SIX1 | ENSG00000126778 | NCBI 6495

Details for: SIX1

Gene ID: 6495

Symbol: SIX1

Ensembl ID: ENSG00000126778

Description: SIX homeobox 1

Associated with

Developmental biology
(R-HSA-1266738)
Formation of the ureteric bud
(R-HSA-9830674)
Aorta morphogenesis
(GO:0035909)
Apoptotic process
(GO:0006915)
Branching involved in ureteric bud morphogenesis
(GO:0001658)
Cellular response to 3,3',5-triiodo-l-thyronine
(GO:1905243)
Chromatin
(GO:0000785)
Chromatin binding
(GO:0003682)
Cochlea morphogenesis
(GO:0090103)
Cytoplasm
(GO:0005737)
Dna-binding transcription activator activity, rna polymerase ii-specific
(GO:0001228)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna binding
(GO:0003677)
Embryonic cranial skeleton morphogenesis
(GO:0048701)
Embryonic skeletal system morphogenesis
(GO:0048704)
Endothelin receptor signaling pathway
(GO:0086100)
Epithelial cell differentiation
(GO:0030855)
Facial nerve morphogenesis
(GO:0021610)
Fungiform papilla morphogenesis
(GO:0061197)
Gene expression
(GO:0010467)
Generation of neurons
(GO:0048699)
Inner ear development
(GO:0048839)
Inner ear morphogenesis
(GO:0042472)
Kidney development
(GO:0001822)
Mesenchymal cell proliferation involved in ureter development
(GO:0072198)
Mesonephric tubule formation
(GO:0072172)
Metanephric mesenchyme development
(GO:0072075)
Middle ear morphogenesis
(GO:0042474)
Myoblast migration
(GO:0051451)
Myoblast proliferation
(GO:0051450)
Myotome development
(GO:0061055)
Negative regulation of neuron apoptotic process
(GO:0043524)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Neural crest cell differentiation
(GO:0014033)
Neuron fate specification
(GO:0048665)
Notch signaling pathway
(GO:0007219)
Nucleolus
(GO:0005730)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Olfactory placode formation
(GO:0030910)
Organ induction
(GO:0001759)
Otic vesicle development
(GO:0071599)
Outflow tract morphogenesis
(GO:0003151)
Pattern specification process
(GO:0007389)
Pharyngeal system development
(GO:0060037)
Positive regulation of branching involved in ureteric bud morphogenesis
(GO:0090190)
Positive regulation of brown fat cell differentiation
(GO:0090336)
Positive regulation of dna-templated transcription
(GO:0045893)
Positive regulation of mesenchymal cell proliferation involved in ureter development
(GO:2000729)
Positive regulation of myoblast proliferation
(GO:2000288)
Positive regulation of secondary heart field cardioblast proliferation
(GO:0072513)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Positive regulation of ureteric bud formation
(GO:0072107)
Protein binding
(GO:0005515)
Protein localization to nucleus
(GO:0034504)
Regulation of branch elongation involved in ureteric bud branching
(GO:0072095)
Regulation of dna-templated transcription
(GO:0006355)
Regulation of epithelial cell proliferation
(GO:0050678)
Regulation of neuron differentiation
(GO:0045664)
Regulation of protein localization
(GO:0032880)
Regulation of skeletal muscle cell differentiation
(GO:2001014)
Regulation of skeletal muscle cell proliferation
(GO:0014857)
Regulation of skeletal muscle satellite cell proliferation
(GO:0014842)
Regulation of synaptic assembly at neuromuscular junction
(GO:0008582)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Sensory perception of sound
(GO:0007605)
Sequence-specific dna binding
(GO:0043565)
Sequence-specific double-stranded dna binding
(GO:1990837)
Skeletal muscle fiber development
(GO:0048741)
Skeletal muscle tissue development
(GO:0007519)
Thymus development
(GO:0048538)
Thyroid gland development
(GO:0030878)
Transcription cis-regulatory region binding
(GO:0000976)
Transcription coactivator binding
(GO:0001223)
Transcription regulator complex
(GO:0005667)
Trigeminal ganglion development
(GO:0061551)
Ureteric bud development
(GO:0001657)
Ureter smooth muscle cell differentiation
(GO:0072193)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 5.1778
Cell Significance Index: 56.2900
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 3.0754
Cell Significance Index: 25.4400
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 2.5494
Cell Significance Index: 88.5900
Cell Name: sensory neuron (CL0000101)
Fold Change: 1.8859
Cell Significance Index: 10.7200
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 1.5676
Cell Significance Index: 16.1700
Cell Name: type I muscle cell (CL0002211)
Fold Change: 1.4638
Cell Significance Index: 35.7200
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 0.8401
Cell Significance Index: 8.7700
Cell Name: type II muscle cell (CL0002212)
Fold Change: 0.7078
Cell Significance Index: 11.4200
Cell Name: odontoblast (CL0000060)
Fold Change: 0.6784
Cell Significance Index: 86.9700
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.4671
Cell Significance Index: 9.9900
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.4633
Cell Significance Index: 13.6500
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.4446
Cell Significance Index: 20.7300
Cell Name: keratocyte (CL0002363)
Fold Change: 0.3356
Cell Significance Index: 5.3300
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.1681
Cell Significance Index: 4.3200
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.0485
Cell Significance Index: 5.9600
Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.0354
Cell Significance Index: 0.3500
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 0.0283
