Gene: HNF1A ENSG00000135100

Description

HNF1 homeobox A [Source:HGNC Symbol;Acc:11621]

Gene Synonyms

HNF-1A, HNF1, IDDM20, LFB1, MODY3, TCF-1, TCF1

Location

Chromosome 12: 121,416,346-121,440,315 forward strand.

GRCh37:CM000674.1

About this gene

This gene has 14 transcripts (splice variants), 1 paralogue and is associated with 76 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000257555.6	HNF1A-001	3442	631aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9209	B8YNU9 B8YNW1 E0YMJ1 E0YMJ2	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000541395.1	HNF1A-023	3332	662aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8YNU9 B8YNW1 F5H5U3	NM_000545.5	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000402929.1	HNF1A-003	3002	520aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8YNU9 B8YNW1 U3KPW5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000400024.2	HNF1A-002	2337	542aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8YNU9 B8YNW1 E0YMK2 U3KQS6	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000544413.1	HNF1A-025	2014	638aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8YNU9 B8YNW1 F5H0K0	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000543427.1	HNF1A-201	1493	403aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8YNW1 P20823	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000538626.1	HNF1A-017	582	124aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E0YMK3	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000535955.1	HNF1A-020	434	114aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		U3KQ02	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000540108.1	HNF1A-024	3039	119aa	Nonsense mediated decay		B8YNU9 E2I9R5	-	-
ENST00000560968.1	HNF1A-027	3030	356aa	Nonsense mediated decay		B8YNU9 E0YMI8	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000538646.1	HNF1A-015	1649	278aa	Nonsense mediated decay		B8YNU9 P20823	-	-
ENST00000541924.1	HNF1A-014	1594	247aa	Nonsense mediated decay		B8YNU9 P20823	-	-
ENST00000544574.1	HNF1A-016	725	41aa	Nonsense mediated decay		F5H3Z5	-	-
ENST00000543255.1	HNF1A-026	762	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

HNF1A (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: P20823

CCDS

This gene is a member of the Human CCDS set: CCDS9209.1

LRG

LRG_522 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000135100.13

Other assemblies

This gene maps to 120,978,543-121,002,512 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000151015 (version 6)

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Gene: HNF1A ENSG00000135100

Summary