Details for: HNF1A

Gene ID: 6927

Symbol: HNF1A

Ensembl ID: ENSG00000135100

Description: HNF1 homeobox A

Associated with

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 50.9820
    Cell Significance Index: -7.9300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 31.3235
    Cell Significance Index: -7.9500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.4236
    Cell Significance Index: -7.9200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.8450
    Cell Significance Index: 46.0100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.7466
    Cell Significance Index: 332.3900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.0584
    Cell Significance Index: 22.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.0565
    Cell Significance Index: 30.4400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0141
    Cell Significance Index: 100.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8479
    Cell Significance Index: 168.2700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7734
    Cell Significance Index: 46.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7534
    Cell Significance Index: 34.1500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7132
    Cell Significance Index: 77.5800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5938
    Cell Significance Index: 96.5700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.4307
    Cell Significance Index: 6.4900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3939
    Cell Significance Index: 27.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3824
    Cell Significance Index: 44.5600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2670
    Cell Significance Index: 241.1300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2559
    Cell Significance Index: 5.4500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2177
    Cell Significance Index: 13.7200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2169
    Cell Significance Index: 3.2500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.1809
    Cell Significance Index: 2.5700
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.1780
    Cell Significance Index: 1.3500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1652
    Cell Significance Index: 4.1300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1159
    Cell Significance Index: 0.9300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0950
    Cell Significance Index: 1.9700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0870
    Cell Significance Index: 1.4700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0816
    Cell Significance Index: 2.6200
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.0736
    Cell Significance Index: 0.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0629
    Cell Significance Index: 2.2100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0499
    Cell Significance Index: 0.8400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0493
    Cell Significance Index: 0.5100
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0275
    Cell Significance Index: 0.2100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0089
    Cell Significance Index: 0.4600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0038
    Cell Significance Index: 0.6500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0008
    Cell Significance Index: 0.1000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0002
    Cell Significance Index: -0.1500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0031
    Cell Significance Index: -5.9000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0033
    Cell Significance Index: -2.4700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0076
    Cell Significance Index: -5.5800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0077
    Cell Significance Index: -4.2100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0086
    Cell Significance Index: -5.4800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0089
    Cell Significance Index: -16.4800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0103
    Cell Significance Index: -7.8000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0107
    Cell Significance Index: -16.4800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0120
    Cell Significance Index: -6.7700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0121
    Cell Significance Index: -0.3400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0127
    Cell Significance Index: -4.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0134
    Cell Significance Index: -18.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0149
    Cell Significance Index: -9.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0174
    Cell Significance Index: -3.5000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0182
    Cell Significance Index: -5.2300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0189
    Cell Significance Index: -8.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0194
    Cell Significance Index: -3.5100
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.0210
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0252
    Cell Significance Index: -2.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0287
    Cell Significance Index: -2.9300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0332
    Cell Significance Index: -1.5500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0347
    Cell Significance Index: -1.7600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0351
    Cell Significance Index: -5.1000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0356
    Cell Significance Index: -1.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0360
    Cell Significance Index: -4.4300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0379
    Cell Significance Index: -1.6500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0396
    Cell Significance Index: -0.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0470
    Cell Significance Index: -9.9000
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0497
    Cell Significance Index: -0.4300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0502
    Cell Significance Index: -1.2900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0521
    Cell Significance Index: -0.7300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0522
    Cell Significance Index: -1.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0538
    Cell Significance Index: -6.9500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0542
    Cell Significance Index: -7.4400
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0557
    Cell Significance Index: -0.6100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0645
    Cell Significance Index: -1.3500
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: -0.0651
    Cell Significance Index: -0.3100
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0691
    Cell Significance Index: -0.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0723
    Cell Significance Index: -5.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0739
    Cell Significance Index: -4.5300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0764
    Cell Significance Index: -0.5200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0772
    Cell Significance Index: -8.0400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0876
    Cell Significance Index: -1.7100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0876
    Cell Significance Index: -1.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0891
    Cell Significance Index: -6.6400
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.0896
    Cell Significance Index: -0.8100
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0989
    Cell Significance Index: -1.3000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0997
    Cell Significance Index: -1.6000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1018
    Cell Significance Index: -6.5700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1032
    Cell Significance Index: -6.9400
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1059
    Cell Significance Index: -1.4400
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.1126
    Cell Significance Index: -1.2600
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.1176
    Cell Significance Index: -1.6100
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1177
    Cell Significance Index: -1.3000
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1191
    Cell Significance Index: -1.3000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1260
    Cell Significance Index: -1.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1277
    Cell Significance Index: -7.8500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1286
    Cell Significance Index: -1.4600
  • Cell Name: CD141-positive myeloid dendritic cell (CL0002394)
    Fold Change: -0.1323
    Cell Significance Index: -1.4300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1334
    Cell Significance Index: -1.3800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1368
    Cell Significance Index: -10.5000
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1371
    Cell Significance Index: -1.3300
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.1382
    Cell Significance Index: -1.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1387
    Cell Significance Index: -7.2800

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.