Cell Significance Index: 1.4300
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0025
Cell Significance Index: -0.4400
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0080
Cell Significance Index: -5.9600
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0091
Cell Significance Index: -17.1500
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.0154
Cell Significance Index: -0.2100
Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0164
Cell Significance Index: -8.9400
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0192
Cell Significance Index: -12.2000
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0192
Cell Significance Index: -14.5400
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0241
Cell Significance Index: -10.9300
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0264
Cell Significance Index: -14.8900
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0394
Cell Significance Index: -17.4000
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0478
Cell Significance Index: -13.7400
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0538
Cell Significance Index: -19.2800
Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0548
Cell Significance Index: -10.8700
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0654
Cell Significance Index: -6.6800
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0738
Cell Significance Index: -15.5500
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0759
Cell Significance Index: -8.8400
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.0793
Cell Significance Index: -4.1200
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0823
Cell Significance Index: -11.9700
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0898
Cell Significance Index: -15.3300
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0928
Cell Significance Index: -18.6100
Cell Name: lactocyte (CL0002325)
Fold Change: -0.1055
Cell Significance Index: -13.6300
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.1136
Cell Significance Index: -13.4000
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1270
Cell Significance Index: -14.5500
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.1304
Cell Significance Index: -17.9100
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.1536
Cell Significance Index: -11.4500
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1654
Cell Significance Index: -17.2200
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.1796
Cell Significance Index: -3.7600
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.1875
Cell Significance Index: -13.2600
Cell Name: chondroblast (CL0000058)
Fold Change: -0.2146
Cell Significance Index: -1.2600
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.2330
Cell Significance Index: -15.6700
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.2362
Cell Significance Index: -6.4300
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: -0.2518
Cell Significance Index: -3.9000
Cell Name: basal epithelial cell of prostatic duct (CL0002236)
Fold Change: -0.2698
Cell Significance Index: -2.4000
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.2732
Cell Significance Index: -12.8400
Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -0.2830
Cell Significance Index: -3.2200
Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
Fold Change: -0.2837
Cell Significance Index: -3.1100
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: -0.2883
Cell Significance Index: -2.4500
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.3056
Cell Significance Index: -13.8500
Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.3256
Cell Significance Index: -13.3400
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.3407
Cell Significance Index: -19.1200
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.3846
Cell Significance Index: -14.1200
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: -0.3910
Cell Significance Index: -9.4700
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.3981
Cell Significance Index: -20.9000
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.4036
Cell Significance Index: -11.5700
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: -0.4118
Cell Significance Index: -4.9000
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: -0.4300
Cell Significance Index: -3.9500
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.4379
Cell Significance Index: -12.8600
Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
Fold Change: -0.4527
Cell Significance Index: -4.5300
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.4546
Cell Significance Index: -6.5100
Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.4684
Cell Significance Index: -11.6800
Cell Name: cytotoxic T cell (CL0000910)
Fold Change: -0.4967
Cell Significance Index: -7.2400
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: -0.5177
Cell Significance Index: -8.8500
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.5224
Cell Significance Index: -18.3000
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -0.5262
Cell Significance Index: -3.5700
Cell Name: kidney cell (CL1000497)
Fold Change: -0.5436
Cell Significance Index: -4.3400
Cell Name: lung ciliated cell (CL1000271)
Fold Change: -0.5453
Cell Significance Index: -5.3400
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.5467
Cell Significance Index: -14.6500
Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.5477
Cell Significance Index: -15.6300
Cell Name: seromucus secreting cell (CL0000159)
Fold Change: -0.5524
Cell Significance Index: -11.5200
Cell Name: slow muscle cell (CL0000189)
Fold Change: -0.5555
Cell Significance Index: -8.3100
Cell Name: erythrocyte (CL0000232)
Fold Change: -0.5672
Cell Significance Index: -14.4500
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.5699
Cell Significance Index: -18.6600
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.5736
Cell Significance Index: -21.7200
Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.5763
Cell Significance Index: -9.6500
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.5862
Cell Significance Index: -18.6700
Cell Name: granulosa cell (CL0000501)
Fold Change: -0.5895
Cell Significance Index: -15.5000
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.5899
Cell Significance Index: -15.7800
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.5955
Cell Significance Index: -15.9000
Cell Name: keratinocyte (CL0000312)
Fold Change: -0.5974
Cell Significance Index: -14.9200
Cell Name: connective tissue cell (CL0002320)
Fold Change: -0.6141
Cell Significance Index: -5.9200
Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.6179
Cell Significance Index: -13.5300
Cell Name: ciliated cell (CL0000064)
Fold Change: -0.6271
Cell Significance Index: -6.7900
Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: -0.6274
Cell Significance Index: -5.2700
Cell Name: endocrine cell (CL0000163)
Fold Change: -0.6437
Cell Significance Index: -7.7800
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.6660
Cell Significance Index: -12.3100
Cell Name: muscle fibroblast (CL1001609)
Fold Change: -0.6661
Cell Significance Index: -4.0800
Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
Fold Change: -0.6715
Cell Significance Index: -13.3900
Cell Name: monocyte (CL0000576)
Fold Change: -0.6761
Cell Significance Index: -7.7800
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: -0.6879
Cell Significance Index: -13.4500
Cell Name: fast muscle cell (CL0000190)
Fold Change: -0.6887
Cell Significance Index: -9.0200
Cell Name: duct epithelial cell (CL0000068)
Fold Change: -0.7015
Cell Significance Index: -9.7000
Cell Name: airway submucosal gland collecting duct epithelial cell (CL4033023)
Fold Change: -0.7039
Cell Significance Index: -4.9400
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.7160
Cell Significance Index: -20.6300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** 1. **Transcription Factor**: SIX1 is a transcription factor that regulates gene expression by binding to specific DNA sequences. 2. **Homeobox Gene**: SIX1 belongs to the SIX family of homeobox genes, which are essential for the regulation of developmental processes. 3. **Highly Expressed in Neural Progenitor Cells**: SIX1 is highly expressed in neural progenitor cells, indicating its role in neural development and patterning. 4. **Tissue-Specific Expression**: SIX1 is expressed in various tissues, including the kidney, salivary gland, tracheobronchial tree, and thymus, indicating its role in organ development and patterning. 5. **Regulation by Transcriptional Activators and Repressors**: SIX1's expression is tightly regulated by various transcriptional activators and repressors, indicating its involvement in complex developmental pathways. **Pathways and Functions** 1. **Developmental Biology**: SIX1 plays a crucial role in the development and patterning of various organs and tissues during embryonic development. 2. **Apoptotic Process**: SIX1 regulates the apoptotic process by interacting with anti-apoptotic proteins, such as Bcl-2. 3. **Cellular Response to Thyroid Hormone**: SIX1 regulates the cellular response to thyroid hormone by interacting with thyroid hormone receptors. 4. **Chromatin and Epigenetics**: SIX1 regulates chromatin structure and epigenetic marks, influencing gene expression and cellular differentiation. 5. **Neurogenesis and Neuronal Differentiation**: SIX1 regulates neurogenesis and neuronal differentiation by interacting with neural progenitor cells and promoting the expression of neuronal genes. **Clinical Significance** 1. **Congenital Heart Defects**: SIX1 mutations have been associated with congenital heart defects, including atrial septal defects and ventricular septal defects. 2. **Kidney Development**: SIX1 mutations have been associated with kidney development abnormalities, including renal agenesis and renal dysplasia. 3. **Thyroid Gland Development**: SIX1 mutations have been associated with thyroid gland development abnormalities, including thyroid hypoplasia and thyroid aplasia. 4. **Neurological Disorders**: SIX1 mutations have been associated with neurological disorders, including schizophrenia and autism spectrum disorder. 5. **Cancer**: SIX1 has been implicated in cancer development and progression, particularly in the context of epithelial-to-mesenchymal transition (EMT) and metastasis. In conclusion, SIX1 is a crucial transcription factor involved in the development and patterning of various organs and tissues during embryonic development. Its dysregulation has been implicated in various congenital and acquired disorders, highlighting the importance of SIX1 in human health and disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Homeobox protein SIX1

