1. Gene
  2. NKX1-1 - NK1 homeobox 1 Gene

NKX1-1 - NK1 homeobox 1 Gene

Homo sapiens

Also known as SAX2; HSPX153; NKX-1.1

Gene ID: 54729 | Gene type: protein coding

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