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 cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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 cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** HNF1A is a homeobox-containing transcription factor that regulates the expression of genes involved in glucose metabolism, insulin secretion, and organ development. It is primarily expressed in the liver, pancreas, and kidneys, where it plays a critical role in maintaining glucose homeostasis. HNF1A is a transcriptional activator that binds to specific DNA sequences, regulating the expression of target genes involved in glucose metabolism, insulin signaling, and organ development. **Pathways and Functions** HNF1A is involved in various signaling pathways that regulate glucose metabolism, including: 1. **Glucose homeostasis**: HNF1A regulates the expression of genes involved in glucose uptake, storage, and metabolism, ensuring proper glucose homeostasis. 2. **Insulin secretion**: HNF1A is essential for the development and function of pancreatic beta-cells, which produce insulin. 3. **Liver development**: HNF1A plays a crucial role in the development and maturation of hepatocytes, the main cell type of the liver. 4. **Pancreas development**: HNF1A is involved in the development and maturation of pancreatic islets, which produce insulin and other hormones. 5. **Kidney function**: HNF1A regulates the expression of genes involved in glucose reabsorption and utilization in the kidneys. **Clinical Significance** Dysregulation of HNF1A has been implicated in various diseases, including: 1. **Maturity-onset diabetes of the young (MODY)**: HNF1A mutations are a common cause of MODY, a form of diabetes characterized by autosomal dominant inheritance and early-onset insulin-dependent diabetes. 2. **Neonatal diabetes**: HNF1A mutations have also been associated with neonatal diabetes, a rare form of diabetes that occurs in infancy. 3. **Liver disease**: HNF1A mutations have been linked to liver disease, including non-alcoholic fatty liver disease (NAFLD) and liver failure. 4. **Kidney disease**: HNF1A mutations have also been associated with kidney disease, including diabetic nephropathy and kidney failure. In conclusion, HNF1A is a critical transcription factor that regulates glucose homeostasis, insulin secretion, and organ development. Its dysregulation has implications for various diseases, including MODY, neonatal diabetes, liver disease, and kidney disease. Further research is needed to fully understand the mechanisms by which HNF1A regulates glucose metabolism and to develop effective therapeutic strategies for diseases associated with HNF1A dysfunction.

Genular Protein ID: 949867688

Symbol: HNF1A_HUMAN

Name: Hepatocyte nuclear factor 1-alpha

UniProtKB Accession Codes:

P20823 A0A0A0MQU7 A5Z2R8 E0YMJ5 E0YMK0 E0YMK1 E2I9R4 E2I9R5 F5H5U3 Q2M3H2 Q99861

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 1 EMBL 19 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 23 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PCDDB 1 PDB 6 PDBsum 6 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 8 RNAct 1 Reactome 1 RefSeq 2 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1707031

Title: Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse.

PubMed ID: 1707031

DOI: 10.1016/0888-7543(90)90238-p

PubMed ID: 7900999

Title: More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing.

PubMed ID: 7900999

DOI: 10.1002/j.1460-2075.1993.tb06107.x

PubMed ID: 8945470

Title: Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3).

PubMed ID: 8945470

DOI: 10.1038/384455a0

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 14728801

Title: LRH-1/hB1F and HNF1 synergistically up-regulate hepatitis B virus gene transcription and DNA replication.

PubMed ID: 14728801

DOI: 10.1038/sj.cr.7290187

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 38018242

Title: SPOP inhibits HBV transcription and replication by ubiquitination and degradation of HNF1alpha.

PubMed ID: 38018242

DOI: 10.1002/jmv.29254

PubMed ID: 12453420

Title: Diabetes mutations delineate an atypical POU domain in HNF-1alpha.

PubMed ID: 12453420

DOI: 10.1016/s1097-2765(02)00704-9

PubMed ID: 16930618

Title: Diabetes mellitus due to misfolding of a beta-cell transcription factor: stereospecific frustration of a Schellman motif in HNF-1alpha.

PubMed ID: 16930618

DOI: 10.1016/j.jmb.2006.06.086

PubMed ID: 9166684

Title: Novel mutations and a mutational hotspot in the MODY3 gene.

