DACH1 (dachshund family transcription factor 1)

Gene

• Entrez ID: 1602
• Gene name: Dachshund family transcription factor 1
• Gene symbol: DACH1
• Synonyms (NCBI Gene): DACH
• Chromosome: 13
• Chromosome location: 13q21.33
• Summary: This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Droso

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018559	hsa-miR-335-5p	Microarray	18185580
MIRT054838	hsa-miR-217	Luciferase reporter assay/Western blot, qRT-PCR	25653720
MIRT734493	hsa-miR-552-3p	ChIP-seq, Immunohistochemistry (IHC), In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	33867818
MIRT922624	hsa-miR-15a	CLIP-seq
MIRT922625	hsa-miR-15b	CLIP-seq
MIRT922626	hsa-miR-16	CLIP-seq
MIRT922627	hsa-miR-195	CLIP-seq
MIRT922628	hsa-miR-198	CLIP-seq
MIRT922629	hsa-miR-2052	CLIP-seq
MIRT922630	hsa-miR-2113	CLIP-seq
MIRT922631	hsa-miR-300	CLIP-seq
MIRT922632	hsa-miR-325	CLIP-seq
MIRT922633	hsa-miR-338-3p	CLIP-seq
MIRT922634	hsa-miR-3685	CLIP-seq
MIRT922635	hsa-miR-381	CLIP-seq
MIRT922636	hsa-miR-384	CLIP-seq
MIRT922637	hsa-miR-424	CLIP-seq
MIRT922638	hsa-miR-4282	CLIP-seq
MIRT922639	hsa-miR-4418	CLIP-seq
MIRT922640	hsa-miR-4511	CLIP-seq
MIRT922641	hsa-miR-4530	CLIP-seq
MIRT922642	hsa-miR-4536	CLIP-seq
MIRT922643	hsa-miR-4666-3p	CLIP-seq
MIRT922644	hsa-miR-4699-5p	CLIP-seq
MIRT922645	hsa-miR-4709-3p	CLIP-seq
MIRT922646	hsa-miR-497	CLIP-seq
MIRT922647	hsa-miR-500a	CLIP-seq
MIRT922648	hsa-miR-509-3-5p	CLIP-seq
MIRT922649	hsa-miR-509-5p	CLIP-seq
MIRT922650	hsa-miR-513a-3p	CLIP-seq
MIRT922651	hsa-miR-548b-3p	CLIP-seq
MIRT922652	hsa-miR-618	CLIP-seq
MIRT922653	hsa-miR-628-3p	CLIP-seq
MIRT922654	hsa-miR-3658	CLIP-seq
MIRT922655	hsa-miR-4426	CLIP-seq
MIRT922640	hsa-miR-4511	CLIP-seq
MIRT922656	hsa-miR-4647	CLIP-seq
MIRT922657	hsa-miR-4662b	CLIP-seq
MIRT922643	hsa-miR-4666-3p	CLIP-seq
MIRT922658	hsa-miR-485-3p	CLIP-seq
MIRT922659	hsa-miR-487a	CLIP-seq
MIRT922651	hsa-miR-548b-3p	CLIP-seq
MIRT922660	hsa-miR-590-3p	CLIP-seq
MIRT1973311	hsa-miR-1246	CLIP-seq
MIRT1973312	hsa-miR-1290	CLIP-seq
MIRT922629	hsa-miR-2052	CLIP-seq
MIRT1973313	hsa-miR-3157-5p	CLIP-seq
MIRT1973314	hsa-miR-3167	CLIP-seq
MIRT922640	hsa-miR-4511	CLIP-seq
MIRT1973315	hsa-miR-4691-3p	CLIP-seq
MIRT1973316	hsa-miR-4802-3p	CLIP-seq
MIRT1973317	hsa-miR-490-5p	CLIP-seq
MIRT922651	hsa-miR-548b-3p	CLIP-seq
MIRT1973318	hsa-miR-548c-3p	CLIP-seq
MIRT1973319	hsa-miR-876-5p	CLIP-seq
MIRT922640	hsa-miR-4511	CLIP-seq
MIRT922651	hsa-miR-548b-3p	CLIP-seq
MIRT2208918	hsa-miR-548n	CLIP-seq
MIRT2208919	hsa-miR-548t	CLIP-seq
MIRT922631	hsa-miR-300	CLIP-seq
MIRT922635	hsa-miR-381	CLIP-seq
MIRT922640	hsa-miR-4511	CLIP-seq
MIRT922643	hsa-miR-4666-3p	CLIP-seq
MIRT922651	hsa-miR-548b-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Repression	22902925
SMAD4	Repression	14525983

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	20956529
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	20956529
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	20956529
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	20956529
GO:0001967	Process	Suckling behavior	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	14525983, 16189514, 20956529, 21516116, 25416956, 32296183, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	IMP	20956529
GO:0016607	Component	Nuclear speck	IDA
GO:0030336	Process	Negative regulation of cell migration	IDA	20956529
GO:0033262	Process	Regulation of nuclear cell cycle DNA replication	IEA
GO:0044342	Process	Type B pancreatic cell proliferation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	21750150
GO:0046545	Process	Development of primary female sexual characteristics	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0060244	Process	Negative regulation of cell proliferation involved in contact inhibition	IEA
GO:2000279	Process	Negative regulation of DNA biosynthetic process	IDA	16980615

