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
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000257555.6 | HNF1A-001 | 3442 | 631aa | ENSP00000257555.4 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000541395.1 | HNF1A-023 | 3332 | 662aa | ENSP00000443112.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B8YNU9 B8YNW1 F5H5U3 | NM_000545.5 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000402929.1 | HNF1A-003 | 3002 | 520aa | ENSP00000475300.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B8YNU9 B8YNW1 U3KPW5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000400024.2 | HNF1A-002 | 2337 | 542aa | ENSP00000476181.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B8YNU9 B8YNW1 E0YMK2 U3KQS6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000544413.1 | HNF1A-025 | 2014 | 638aa | ENSP00000438804.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B8YNU9 B8YNW1 F5H0K0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000543427.1 | HNF1A-201 | 1493 | 403aa | ENSP00000439721.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B8YNW1 P20823 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000538626.1 | HNF1A-017 | 582 | 124aa | ENSP00000476210.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E0YMK3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000535955.1 | HNF1A-020 | 434 | 114aa | ENSP00000475403.1 | 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 | ENSP00000445445.1 | Nonsense mediated decay | B8YNU9 E2I9R5 | - | - | |
| ENST00000560968.1 | HNF1A-027 | 3030 | 356aa | ENSP00000453965.1 | 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 | ENSP00000443964.1 | Nonsense mediated decay | B8YNU9 P20823 | - | - | |
| ENST00000541924.1 | HNF1A-014 | 1594 | 247aa | ENSP00000440361.1 | Nonsense mediated decay | B8YNU9 P20823 | - | - | |
| ENST00000544574.1 | HNF1A-016 | 725 | 41aa | ENSP00000438565.1 | 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 | - | - | - |
