NKX1-1 - NK1 homeobox 1 Gene

Also Known as SAX2; HSPX153; NKX-1.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54729

About NKX1-1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,402,932-1,406,442 (from NCBI)

This gene has 1 transcript (splice variant), 167 orthologues and 13 paralogues. Low expression observed in reference dataset.

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]

NKX1-1 Products (1)

mRNA Protein Name
NM_001290079.1 NP_001277008.1 NK1 transcription factor-related protein 1

NKX1-1 Protein Structure

Homeobox

Homeobox: Homeobox domain (260 - 316)

  • 0
  • 100
  • 200
  • 300
  • 411 a.a.
Protein Preferred Names Protein Names

NK1 transcription factor-related protein 1

  • HPX-153 homeobox

Related Diseases

Diseases Alias
Orofaciodigital Syndrome Viii
  • Edwards Syndrome

  • Trisomy 18

  • Complete Trisomy 18 Syndrome

  • OFD8

  • Orofaciodigital Syndrome 8

  • Trisomy 18 Syndrome

  • Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis

  • E3 Trisomy

  • Oral-Facial-Digital Syndrome Type 8

  • Orofaciodigital Syndrome Type 8

  • Ofds Viii

  • Oral-Facial-Digital Syndrome, Type Viii

  • Ofd Syndrome 8

  • Ofds 8

  • Oral Facial Digital Syndrome 8

  • Oral Facial Digital Syndrome Type 8

  • 18 Trisomy

  • Chromosome 18 Trisomy

  • Trisomy 16-18

  • Trisomy E

  • Trisomy E Syndrome

  • Chromosome 18 Duplication

  • Oral-Facial-Digital Syndrome, Edwards Type

  • Orofaciodigital Syndrome, Edwards Type

  • Chromosome 18, Trisomy

  • Cleft Lip/Palate With Abnormal Thumbs And Microcephaly

  • Trisomy 18 Chromosome

  • Abnormal Autosomes 18

Twin-To-Twin Transfusion Syndrome
  • Twin To Twin Transfusion Syndrome

  • Twin Twin Transfusion Syndrome

  • Fetal Blood Loss From Fetal Hemorrhage Into Co-Twin

  • Fetal Hemorrhage Into Co-Twin

  • Twin To Twin Transfusion

  • Twin-To-Twin Blood Transfer

  • Fetal Transfusion Syndrome

  • Fetofetal Transfusion Syndrome

  • Ttts

  • Feto-Fetal Transfusion Syndrome

  • Fetofetal Transfusion

  • Fetus-To-Fetus Placental Transfusion Syndrome

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta NKX1-1 VGNC VGNC:107185
Bos taurus NKX1-1 VGNC VGNC:106840
Rattus norvegicus NKX1-1 RGD RGD:1564874
Canis familiaris NKX1-1 VGNC VGNC:43831
Felis catus NKX1-1 VGNC VGNC:107355
Mus musculus NKX1-1 MGD MGI:109346
Others NKX1-1 NCBI