Pcbd1 (pterin-4 alpha-carbinolamine dehydratase 1)

Gene: Pcbd1 (pterin-4 alpha-carbinolamine dehydratase 1) Chinchilla lanigera

Analyze

Symbol:

Pcbd1

Name:

pterin-4 alpha-carbinolamine dehydratase 1

RGD ID:

8848104

Description:

ENCODES a protein that exhibits 4-alpha-hydroxytetrahydrobiopterin dehydratase activity (ortholog); identical protein binding (ortholog); phenylalanine 4-monooxygenase activity (ortholog); INVOLVED IN L-phenylalanine metabolic process (ortholog); positive regulation of DNA-templated transcription (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); BH4-deficient hyperphenylalaninemia D (ortholog); genetic disease (ortholog); FOUND IN cytosol (ortholog); nucleoplasm (ortholog); nucleus (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha; pterin-4-alpha-carbinolamine dehydratase

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955437	20,482,589 - 20,488,249 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	20,482,589 - 20,487,337 (+)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Animal Disease Models (ISO)

BH4-deficient hyperphenylalaninemia D (ISO)

genetic disease (ISO)

lung adenocarcinoma (ISO)

phenylketonuria (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

L-phenylalanine metabolic process (ISO)

positive regulation of DNA-templated transcription (ISO)

Cellular Component

cytosol (ISO)

nucleoplasm (ISO)

nucleus (ISO)

Molecular Function

4-alpha-hydroxytetrahydrobiopterin dehydratase activity (ISO)

identical protein binding (ISO)

phenylalanine 4-monooxygenase activity (ISO)

protein binding (ISO)

transcription coactivator activity (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

Pcbd1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955437	20,482,589 - 20,488,249 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	20,482,589 - 20,487,337 (+)	NCBI	ChiLan1.0	ChiLan1.0

PCBD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	70,882,280 - 70,888,565 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	70,882,280 - 70,888,565 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	72,642,037 - 72,648,322 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	72,313,273 - 72,318,547 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	10	65,925,552 - 65,930,826 (-)	NCBI		Celera
Cytogenetic Map	10	q22.1	NCBI
HuRef	10	66,637,269 - 66,642,544 (-)	NCBI		HuRef
CHM1_1	10	72,926,052 - 72,931,326 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	71,752,084 - 71,758,371 (-)	NCBI		T2T-CHM13v2.0

Pcbd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	60,925,110 - 60,930,108 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	60,925,110 - 60,930,103 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	61,089,331 - 61,094,329 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	61,089,331 - 61,094,324 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	60,552,091 - 60,557,077 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	60,484,716 - 60,489,676 (+)	NCBI		MGSCv36	mm8
Celera	10	62,189,905 - 62,194,954 (+)	NCBI		Celera
Cytogenetic Map	10	B4	NCBI
cM Map	10	32.14	NCBI

Pcbd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	29,573,362 - 29,587,181 (+)	NCBI		GRCr8
mRatBN7.2	20	29,037,545 - 29,044,322 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	28,953,864 - 29,044,292 (+)	Ensembl		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	20	28,953,864 - 29,044,321 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	30,054,834 - 30,060,353 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	29,441,137 - 29,446,654 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	30,183,596 - 30,189,109 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	30,689,690 - 30,696,465 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	30,690,810 - 30,696,476 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	32,484,965 - 32,491,740 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	28,448,703 - 28,454,184 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	28,462,435 - 28,467,964 (+)	NCBI
Celera	20	30,472,263 - 30,477,776 (+)	NCBI		Celera
Cytogenetic Map	20	q11	NCBI

PCBD1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	8	83,033,986 - 83,039,162 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	83,039,307 - 83,044,479 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	67,353,903 - 67,359,073 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	69,877,545 - 69,884,030 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	69,878,773 - 69,881,174 (-)	Ensembl	panpan1.1		panPan2

PCBD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	21,719,863 - 21,723,493 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	21,719,863 - 21,721,574 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	21,854,056 - 21,858,488 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	21,997,912 - 22,002,345 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	21,997,904 - 22,002,274 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	21,893,535 - 21,897,967 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	22,098,728 - 22,103,182 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	22,451,020 - 22,455,453 (-)	NCBI		UU_Cfam_GSD_1.0

