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    ISX intestine specific homeobox [ Homo sapiens (human) ]

    Gene ID: 91464, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ISXprovided by HGNC
    Official Full Name
    intestine specific homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:28084
    See related
    Ensembl:ENSG00000175329 MIM:612019; AllianceGenome:HGNC:28084
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Pix-1; RAXLX
    Summary
    Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in duodenum (RPKM 20.1), colon (RPKM 15.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See ISX in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (35066158..35087387)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (35524914..35546195)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (35462151..35483380)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2885 Neighboring gene uncharacterized LOC124905109 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:35300277-35301476 Neighboring gene uncharacterized LOC105373015 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35345833-35346334 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35346335-35346834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35419897-35420488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18889 Neighboring gene uncharacterized LOC124905110 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:35472054-35473253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18893 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:35531129-35531665 Neighboring gene long intergenic non-protein coding RNA 1399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18894 Neighboring gene Sharpr-MPRA regulatory region 1139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18895 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35554225-35555056 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:35567219-35568418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35573611-35574112 Neighboring gene COX7B pseudogene 1 Neighboring gene uncharacterized LOC105373017 Neighboring gene RNA, U7 small nuclear 167 pseudogene Neighboring gene HMG-box containing 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Interaction between retinol intake and ISX rs5755368 polymorphism in colorectal cancer risk: a case-control study in a Korean population. Bui AQ, et al. Sci Rep, 2023 Jun 22. PMID 37349365, Free PMC Article
    2. Intestine-Specific Homeobox Gene ISX Integrates IL6 Signaling, Tryptophan Catabolism, and Immune Suppression. Wang LT, et al. Cancer Res, 2017 Aug 1. PMID 28625979
    3. Intestine-specific homeobox (ISX) induces intestinal metaplasia and cell proliferation to contribute to gastric carcinogenesis. Sue S, et al. J Gastroenterol, 2016 Oct. PMID 26872890
    4. Proinflammatory homeobox gene, ISX, regulates tumor growth and survival in hepatocellular carcinoma. Hsu SH, et al. Cancer Res, 2013 Jan 15. PMID 23221382
    5. Phosphorylation of intestine-specific homeobox by ERK1 modulates oncogenic activity and sorafenib resistance. Wang LT, et al. Cancer Lett, 2021 Nov 1. PMID 34265398

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction between retinol intake and ISX rs5755368 polymorphism in colorectal cancer risk: a case-control study in a Korean population.
      Title: Interaction between retinol intake and ISX rs5755368 polymorphism in colorectal cancer risk: a case-control study in a Korean population.
    2. Impact of bromodomain-containing protein 4 (BRD4) and intestine-specific homeobox (ISX) expression on the prognosis of patients with hepatocellular carcinoma' for better clarity.
      Title: Impact of bromodomain-containing protein 4 (BRD4) and intestine-specific homeobox (ISX) expression on the prognosis of patients with hepatocellular carcinoma' for better clarity.
    3. Phosphorylation of intestine-specific homeobox by ERK1 modulates oncogenic activity and sorafenib resistance.
      Title: Phosphorylation of intestine-specific homeobox by ERK1 modulates oncogenic activity and sorafenib resistance.
    4. our results indicate that E2F1 is an important downstream gene of ISX in hepatoma progression.
      Title: Intestine-specific homeobox (ISX) upregulates E2F1 expression and related oncogenic activities in HCC.
    5. Results show that ISX expression mediated AHR-induced tumorigenesis in hepatocellular carcinoma.
      Title: Aryl hydrocarbon receptor promotes hepatocellular carcinoma tumorigenesis by targeting intestine-specific homeobox expression.
    6. Overall, our results identified a feed-forward mechanism of immune suppression in hepatocellular carcinoma organized by ISX, which involves kynurenine-AHR signaling and PD-L1, offering insights into immune escape by hepatocellular carcinoma
      Title: Intestine-Specific Homeobox Gene ISX Integrates IL6 Signaling, Tryptophan Catabolism, and Immune Suppression.
    7. ISX expression induced by H. pylori infection may lead to intestinal metaplasia and hyperproliferation of gastric mucosa through CDX1/2 and cyclinD1 expression, contributing to gastric carcinogenesis.
      Title: Intestine-specific homeobox (ISX) induces intestinal metaplasia and cell proliferation to contribute to gastric carcinogenesis.
    8. Genetics and diet regulate vitamin A production via the homeobox transcription factor ISX
      Title: Genetics and diet regulate vitamin A production via the homeobox transcription factor ISX.
    9. our results highlight ISX as an important regulator in hepatoma progression with significant potential as a prognostic and therapeutic target in HCCs.
      Title: Proinflammatory homeobox gene, ISX, regulates tumor growth and survival in hepatocellular carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138417, DKFZp781N2395

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    intestine-specific homeobox
    Names
    RAX-like homeobox
    pancreas-intestine homeodomain transcription factor

    NCBI Reference Sequences (RefSeq)

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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.

    mRNA and Protein(s)

    1. NM_001303508.2 → NP_001290437.1  intestine-specific homeobox

      See identical proteins and their annotated locations for NP_001290437.1

      Status: VALIDATED

      Source sequence(s)
      AK025181, AL024494, CR749372, Z83853
      Consensus CDS
      CCDS33640.1
      UniProtKB/Swiss-Prot
      Q2M1V0, Q68DJ5
      UniProtKB/TrEMBL
      B1B1S6
      Related
      ENSP00000386037.1, ENST00000404699.7
      Conserved Domains (1) summary
      pfam00046
      Location:86 → 138
      Homeobox; Homeobox 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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      35066158..35087387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441598.1 → XP_047297554.1  intestine-specific homeobox isoform X1

      UniProtKB/Swiss-Prot
      Q2M1V0, Q68DJ5
      UniProtKB/TrEMBL
      B1B1S6
      Related
      ENSP00000311492.6, ENST00000308700.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      35524914..35546195
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326131.1 → XP_054182106.1  intestine-specific homeobox isoform X1

      UniProtKB/Swiss-Prot
      Q2M1V0, Q68DJ5
      UniProtKB/TrEMBL
      B1B1S6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008494.1: Suppressed sequence

      Description
      NM_001008494.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M1V0.2 GenPept UniProtKB/Swiss-Prot:Q2M1V0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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