PubMed ID: 9166684

DOI: 10.2337/diab.46.6.1081

PubMed ID: 9287053

Title: Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.

PubMed ID: 9287053

DOI: 10.2337/diab.46.9.1504

PubMed ID: 9287055

Title: Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects.

PubMed ID: 9287055

DOI: 10.2337/diab.46.9.1512

PubMed ID: 9313763

Title: Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM.

PubMed ID: 9313763

DOI: 10.2337/diacare.46.10.1643

PubMed ID: 9392505

Title: An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young).

PubMed ID: 9392505

DOI: 10.2337/diab.46.12.2108

PubMed ID: 9032114

Title: Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

PubMed ID: 9032114

DOI: 10.2337/diab.46.3.528

PubMed ID: 9075818

Title: Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.

PubMed ID: 9075818

DOI: 10.2337/diab.46.4.720

PubMed ID: 9075819

Title: Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.

PubMed ID: 9075819

DOI: 10.2337/diab.46.4.726

PubMed ID: 9133564

Title: A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge.

PubMed ID: 9133564

DOI: 10.2337/diab.46.5.912

PubMed ID: 9112026

Title: Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM.

PubMed ID: 9112026

DOI: 10.1007/s001250050703

PubMed ID: 9097962

Title: Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).

PubMed ID: 9097962

DOI: 10.1093/hmg/6.4.583

PubMed ID: 9604876

Title: Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews.

PubMed ID: 9604876

DOI: 10.2337/diabetes.47.6.967

PubMed ID: 9754819

Title: Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.

PubMed ID: 9754819

DOI: 10.1007/s001250051025

PubMed ID: 9867222

Title: Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having type I diabetes.

PubMed ID: 9867222

DOI: 10.1007/s001250051101

PubMed ID: 9626139

Title: Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10.

PubMed ID: 9626139

DOI: 10.1210/jcem.83.6.4874

PubMed ID: 9621514

Title: Mutations in the hepatocyte nuclear factor-1 alpha gene 'MODY3' are not a major cause of early-onset non-insulin-dependent 'type 2' diabetes mellitus in Japanese.

PubMed ID: 9621514

DOI: 10.1007/s100380050049

PubMed ID: 10078571

Title: Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

PubMed ID: 10078571

DOI: 10.2337/diabetes.48.3.645

PubMed ID: 10102714

Title: Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.

PubMed ID: 10102714

DOI: 10.2337/diabetes.48.4.921

PubMed ID: 10333057

Title: Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.

PubMed ID: 10333057

DOI: 10.1007/s001250051204

PubMed ID: 10588527

Title: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

PubMed ID: 10588527

DOI: 10.1046/j.1464-5491.1999.00188.x

PubMed ID: 10482964

Title: Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.

PubMed ID: 10482964

DOI: 10.1038/sj.ejhg.5200358

PubMed ID: 10084598

Title: The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree.

PubMed ID: 10084598

DOI: 10.1210/jcem.84.3.5528

PubMed ID: 10966642

Title: Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha.

PubMed ID: 10966642

DOI: 10.1038/78966

PubMed ID: 12355088

Title: Bi-allelic inactivation of TCF1 in hepatic adenomas.

PubMed ID: 12355088

DOI: 10.1038/ng1001

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17573900

Title: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

PubMed ID: 17573900

DOI: 10.1111/j.1365-2265.2007.02921.x

Sequence Information:

  • Length: 631
  • Mass: 67386
  • Checksum: 8333D94FC82D254A
  • Sequence:
    • MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL 
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK 
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA 
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE 
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP 
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH 
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA 
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV 
QSHVTQSPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK 
QVFTSDTEAS SESGLHTPAS QATTLHVPSQ DPASIQHLQP AHRLSASPTV SSSSLVLYQS 
SDSSNGQSHL LPSNHSVIET FISTQMASSS Q

Genular Protein ID: 63897964

Symbol: E0YMI7_HUMAN

Name: N/A

UniProtKB Accession Codes:

E0YMI7

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 2 InterPro 10 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 3 ProteomicsDB 1 RefSeq 2 SAM 1 SMART 1 SUPFAM 3

Sequence Information:

  • Length: 603
  • Mass: 64410
  • Checksum: A175C41F3D01BB9F
  • Sequence:
    • MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL 
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK 
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA 
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE 
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP 
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH 
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA 
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV 
QSHVTQSPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK 
QVFTSDTEAS SESGLHTPAS QATTLHVPSQ DPASIQHLQP AHRLSASPTV SSSSLVLYQS 
LGL

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.