HNF1A

Protein identityUniProt · HPA

UniProt accession

P20823

Gene

HNF1A

Canonical length

631 aa

Protein class

Cancer-related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

No narrative summary is available for HNF1A in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

631 residues, UniProt reviewed canonical sequence.

>P20823|HNF1A
     1  MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL
    61  PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK
   121  SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA
   181  GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE
   241  CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
   301  AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH
   361  SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA
   421  SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV
   481  QSHVTQSPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK
   541  QVFTSDTEAS SESGLHTPAS QATTLHVPSQ DPASIQHLQP AHRLSASPTV SSSSLVLYQS
   601  SDSSNGQSHL LPSNHSVIET FISTQMASSS Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HNF1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HNF1A.

Disease | AllUniProt

Conditions HNF1A is implicated in, by any mechanism.

• Hepatic adenomas familial (HEPAF) MIM:142330
• Maturity-onset diabetes of the young 3 (MODY3) MIM:600496
• Type 1 diabetes mellitus 20 (T1D20) MIM:612520

Disease | GeneticClinVar

393 pathogenic / likely-pathogenic of 1,227 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Monogenic diabetes
• Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young type 3
• HNF1A-related disorder
• 6 conditions

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.33

gnomAD pLI

0.96

gnomAD missense Z

1.14

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• D-glucose import
• glucose homeostasis
• insulin secretion
• liver development
• pancreas development
• positive regulation of DNA-templated transcription
• positive regulation of transcription by RNA polymerase II
• positive regulation of transcription initiation by RNA polymerase II
• regulation of transcription by RNA polymerase II
• renal D-glucose absorption

Molecular functions

• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein dimerization activity
• protein heterodimerization activity
• protein homodimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• cytoplasm
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Hepatocyte nuclear factor 1, beta isoform, C-terminal
• Hepatocyte nuclear factor 1, N-terminal
• Homedomain-like superfamily
• Lambda repressor-like, DNA-binding domain superfamily
• Hepatocyte nuclear factor 1, N-terminal domain superfamily
• Hepatocyte nuclear factor 1
• HNF-1, dimerization domain
• HNF-1, POU-specific (POUs) atypical domain
• Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
• Hepatocyte nuclear factor 1 (HNF-1), N terminus
• Hepatocyte nuclear factor 1, alpha isoform C-terminal
• Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus

KeywordsUniProt

• Activator
• Diabetes mellitus
• DNA-binding
• Homeobox
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of HNF1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BHLHE41
• NR5A2
• PCBD1
• SPOP
• SIRT1
• HMGB1