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    HNF1B HNF1 homeobox B [ Homo sapiens (human) ]

    Gene ID: 6928, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HNF1Bprovided by HGNC
    Official Full Name
    HNF1 homeobox Bprovided by HGNC
    Primary source
    HGNC:HGNC:11630
    See related
    Ensembl:ENSG00000275410 MIM:189907; AllianceGenome:HGNC:11630
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    T2D; FJHN; HNF2; LFB3; RCAD; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; ADTKD3; HNF-1B; HNF1beta; HNF-1-beta
    Summary
    This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
    Expression
    Biased expression in kidney (RPKM 16.9), gall bladder (RPKM 7.3) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HNF1B in Genome Data Viewer
    Location:
    17q12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (37686431..37745059, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38673401..38732032, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36046434..36105050, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene microRNA 378j Neighboring gene DExD-box helicase 52 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36001021-36001522 Neighboring gene uncharacterized LOC105371756 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:36057789-36058988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36060550-36061050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36061051-36061551 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:36062200-36063399 Neighboring gene uncharacterized LOC124903989 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36068100-36068600 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:36070779-36071300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36071301-36071822 Neighboring gene uncharacterized LOC105371754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36083205-36083705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36090926-36091594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36091595-36092261 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36101632-36102136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36102137-36102641 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36155829-36156606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36156607-36157382 Neighboring gene uncharacterized LOC105371757 Neighboring gene Sharpr-MPRA regulatory region 14078 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36185958-36186705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36202981-36203480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36203816-36204316 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression of bile duct transcription factor HNF1β predicts early tumor recurrence and is a stage-independent prognostic factor in hepatocellular carcinoma. Yuan RH, et al. J Gastrointest Surg, 2014 Oct. PMID 25052070
    2. Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. Kotalova R, et al. World J Gastroenterol, 2015 Feb 28. PMID 25741167, Free PMC Article
    3. Renal involvement in children with HNF1β mutation: early sonographic appearances and long-term follow-up. Avni FE, et al. Eur Radiol, 2015 May. PMID 25638216
    4. HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Clissold RL, et al. Nat Rev Nephrol, 2015 Feb. PMID 25536396
    5. Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. Raaijmakers A, et al. Nephrol Dial Transplant, 2015 May. PMID 25500806

    See all (307) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HNF1beta bookmarking involves Topoisomerase 1 activation and DNA topology relaxation in mitotic chromatin.
      Title: HNF1β bookmarking involves Topoisomerase 1 activation and DNA topology relaxation in mitotic chromatin.
    2. HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis.
      Title: HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis.
    3. A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B.
      Title: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B.
    4. Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.
      Title: Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.
    5. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
      Title: Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
    6. Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.
      Title: Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.
    7. Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.
      Title: Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.
    8. Dysregulation of HNF1B/Clusterin axis enhances disease progression in a highly aggressive subset of pancreatic cancer patients.
      Title: Dysregulation of HNF1B/Clusterin axis enhances disease progression in a highly aggressive subset of pancreatic cancer patients.
    9. HNF1B-driven three-dimensional chromatin structure for molecular classification in pancreatic cancers.
      Title: HNF1B-driven three-dimensional chromatin structure for molecular classification in pancreatic cancers.
    10. Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Kuster-Hauser syndrome.
      Title: Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (236)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-12-21)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-21)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
    EBI GWAS Catalog
    Genetic correction of PSA values using sequence variants associated with PSA levels.
    EBI GWAS Catalog
    Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.
    EBI GWAS Catalog
    Genome-wide association scan for variants associated with early-onset prostate cancer.
    EBI GWAS Catalog
    Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
    EBI GWAS Catalog
    Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
    EBI GWAS Catalog
    Genome-wide association study identifies new prostate cancer susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    EBI GWAS Catalog
    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
    EBI GWAS Catalog
    Multiple loci identified in a genome-wide association study of prostate cancer.
    EBI GWAS Catalog
    Multiple newly identified loci associated with prostate cancer susceptibility.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog
    Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coregulator binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endocrine pancreas development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endodermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in genitalia development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in hepatoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hindbrain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner cell mass cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mesenchymal cell apoptotic process involved in metanephros development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesonephric duct formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mesenchymal cell apoptotic process involved in metanephros development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pancreas development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription initiation by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pronephric nephron tubule development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in pronephros development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of branch elongation involved in ureteric bud branching IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of pronephros size IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ureteric bud elongation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    hepatocyte nuclear factor 1-beta
    Names
    HNF1 beta A
    homeoprotein LFB3
    transcription factor 2, hepatic

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013019.2 RefSeqGene

      Range
      5048..63676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000458.4 → NP_000449.1  hepatocyte nuclear factor 1-beta isoform 1

      See identical proteins and their annotated locations for NP_000449.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC017714
      Consensus CDS
      CCDS11324.1
      UniProtKB/Swiss-Prot
      B4DKM3, E0YMJ9, P35680
      UniProtKB/TrEMBL
      Q6FHW6
      Related
      ENSP00000480291.1, ENST00000617811.5
      Conserved Domains (3) summary
      cd00086
      Location:232 → 305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314 → 550
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8 → 173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    2. NM_001165923.4 → NP_001159395.1  hepatocyte nuclear factor 1-beta isoform 2

