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    ALX1 ALX homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 8092, updated on 3-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ALX homeobox protein 1
    Names
    CART-1
    cartilage paired-class homeoprotein 1
    epididymis luminal protein 23

    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_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)