SOX14

Last updated
SOX14
Protein SOX14 PDB 1gt0.png
Identifiers
Aliases SOX14 , SOX28, SRY-box 14, SRY-box transcription factor 14
External IDs OMIM: 604747; MGI: 98362; HomoloGene: 31224; GeneCards: SOX14; OMA:SOX14 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004189

NM_011440

RefSeq (protein)

NP_004180

NP_035570

Location (UCSC) Chr 3: 137.76 – 137.77 Mb Chr 9: 99.76 – 99.76 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene. [5] [6]

Contents

Function

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [6]

Related Research Articles

<span class="mw-page-title-main">Sex-determining region Y protein</span> Protein that initiates male sex determination in therian mammals

Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals. SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.

SOX genes encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box. This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species. Homologues have been identified in insects, nematodes, amphibians, reptiles, birds and a range of mammals. However, HMG boxes can be very diverse in nature, with only a few amino acids being conserved between species.

<span class="mw-page-title-main">Twist-related protein 1</span> Transcription factor protein

Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.

<span class="mw-page-title-main">Steroidogenic factor 1</span> Protein-coding gene in humans

The steroidogenic factor 1 (SF-1) protein is a transcription factor involved in sex determination by controlling the activity of genes related to the reproductive glands or gonads and adrenal glands. This protein is encoded by the NR5A1 gene, a member of the nuclear receptor subfamily, located on the long arm of chromosome 9 at position 33.3. It was originally identified as a regulator of genes encoding cytochrome P450 steroid hydroxylases, however, further roles in endocrine function have since been discovered.

<span class="mw-page-title-main">SOX9</span> Transcription factor gene of the SOX family

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.

<span class="mw-page-title-main">FOXL2</span> Transcription factor gene of the FOX family

Forkhead box protein L2 is a protein that in humans is encoded by the FOXL2 gene.

<span class="mw-page-title-main">SOX10</span> Transcription factor gene of the SOX family

Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.

<i>TBX5</i> (gene) Protein-coding gene that affects limb development and heart and bone function

T-box transcription factor TBX5, is a protein that in humans is encoded by the TBX5 gene. Abnormalities in the TBX5 gene can result in altered limb development, Holt-Oram syndrome, Tetra-amelia syndrome, and cardiac and skeletal problems.

<span class="mw-page-title-main">SOX4</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-4 is a protein that in humans is encoded by the SOX4 gene.

<span class="mw-page-title-main">SOX3</span> 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.

<span class="mw-page-title-main">SOX5</span> Protein-coding gene in Homo sapiens

Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.

<span class="mw-page-title-main">SOX13</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-13 is a protein that in humans is encoded by the SOX13 gene.

<span class="mw-page-title-main">SOX6</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-6 is a protein that in humans is encoded by the SOX6 gene.

<span class="mw-page-title-main">SOX18</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.

<span class="mw-page-title-main">SOX11</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.

<span class="mw-page-title-main">SOX8</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.

<span class="mw-page-title-main">SOX15</span> Protein-coding gene in the species Homo sapiens

Protein SOX-15 is a protein that in humans is encoded by the SOX15 gene.

<span class="mw-page-title-main">SOX21</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-21 is a protein that in humans is encoded by the SOX21 gene. It is a member of the Sox gene family of transcription factors.

SRY -box 30 is a protein that in humans is encoded by the SOX30 gene.

<span class="mw-page-title-main">SOX7</span> Protein-coding gene in the species Homo sapiens

SRY-box 7 is a protein that in humans is encoded by the SOX7 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000168875 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000053747 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. Arsic N, Rajic T, Stanojcic S, Goodfellow PN, Stevanovic M (Mar 1999). "Characterisation and mapping of the human SOX14 gene". Cytogenetics and Cell Genetics. 83 (1–2): 139–46. doi:10.1159/000015149. PMID   9925951. S2CID   24812709.
  6. 1 2 "Entrez Gene: SOX14 SRY (sex determining region Y)-box 14".

Further reading