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    NKX1-1 NK1 homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 54729, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NKX1-1provided by HGNC
    Official Full Name
    NK1 homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:24975
    See related
    Ensembl:ENSG00000235608 MIM:617869; AllianceGenome:HGNC:24975
    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
    SAX2; HSPX153; NKX-1.1
    Summary
    This gene encodes a transcription factor that belongs to NKX family of homeodomain-containing proteins which are critical regulators of organ development. In mice, the orthologous gene is expressed predominantly in the brainstem, in the vicinity of serotonergic neurons, and is required for the coordinated crosstalk of factors involved in the maintenance of energy homeostasis. Mice with a knockout of the orthologous gene lack subcutaneous fat and intra-abdominal epididymal and mesenteric white adipose tissue two weeks after birth, and die within three weeks after birth. [provided by RefSeq, Jul 2017]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See NKX1-1 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1402932..1406442, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1401206..1404716, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1396720..1400230, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15127 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1285078-1285260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1288606-1289569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1291085-1291798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1301806-1302703 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1303601-1304498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1311232-1311732 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:1317288-1318487 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:1319662-1320861 Neighboring gene macrophage erythroblast attacher, E3 ubiquitin ligase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1332970-1333488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1338713-1339236 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1339237-1339759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15129 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21153 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1344739-1344907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1353821-1354342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1354343-1354864 Neighboring gene UV stimulated scaffold protein A Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:1388225-1389424 Neighboring gene Sharpr-MPRA regulatory region 8056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1399591-1400181 Neighboring gene Sharpr-MPRA regulatory region 3424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1408939-1409612 Neighboring gene uncharacterized LOC105374348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1513782-1514432 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1522059-1522612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1545561-1546304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1546305-1547046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1550615-1551471 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1553567-1553737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1562577-1563106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1568111-1568928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1568929-1569747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1569748-1570565 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:1573296-1574073 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:1574074-1574850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1578861-1579734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1577987-1578860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1579735-1580607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15134 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1582889-1583115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1595837-1596352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1600440-1601266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1605640-1606631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1606632-1607622 Neighboring gene family with sequence similarity 53 member A Neighboring gene VISTA enhancer hs526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1616583-1617084 Neighboring gene uncharacterized LOC105374349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21154

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Regulation of organ development by the NKX-homeodomain factors: an NKX code. Stanfel MN, et al. Cell Mol Biol (Noisy-le-grand), 2005 Oct 24. PMID 16405855
    2. Ablation of Sax2 gene expression prevents diet-induced obesity. Simon R, et al. FEBS J, 2011 Jan. PMID 21126319
    3. Homeobox gene Sax2 deficiency causes an imbalance in energy homeostasis. Simon R, et al. Dev Dyn, 2007 Oct. PMID 17879320
    4. Identification of homeobox genes expressed in human haemopoietic progenitor cells. Moretti P, et al. Gene, 1994 Jul 8. PMID 7518789
    5. Postnatal lethality in mice lacking the Sax2 homeobox gene homologous to Drosophila S59/slouch: evidence for positive and negative autoregulation. Simon R, et al. Mol Cell Biol, 2003 Dec. PMID 14645517, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    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 cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NK1 transcription factor-related protein 1
    Names
    HPX-153 homeobox
    NK1 transcription factor related, locus 1
    homeobox protein 153
    homeobox protein SAX-2

    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_001290079.1 → NP_001277008.1  NK1 transcription factor-related protein 1

      Status: REVIEWED

      Source sequence(s)
      AC118281
      Consensus CDS
      CCDS93464.1
      UniProtKB/Swiss-Prot
      Q15270
      Related
      ENSP00000407978.2, ENST00000422806.2
      Conserved Domains (1) summary
      pfam00046
      Location:300 → 352
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      1402932..1406442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      1401206..1404716 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15270.3 GenPept UniProtKB/Swiss-Prot:Q15270

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials