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ALX1 ALX homeobox 1 [ Homo sapiens (human) ]

Gene ID: 8092, updated on 8-Jul-2018
Official Symbol
ALX1provided by HGNC
Official Full Name
ALX homeobox 1provided by HGNC
Primary source
HGNC:HGNC:1494
See related
Ensembl:ENSG00000180318 MIM:601527; Vega:OTTHUMG00000169820
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
See ALX1 in Genome Data Viewer
Location:
12q21.31
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (85280258..85301784)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (85673713..85695562)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tetraspanin 19 Neighboring gene leucine rich repeats and IQ motif containing 1 Neighboring gene uncharacterized LOC105369876 Neighboring gene uncharacterized LOC107984537 Neighboring gene p53 and DNA damage-regulated protein 1 pseudogene

  • 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

GeneRIFs: Gene References Into FunctionsWhat'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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
cartilage condensation TAS
Traceable Author Statement
more info
PubMed 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor 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

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
    5001..26527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_008913.2

    Status: REVIEWED

    Source sequence(s)
    BC010923
    Consensus CDS
    CCDS9028.1
    UniProtKB/Swiss-Prot
    Q15699
    UniProtKB/TrEMBL
    V9HWA7
    Related
    ENSP00000315417.3, OTTHUMP00000242207, ENST00000316824.3, OTTHUMT00000406072
    Conserved Domains (2) summary
    pfam00046
    Location:135188
    Homeobox; Homeobox domain
    pfam03826
    Location:302320
    OAR; OAR 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_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    85280258..85301784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538782.2XP_011537084.1  ALX homeobox protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011537084.1

    Conserved Domains (2) summary
    pfam00046
    Location:4093
    Homeobox; Homeobox domain
    pfam03826
    Location:207224
    OAR; OAR domain
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