      See identical proteins and their annotated locations for NP_001159395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK296633, BC017714
      Consensus CDS
      CCDS58538.1
      UniProtKB/TrEMBL
      E0YMJ6
      Related
      ENSP00000482711.1, ENST00000621123.4
      Conserved Domains (3) summary
      cd00086
      Location:206 → 279
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:288 → 524
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8 → 173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    3. NM_001304286.2 → NP_001291215.1  hepatocyte nuclear factor 1-beta isoform 3

      See identical proteins and their annotated locations for NP_001291215.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR, uses an alternate in-frame splice site in the central coding region, and lacks two alternate exons in the 3' coding region, resulting in a frameshift compared to variant 1. The resulting isoform (3) is shorter, and contains a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC017714, HM116556, X58840
      Consensus CDS
      CCDS77007.1
      UniProtKB/TrEMBL
      A0A0C4DGS8, E0YMJ8
      Related
      ENSP00000477524.1, ENST00000613727.4
      Conserved Domains (3) summary
      cd00086
      Location:206 → 279
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:288 → 426
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8 → 173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    4. NM_001411100.1 → NP_001398029.1  hepatocyte nuclear factor 1-beta isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC243571
      Consensus CDS
      CCDS92293.1
      UniProtKB/TrEMBL
      A0A087WZC2
      Related
      ENSP00000482529.1, ENST00000614313.4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      37686431..37745059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436630.1 → XP_047292586.1  hepatocyte nuclear factor 1-beta isoform X3

      UniProtKB/TrEMBL
      E0YMJ8

    2. XM_011525164.1 → XP_011523466.1  hepatocyte nuclear factor 1-beta isoform X1

      See identical proteins and their annotated locations for XP_011523466.1

      Conserved Domains (3) summary
      cd00086
      Location:206 → 279
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:288 → 488
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8 → 173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    3. XM_011525161.1 → XP_011523463.1  hepatocyte nuclear factor 1-beta isoform X2

      See identical proteins and their annotated locations for XP_011523463.1

      UniProtKB/TrEMBL
      E0YMJ8
      Conserved Domains (3) summary
      cd00086
      Location:232 → 305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314 → 485
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8 → 173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    4. XM_047436631.1 → XP_047292587.1  hepatocyte nuclear factor 1-beta isoform X5

    5. XM_011525162.3 → XP_011523464.1  hepatocyte nuclear factor 1-beta isoform X4

      See identical proteins and their annotated locations for XP_011523464.1

      UniProtKB/TrEMBL
      E0YMJ8
      Conserved Domains (3) summary
      cd00086
      Location:232 → 305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314 → 363
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8 → 173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    6. XM_011525163.3 → XP_011523465.1  hepatocyte nuclear factor 1-beta isoform X6

      See identical proteins and their annotated locations for XP_011523465.1

      UniProtKB/TrEMBL
      E0YMJ8
      Conserved Domains (3) summary
      cd00086
      Location:232 → 305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314 → 349
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8 → 173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1925499..1984115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329318.1 → XP_054185293.1  hepatocyte nuclear factor 1-beta isoform X1

    2. XM_054329319.1 → XP_054185294.1  hepatocyte nuclear factor 1-beta isoform X2

      UniProtKB/TrEMBL
      E0YMJ8

    3. XM_054329321.1 → XP_054185296.1  hepatocyte nuclear factor 1-beta isoform X5

    4. XM_054329320.1 → XP_054185295.1  hepatocyte nuclear factor 1-beta isoform X4

      UniProtKB/TrEMBL
      E0YMJ8

    5. XM_054329322.1 → XP_054185297.1  hepatocyte nuclear factor 1-beta isoform X6

      UniProtKB/TrEMBL
      E0YMJ8

    6. XM_054329323.1 → XP_054185298.1  hepatocyte nuclear factor 1-beta isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      38673401..38732032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317027.1 → XP_054173002.1  hepatocyte nuclear factor 1-beta isoform X3

      UniProtKB/TrEMBL
      E0YMJ8

    2. XM_054317025.1 → XP_054173000.1  hepatocyte nuclear factor 1-beta isoform X1

    3. XM_054317026.1 → XP_054173001.1  hepatocyte nuclear factor 1-beta isoform X2

      UniProtKB/TrEMBL
      E0YMJ8

    4. XM_054317029.1 → XP_054173004.1  hepatocyte nuclear factor 1-beta isoform X5

    5. XM_054317028.1 → XP_054173003.1  hepatocyte nuclear factor 1-beta isoform X4

      UniProtKB/TrEMBL
      E0YMJ8

    6. XM_054317030.1 → XP_054173005.1  hepatocyte nuclear factor 1-beta isoform X6

      UniProtKB/TrEMBL
      E0YMJ8

    7. XM_054317031.1 → XP_054173006.1  hepatocyte nuclear factor 1-beta isoform X8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006481.1: Suppressed sequence

      Description
      NM_006481.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35680.1 GenPept UniProtKB/Swiss-Prot:P35680

    Gene LinkOut

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