TBX19

Last updated
TBX19
Identifiers
Aliases TBX19 , TBS19, TPIT, dJ747L4.1, T-box 19, T-box transcription factor 19
External IDs OMIM: 604614 MGI: 1891158 HomoloGene: 3779 GeneCards: TBX19
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005149

NM_032005

RefSeq (protein)

NP_005140

NP_114394

Location (UCSC) Chr 1: 168.28 – 168.31 Mb Chr 1: 164.97 – 164.99 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene. [5]

Contents

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx19/Tpit gene. Studies in mouse show that Tpit protein is present only in the two pituitary pro-opiomelanocortin (POMC)-expressing lineages, the corticotrophs and melanotrophs.

The Tpit gene is responsible for a neonatal form of acth deficiency and hypocortisolism. [6]

Mutations in the human ortholog were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. [7]

See also

Related Research Articles

Proopiomelanocortin Mammalian protein found in Homo sapiens

Pro-opiomelanocortin (POMC) is a precursor polypeptide with 241 amino acid residues. POMC is synthesized in corticotrophs of the anterior pituitary from the 267-amino-acid-long polypeptide precursor pre-pro-opiomelanocortin (pre-POMC), by the removal of a 26-amino-acid-long signal peptide sequence during translation. POMC is part of the central melanocortin system.

TBX1 Protein-coding gene in the species Homo sapiens

T-box transcription factor TBX1 also known as T-box protein 1 and testis-specific T-box protein is a protein that in humans is encoded by the TBX1 gene. Genes in the T-box family are transcription factors that play important roles in the formation of tissues and organs during embryonic development. To carry out these roles, proteins made by this gene family bind to specific areas of DNA called T-box binding element (TBE) to control the expression of target genes.

Pituitary-specific positive transcription factor 1 Protein-coding gene in the species Homo sapiens

POU domain, class 1, transcription factor 1 , also known as POU1F1, is a transcription factor for growth hormone.

HESX1 Protein-coding gene in the species Homo sapiens

Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.

TBX21 Protein-coding gene in the species Homo sapiens

T-box transcription factor TBX21, also called T-bet is a protein that in humans is encoded by the TBX21 gene.

PROP1

Homeobox protein prophet of PIT-1 is a protein that in humans is encoded by the PROP1 gene.

LHX3 Protein-coding gene in the species Homo sapiens

LIM/homeobox protein Lhx3 is a protein that in humans is encoded by the LHX3 gene.

SOX3 Protein-coding gene in the species Homo sapiens

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene. This gene encodes a member of the SOX family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.

RFX4 Protein-coding gene in the species Homo sapiens

Transcription factor RFX4 is a protein that in humans is encoded by the RFX4 gene.

TBX22 Protein-coding gene in the species Homo sapiens

T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.

SOX12

SOX12 is a protein that in humans is encoded by the SOX12 gene. Sox12 belongs to the SoxC group of Sox family of transcription factors, together with Sox4 and Sox11. Sox12-null knockout mice appear normal, unlike Sox4 or Sox11 knockout mice. This probably comes from functional redundancy with Sox4 and Sox11. Sox12 is a weaker activator than both Sox4 and Sox11 in mouse.

LHX4 Protein-coding gene in the species Homo sapiens

LIM/homeobox protein Lhx4 is a protein that in humans is encoded by the LHX4 gene.

DBX1 Protein-coding gene in the species Homo sapiens

Homeobox protein DBX1, also known as developing brain homeobox protein 1, is a protein that in humans is encoded by the DBX1 gene. The DBX1 gene is a transcription factor gene that is pivotal in interneuron differentiation in the ventral spinal cord.

Hes family bhlh transcription factor 2 Protein-coding gene in the species Homo sapiens

Hes family bHLH transcription factor 2 is a protein that in humans is encoded by the HES2 gene.

PAM16 Protein-coding gene in the species Homo sapiens

Mitochondrial import inner membrane translocase subunit TIM16 also known as presequence translocated-associated motor subunit PAM16, mitochondria-associated granulocyte macrophage CSF-signaling molecule, or presequence translocated-associated motor subunit PAM16 is a protein that in humans is encoded by the PAM16 gene.

FJX1

Four jointed box 1 is a protein that in humans is encoded by the FJX1 gene.

TBX15

T-box transcription factor TBX15 is protein that is encoded in humans by the TBX15 gene.

FOXS1 Protein-coding gene in the species Homo sapiens

Forkhead box S1 is a protein that in humans is encoded by the FOXS1 gene.

FAM222A

Family with sequence similarity 222 member A or Aggregatin is a protein of unknown function. In humans it is encoded by the gene FAM222A. Aggregatin's cellular function is not well understood, however it has been implicated in Alzheimer's Disease.

FOXF2

Forkhead box protein F2 is a protein that in humans is encoded by the FOXF2 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000143178 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026572 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Yi CH, Terrett JA, Li QY, Ellington K, Packham EA, Armstrong-Buisseret L, McClure P, Slingsby T, Brook JD (Mar 1999). "Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19". Genomics. 55 (1): 10–20. doi:10.1006/geno.1998.5632. PMID   9888994.
  6. Williams textbook of endocrinology
  7. "Entrez Gene: TBX19 T-box 19".

Further reading