Gene: GCH1 ENSG00000131979

Description

GTP cyclohydrolase 1 [Source:HGNC Symbol;Acc:4193]

Gene Synonyms

DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B

Location

Chromosome 14: 55,308,726-55,369,570 reverse strand.

GRCh37:CM000676.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 8 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000491895.2	GCH1-002	2943	250aa	ENSP00000419045.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9720	P30793 Q8IZH9 Q96T74	NM_000161.2	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,
ENST00000395514.1	GCH1-201	1977	250aa	ENSP00000378890.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9720	P30793 Q8IZH9 Q96T74	NM_001024024.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000543643.2	GCH1-003	1897	233aa	ENSP00000444011.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS41954	P30793	NM_001024070.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000536224.2	GCH1-004	1805	213aa	ENSP00000445246.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45110	P30793	NM_001024071.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000254299.4	GCH1-001	2901	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000395521.6	GCH1-005	351	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

EMBL-EBI User Survey 2024

Gene: GCH1 ENSG00000131979

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EMBL-EBI User Survey 2024

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Gene: GCH1 ENSG00000131979

Summary