Pcbd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	59,351,220 - 59,355,096 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936521	7,845,870 - 7,848,426 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936521	7,843,945 - 7,847,827 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PCBD1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	73,800,765 - 73,807,281 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	73,769,339 - 73,807,278 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	79,648,886 - 79,655,375 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PCBD1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	9	60,417,301 - 60,422,313 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666048	21,141,594 - 21,146,607 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pcbd1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624754	4,893,868 - 4,898,363 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	4,893,868 - 4,898,410 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005390042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01034874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBCE01054967	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000017877 ⟹ ENSCLAP00000017702

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955437	20,482,589 - 20,488,249 (+)	Ensembl

RefSeq Acc Id:

XM_005390042 ⟹ XP_005390099

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955437	20,482,589 - 20,487,337 (+)	NCBI

Sequence:

show sequence

CCTGAGAGAAGAACCCAGGGAGGGAAAGATTACGAAGCGACAAGGAGGCTTTTAGGGTTGATGG
ATATGTTCATAATCTTGGCCGTGGTGAATGGTTTCACGGGGAAAACATGTCAAATTGCACGCTT
TAAATATGTGTAATTTACTCTGTGTCAGTTATATCTGATGTTTTTAAAAAGAAAAGGTCCTCTG
GTCCGGCGCCCAGAGTCCCCCAGCTGGGAAGCTGCCAGGCGCAAGTGTGGAGCAGCAGTCGGCA
AGCTCAGGCCCGGCTCCCGCAGGAGGGCGGCTCCAGGTGGCGAAGAAAGTGCCGGAAGGCGCGG
GGCCCAGCGCGGGCCGCAGTTAATCATTAGCCGGGGGAGGCCCGAGCTCGGCCCCGCCCCGAAG
CGCCCCCTGCGCTCTGCCGAGCTCGCCCTGCGCCGCCACCTGCTGCCCGCGCGCAGACATGGCT
GGCAAAGCCCACAGGCTGAGTGCTGAGGAGAGGGACCAGCTGCTGCCCAACCTGAGGGCTGTGG
GGTGGAACGAGCTGGAAGGCCGCGATGCCATCTTCAAGCAGTTCCACTTCAAAGATTTCAACAG
GGCTTTTGGCTTCATGACCAGAGTGGCCCTGCAGGCTGAGAAGCTGGACCACCATCCTGAATGG
TTTAATGTATACAACAAGGTGCACATCACCCTGAGCACCCATGAATGTGCGGGCCTTTCAGAAC
GGGACATAAACCTGGCCAGCTTCATCGAACAAGTAGCAGTGACCATGACATAGACCCCGCCCTT
CTTTGCATTCCCAGGGGGAGGGGTGGCTGAACTGGACACAGGGAGGGAACTGAGAGCCCCCCCA
CACACACACTCGCTGCAGTTAGAACTGCCACACTGACCCTGCTGCCTCCATTTAGGGGTGAGTT
TCCACTGCACAAAGATGCCAGCGTCACTGCCAACACCAGGAACAGCCCTTTTCCCCAAGCTACT
CTCCTCACCTGTGGAGCTTTGTCATTTTCACTACTCTGAATAAGTTCTCCCTTCTTTGCAACTT
CCTGGCAACCCTAATGGTGTTCTTTGTAATGGTGTTCTTTTCAGGCTGGGTCTCACCCCCTTTC
CAATTCATTTACCAAGCCGCTGTAAAGGGTGAAATAAAACCCTGTCGTAGAATCCAGGACCCTA
AAGCAAATCCCATGTCTCAAACATATGCTTTGATGTTGCCAATAAAACTCATTATATCACTGGT
CTCAAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005390099	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000017702
	ENSCLAP00000017702.1

RefSeq Acc Id:	XP_005390099 ⟸ XM_005390042
- UniProtKB:	A0A8C2VM70 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHP EWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVTMT hide sequence

RefSeq Acc Id:

ENSCLAP00000017702 ⟸ ENSCLAT00000017877

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000012139	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000017877	ENTREZGENE
	ENSCLAT00000017877.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.1360.20	UniProtKB/TrEMBL
InterPro	PCD_sf	UniProtKB/TrEMBL
	Pterin_deHydtase	UniProtKB/TrEMBL
NCBI Gene	Pcbd1	ENTREZGENE
PANTHER	PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE	UniProtKB/TrEMBL
	PTHR12599	UniProtKB/TrEMBL
Pfam	Pterin_4a	UniProtKB/TrEMBL
Superfamily-SCOP	SSF55248	UniProtKB/TrEMBL
UniProt	A0A8C2VM70	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-08-03	Pcbd1	pterin-4 alpha-carbinolamine dehydratase 1		pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM