HNF1A - Gene info - The Human Protein Atlas

Gene name

HNF1A (HGNC Symbol)

Synonyms

HCF-1A, HNF1, LFB1, MODY3, TCF1

Description

HNF1 homeobox A (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq, Mar 2009]

Chromosome

Cytoband

q24.31

Chromosome location (bp)

121416346 - 121440315

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135100 (version 75.37)

Entrez gene

6927

UniProt

P20823 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HNF1A-001

ENSP00000257555
ENST00000257555

E0YMJ1
Show all » « Hide

E0YMJ1 [Target identity:35%; Query identity:100%]
HNF1 alpha A splice variant 5
E0YMJ2 [Target identity:28%; Query identity:100%]
HNF1 alpha A splice variant 6
B8YNU9 [Target identity:17%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha
B8YNW1 [Target identity:12%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Somatic Mutations
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription]
GO:0001750 [photoreceptor outer segment]
GO:0001824 [blastocyst development]
GO:0001889 [liver development]
GO:0001890 [placenta development]
GO:0003677 [DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006633 [fatty acid biosynthetic process]
GO:0006699 [bile acid biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006979 [response to oxidative stress]
GO:0008104 [protein localization]
GO:0008134 [transcription factor binding]
GO:0008203 [cholesterol metabolic process]
GO:0009749 [response to glucose stimulus]
GO:0015721 [bile acid and bile salt transport]
GO:0015908 [fatty acid transport]
GO:0030073 [insulin secretion]
GO:0030111 [regulation of Wnt signaling pathway]
GO:0030326 [embryonic limb morphogenesis]
GO:0031018 [endocrine pancreas development]
GO:0035623 [renal glucose absorption]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043565 [sequence-specific DNA binding]
GO:0043691 [reverse cholesterol transport]
GO:0045120 [pronucleus]
GO:0045453 [bone resorption]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046323 [glucose import]
GO:0046883 [regulation of hormone secretion]
GO:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
GO:0048341 [paraxial mesoderm formation]
GO:0048608 [reproductive structure development]
GO:0050796 [regulation of insulin secretion]
GO:0060395 [SMAD protein signal transduction]

631

67.4

HNF1A-002

ENSP00000476181
ENST00000400024

U3KQS6
Show all » « Hide

U3KQS6 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 1-alpha; Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor, isoform CRA_b
E0YMK2 [Target identity:25%; Query identity:100%]
HNF1 alpha B splice variant 3; HNF1 alpha B splice variant 5
B8YNU9 [Target identity:19%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha
B8YNW1 [Target identity:14%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

GO:0003677 [DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]

542

HNF1A-003

ENSP00000475300
ENST00000402929

U3KPW5
Show all » « Hide

U3KPW5 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 1-alpha
B8YNU9 [Target identity:20%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha
B8YNW1 [Target identity:15%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

520

55.9

HNF1A-014

ENSP00000440361
ENST00000541924

P20823
Show all » « Hide

P20823 [Direct mapping]
Hepatocyte nuclear factor 1-alpha
B8YNU9 [Target identity:43%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Somatic Mutations
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription]
GO:0001750 [photoreceptor outer segment]
GO:0001824 [blastocyst development]
GO:0001889 [liver development]
GO:0001890 [placenta development]
GO:0003677 [DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0006338 [chromatin remodeling]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006633 [fatty acid biosynthetic process]
GO:0006699 [bile acid biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006979 [response to oxidative stress]
GO:0008104 [protein localization]
GO:0008134 [transcription factor binding]
GO:0008203 [cholesterol metabolic process]
GO:0009749 [response to glucose stimulus]
GO:0015721 [bile acid and bile salt transport]
GO:0015908 [fatty acid transport]
GO:0030073 [insulin secretion]
GO:0030111 [regulation of Wnt signaling pathway]
GO:0030326 [embryonic limb morphogenesis]
GO:0031018 [endocrine pancreas development]
GO:0035623 [renal glucose absorption]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043234 [protein complex]
GO:0043565 [sequence-specific DNA binding]
GO:0043691 [reverse cholesterol transport]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045120 [pronucleus]
GO:0045453 [bone resorption]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046323 [glucose import]
GO:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
GO:0048341 [paraxial mesoderm formation]
GO:0048608 [reproductive structure development]
GO:0050796 [regulation of insulin secretion]
GO:0060261 [positive regulation of transcription initiation from RNA polymerase II promoter]
GO:0060395 [SMAD protein signal transduction]

247

27.5

HNF1A-015

ENSP00000443964
ENST00000538646

P20823
Show all » « Hide

P20823 [Direct mapping]
Hepatocyte nuclear factor 1-alpha
B8YNU9 [Target identity:38%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription]
GO:0001750 [photoreceptor outer segment]
GO:0001824 [blastocyst development]
GO:0001889 [liver development]
GO:0001890 [placenta development]
GO:0003677 [DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0006338 [chromatin remodeling]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006633 [fatty acid biosynthetic process]
GO:0006699 [bile acid biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006979 [response to oxidative stress]
GO:0008104 [protein localization]
GO:0008134 [transcription factor binding]
GO:0008203 [cholesterol metabolic process]
GO:0009749 [response to glucose stimulus]
GO:0015721 [bile acid and bile salt transport]
GO:0015908 [fatty acid transport]
GO:0030073 [insulin secretion]
GO:0030111 [regulation of Wnt signaling pathway]
GO:0030326 [embryonic limb morphogenesis]
GO:0031018 [endocrine pancreas development]
GO:0035623 [renal glucose absorption]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043234 [protein complex]
GO:0043565 [sequence-specific DNA binding]
GO:0043691 [reverse cholesterol transport]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045120 [pronucleus]
GO:0045453 [bone resorption]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046323 [glucose import]
GO:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
GO:0048341 [paraxial mesoderm formation]
GO:0048608 [reproductive structure development]
GO:0050796 [regulation of insulin secretion]
GO:0060261 [positive regulation of transcription initiation from RNA polymerase II promoter]
GO:0060395 [SMAD protein signal transduction]

278

30.4

HNF1A-016

ENSP00000438565
ENST00000544574

F5H3Z5
Show all » « Hide

F5H3Z5 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 1-alpha

Show » « Hide

   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Somatic Mutations
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

4.4

HNF1A-017

ENSP00000476210
ENST00000538626

E0YMK3
Show all » « Hide

E0YMK3 [Target identity:100%; Query identity:100%]
HNF1 alpha B splice variant 6; Hepatocyte nuclear factor 1-alpha

Show » « Hide

GO:0005634 [nucleus]
GO:0045893 [positive regulation of transcription, DNA-templated]

124

13.3

HNF1A-020

ENSP00000475403
ENST00000535955

U3KQ02
Show all » « Hide

U3KQ02 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 1-alpha

Show » « Hide

GO:0005634 [nucleus]
GO:0045893 [positive regulation of transcription, DNA-templated]

114

12.3

HNF1A-023

ENSP00000443112
ENST00000541395

F5H5U3
Show all » « Hide

F5H5U3 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 1-alpha
B8YNU9 [Target identity:16%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha
B8YNW1 [Target identity:12%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

662

70.7

HNF1A-024

ENSP00000445445
ENST00000540108

E2I9R5
Show all » « Hide

E2I9R5 [Target identity:100%; Query identity:100%]
HNF1A homeobox A delta 2; Hepatocyte nuclear factor 1-alpha
B8YNU9 [Target identity:90%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0045893 [positive regulation of transcription, DNA-templated]

119

12.5

HNF1A-025

ENSP00000438804
ENST00000544413

F5H0K0
Show all » « Hide

F5H0K0 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 1-alpha
B8YNU9 [Target identity:16%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha
B8YNW1 [Target identity:12%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

638

68.1

HNF1A-027

ENSP00000453965
ENST00000560968

E0YMI8
Show all » « Hide

E0YMI8 [Target identity:86%; Query identity:100%]
HNF1 alpha A splice variant 2
B8YNU9 [Target identity:30%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0045893 [positive regulation of transcription, DNA-templated]

356

39.3

HNF1A-201

ENSP00000439721
ENST00000543427

P20823
Show all » « Hide

P20823 [Direct mapping]
Hepatocyte nuclear factor 1-alpha
B8YNW1 [Target identity:19%; Query identity:100%]
Hepatocyte nuclear factor 1 alpha

Show » « Hide

GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription]
GO:0001750 [photoreceptor outer segment]
GO:0001824 [blastocyst development]
GO:0001889 [liver development]
GO:0001890 [placenta development]
GO:0003677 [DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006633 [fatty acid biosynthetic process]
GO:0006699 [bile acid biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006979 [response to oxidative stress]
GO:0008104 [protein localization]
GO:0008134 [transcription factor binding]
GO:0008203 [cholesterol metabolic process]
GO:0009749 [response to glucose stimulus]
GO:0015721 [bile acid and bile salt transport]
GO:0015908 [fatty acid transport]
GO:0030073 [insulin secretion]
GO:0030111 [regulation of Wnt signaling pathway]
GO:0030326 [embryonic limb morphogenesis]
GO:0031018 [endocrine pancreas development]
GO:0035623 [renal glucose absorption]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043234 [protein complex]
GO:0043565 [sequence-specific DNA binding]
GO:0043691 [reverse cholesterol transport]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045120 [pronucleus]
GO:0045453 [bone resorption]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046323 [glucose import]
GO:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
GO:0048341 [paraxial mesoderm formation]
GO:0048608 [reproductive structure development]
GO:0050796 [regulation of insulin secretion]
GO:0060261 [positive regulation of transcription initiation from RNA polymerase II promoter]
GO:0060395 [SMAD protein signal transduction]

403

43.5

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.