Other IDs

• MIM: 603803
• HGNC: 2663
• e!Ensembl: ENSG00000276644

Protein

• UniProt ID: Q9UI36
• Protein name: Dachshund homolog 1 (Dach1)
• Protein function: Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of E
• PDB: 1L8R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02437	Ski_Sno	172 → 281	SKI/SNO/DAC family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Isoform 2 is found in brain, heart, kidney, liver, leukocytes and spleen. Isoform 3 is found in liver and heart. Isoform 4 is found in spleen. {ECO:0000269|PubMed:11543628}.
• Sequence:

  MAVPAALIPPTQLVPPQPPISTSASSSGTTTSTSSATSSPAPSIGPPASSGPTLFRPEPI
  ASAAAAAATVTSTGGGGGGGGSGGGGGSSGNGGGGGGGGGGSNCNPNLAAASNGSGGGGG
  GISAGGGVASSTPINASTGSSSSSSSSSSSSSSSSSSSSSSSSCGPLPGKPVYSTPSPVE
  NTPQNNECKMVDLRGAKVASFTVEGCELICLPQAFDLFLKHLVGGLHTVYTKLKRLEITP
  VVCNVEQVRILRGLGAIQPGVNRCKLISRKDFETLYNDCTNASSRPGRPPKRTQSVTSPE
  NSHIMPHSVPGLMSPGIIPPTGLTAAAAAAAAATNAAIAEAMKVKKIKLEAMSNYHASNN
  QHGADSENGDMNSSVGSSDGSWDKETLPSSPSQGPQASITHPRMPGARSLPLSHPLNHLQ
  QSHLLPNGLELPFMMMPHPLIPVSLPPASVTMAMSQMNHLSTIANMAAAAQVQSPPSRVE
  TSVIKERVPDSPSPAPSLEEGRRPGSHPSSHRSSSVSSSPARTESSSDRIPVHQNGLSMN
  QMLMGLSPNVLPGPKEGDLAGHDMGHESKRMHIEKDETPLSTPTARDSLDKLSLTGHGQP
  LPPGFPSPFLFPDGLSSIETLLTNIQGLLKVAIDNARAQEKQVQLEKTELKMDFLREREL
  RETLEKQLAMEQKNRAIVQKRLKKEKKAKRKLQEALEFETKRREQAEQTLKQAASTDSLR
  VLNDSLTPEIEADRSGGRTDAERTIQDGRLYLKTTVMY

• Sequence length: 758

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25788272, 26810067, 29590536, 29636079, 31503425		★☆☆☆☆ Found in Text Mining only
Branchio-Oto-Renal Syndrome	Branchiootorenal Syndrome	BEFREE	11950062		★☆☆☆☆ Found in Text Mining only
Breast cancer, lobular	Breast Cancer	BEFREE	24392136		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16980615, 18467491, 19605405, 20937839, 23798621, 24335958, 24392136, 27129776, 27916422, 28659634, 30554919		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14525983, 19605405, 24392136, 27993161, 35097124	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23798621, 28659634	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24472434, 28659634	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24472434		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25940701	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23492369, 25788272, 26810067, 29590536		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	29478945		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24465431		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24465431	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	30335165	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	20383146, 22479191		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24149323, 24912879, 28927149		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24472434	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31450919	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18639284		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24465431	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	24465431	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	11543628		★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	36454308	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24465431, 32569224, 36585034, 37766305	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24465431	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32408786	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24149323, 31215145		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32569224, 33378353	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24743895		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24743895		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36247858	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21750150, 26337424, 30271168, 30527681		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	27888806, 33313942	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24465431	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27888806, 33998596	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	23262432	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	20383146		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	30261897		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18719197		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	25487617		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23787902, 24743895, 25940701, 29333942		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26683690, 26810067	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30261897	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36247858	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16980615, 18467491, 19605405, 20937839, 23798621, 24335958, 24392136, 27129776, 27916422, 28659634, 30554919		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24149323		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24743895		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23492369, 25788272, 26810067, 29590536		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27278537		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19351840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24912879		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24392136, 27129776, 27278537, 28659634, 30271168, 30554919		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19901965		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16980615		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33378353	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	22902925		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30431444		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19605405, 21750150, 23492369, 23787902, 24149323, 24392136, 24398877, 24743895, 24912879, 25788272, 25940701, 26810067, 27129776, 28659634, 28927149, 29333942, 29478945, 29590536, 29636079, 30261897, 30271168, 30431444, 30691681		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	27888806	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	19901965		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23492369, 25788272, 29590536, 29636079		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25609655		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	25487617	Associate	★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical Syndrome	BEFREE	23851939		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27278537		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33867818, 34389782	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	34022343	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	34022343	Associate	★☆☆☆☆ Found in Text Mining only
Postaxial polydactyly type A	Polydactyly	BEFREE	11543628		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19351840		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	37095257	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19351840	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33378353, 37095257	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	39344312	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18639284		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18639284		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	23262432		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	23262432		★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	23262432	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30364292		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30261897	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24912879		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18957060		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24589339	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	33378353	Associate	★☆☆☆☆ Found in Text Mining only