific TAS
Traceable Author Statement
more info
PubMed 
enables DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic skeletal system morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within mesenchymal cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within neural tube closure IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within stem cell development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
ALX homeobox protein 1
Names
CART-1
cartilage paired-class homeoprotein 1
epididymis luminal protein 23

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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_023202.1 RefSeqGene

    Range
    4963..26527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006982.3NP_008913.2  ALX homeobox protein 1

    See identical proteins and their annotated locations for NP_008913.2

    Status: REVIEWED

    Source sequence(s)
    AC133794, BC010923
    Consensus CDS
    CCDS9028.1
    UniProtKB/Swiss-Prot
    Q15699, Q546C8, Q96FH4
    UniProtKB/TrEMBL
    V9HWA7
    Related
    ENSP00000315417.3, ENST00000316824.4
    Conserved Domains (2) summary
    pfam00046
    Location:135189
    Homeobox; Homeobox domain
    pfam03826
    Location:302320
    OAR; OAR domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    85280220..85301784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    85260566..85282129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)