Genular Protein ID: 3313733781

Symbol: SIX1_HUMAN

Name: Homeobox protein SIX1

UniProtKB Accession Codes:

Q15475 Q53Y16 Q96H64

Database IDs:

Citations:

PubMed ID: 8617500

Title: Cloning of the human SIX1 gene and its assignment to chromosome 14.

PubMed ID: 8617500

DOI: 10.1006/geno.1996.0172

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10801845

Title: Cell cycle-regulated phosphorylation of the human SIX1 homeodomain protein.

PubMed ID: 10801845

DOI: 10.1074/jbc.m002446200

PubMed ID: 15123840

Title: The Six1 homeoprotein stimulates tumorigenesis by reactivation of cyclin A1.

PubMed ID: 15123840

DOI: 10.1073/pnas.0401139101

PubMed ID: 17130831

Title: Cell cycle regulation of the human Six1 homeoprotein is mediated by APC(Cdh1).

PubMed ID: 17130831

DOI: 10.1038/sj.onc.1210122

PubMed ID: 26235987

Title: Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development.

PubMed ID: 26235987

DOI: 10.1016/j.ajhg.2015.07.001

PubMed ID: 27923061

Title: Comparative Transcriptomic and Epigenomic Analyses Reveal New Regulators of Murine Brown Adipogenesis.

PubMed ID: 27923061

DOI: 10.1371/journal.pgen.1006474

PubMed ID: 23435380

Title: Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

PubMed ID: 23435380

DOI: 10.1038/nsmb.2505

PubMed ID: 15141091

Title: SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

PubMed ID: 15141091

DOI: 10.1073/pnas.0308475101

PubMed ID: 17637804

Title: Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

PubMed ID: 17637804

DOI: 10.1038/sj.ejhg.5201900

PubMed ID: 18330911

Title: SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

PubMed ID: 18330911

DOI: 10.1002/humu.20714

PubMed ID: 19497856

Title: Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.

PubMed ID: 19497856

DOI: 10.1074/jbc.m109.016832

PubMed ID: 21280147

Title: Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

PubMed ID: 21280147

DOI: 10.1002/humu.21402

Sequence Information:

Length: 284
Mass: 32210
Checksum: A4195376CFB9E3EA
Sequence:

MSMLPSFGFT QEQVACVCEV LQQGGNLERL GRFLWSLPAC DHLHKNESVL KAKAVVAFHR 
GNFRELYKIL ESHQFSPHNH PKLQQLWLKA HYVEAEKLRG RPLGAVGKYR VRRKFPLPRT 
IWDGEETSYC FKEKSRGVLR EWYAHNPYPS PREKRELAEA TGLTTTQVSN WFKNRRQRDR 
AAEAKERENT ENNNSSSNKQ NQLSPLEGGK PLMSSSEEEF SPPQSPDQNS VLLLQGNMGH 
ARSSNYSLPG LTASQPSHGL QTHQHQLQDS LLGPLTSSLV DLGS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: SIX1

Associated with

Cells (max top 100)

Other Information

Cloning of the human SIX1 gene and its assignment to chromosome 14. PubMed ID: 8617500

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Cell cycle-regulated phosphorylation of the human SIX1 homeodomain protein. PubMed ID: 10801845

The Six1 homeoprotein stimulates tumorigenesis by reactivation of cyclin A1. PubMed ID: 15123840

Cell cycle regulation of the human Six1 homeoprotein is mediated by APC(Cdh1). PubMed ID: 17130831

Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development. PubMed ID: 26235987

Comparative Transcriptomic and Epigenomic Analyses Reveal New Regulators of Murine Brown Adipogenesis. PubMed ID: 27923061

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome. PubMed ID: 23435380

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. PubMed ID: 15141091

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. PubMed ID: 17637804

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. PubMed ID: 18330911

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. PubMed ID: 19497856

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. PubMed ID: 21280147