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

Gene ID: 54729, updated on 23-Nov-2021

Summary

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
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
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Genomic context

See NKX1-1 in Genome Data Viewer
Location:
4p16.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1402932..1406442, complement)
105.20201022 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 macrophage erythroblast attacher, E3 ubiquitin ligase Neighboring gene UV stimulated scaffold protein A Neighboring gene Sharpr-MPRA regulatory region 8056 Neighboring gene Sharpr-MPRA regulatory region 3424 Neighboring gene uncharacterized LOC105374348

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of generation of precursor metabolites and energy IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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

    Status: REVIEWED

    Source sequence(s)
    AC118281
    Related
    ENSP00000407978.2, ENST00000422806.2
    Conserved Domains (1) summary
    pfam00046
    Location:300352
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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