PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1) - Rat Genome Database
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Gene: PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1) Homo sapiens
Analyze
Symbol: PCBD1
Name: pterin-4 alpha-carbinolamine dehydratase 1
RGD ID: 1604063
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in L-phenylalanine metabolic process. Localizes to cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 4-alpha-hydroxy-tetrahydropterin dehydratase; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); DCOH; dimerization cofactor of HNF1; dimerizing cofactor for HNF1; PCBD; PCD; phenylalanine hydroxylase-stimulating protein; PHS; pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha; pterin-4-alpha-carbinolamine dehydratase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1070,882,280 - 70,888,565 (-)EnsemblGRCh38hg38GRCh38
GRCh381070,882,280 - 70,888,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371072,642,037 - 72,648,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361072,313,273 - 72,318,547 (-)NCBINCBI36hg18NCBI36
Celera1065,925,552 - 65,930,826 (-)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1066,637,269 - 66,642,544 (-)NCBIHuRef
CHM1_11072,924,821 - 72,931,328 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA,TAS)
extracellular exosome  (HDA)
nucleoplasm  (IDA)
nucleus  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1763325   PMID:7763270   PMID:8188266   PMID:8352282   PMID:8444860   PMID:8486378   PMID:8504250   PMID:8618906   PMID:8682201   PMID:8889548   PMID:9092652   PMID:9391049  
PMID:9585615   PMID:9760199   PMID:10098606   PMID:10727395   PMID:11461190   PMID:11668623   PMID:11937441   PMID:11980910   PMID:12477932   PMID:12565907   PMID:15489334   PMID:15740590  
PMID:16189514   PMID:16385451   PMID:16423549   PMID:17353931   PMID:18029348   PMID:19056867   PMID:19491146   PMID:19674121   PMID:20195357   PMID:20211142   PMID:20532202   PMID:21047120  
PMID:21145461   PMID:21516116   PMID:21873635   PMID:21988832   PMID:22623531   PMID:23251661   PMID:23376485   PMID:23533145   PMID:24204001   PMID:24848070   PMID:25416956   PMID:26344197  
PMID:26871637   PMID:27107014   PMID:27609421   PMID:27684187   PMID:29791485   PMID:29892012   PMID:31515488   PMID:31741433   PMID:32203420   PMID:32296183  


Genomics

Comparative Map Data
PCBD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1070,882,280 - 70,888,565 (-)EnsemblGRCh38hg38GRCh38
GRCh381070,882,280 - 70,888,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371072,642,037 - 72,648,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361072,313,273 - 72,318,547 (-)NCBINCBI36hg18NCBI36
Celera1065,925,552 - 65,930,826 (-)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1066,637,269 - 66,642,544 (-)NCBIHuRef
CHM1_11072,924,821 - 72,931,328 (-)NCBICHM1_1
Pcbd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391060,925,110 - 60,930,108 (+)NCBIGRCm39mm39
GRCm381061,089,331 - 61,094,329 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1061,089,331 - 61,094,324 (+)EnsemblGRCm38mm10GRCm38
MGSCv371060,552,091 - 60,557,077 (+)NCBIGRCm37mm9NCBIm37
MGSCv361060,484,716 - 60,489,676 (+)NCBImm8
Celera1062,189,905 - 62,194,954 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.14NCBI
Pcbd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02030,689,690 - 30,696,465 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2030,690,810 - 30,696,476 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02032,484,965 - 32,491,740 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42028,448,703 - 28,454,184 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12028,462,435 - 28,467,964 (+)NCBI
Celera2030,472,263 - 30,477,776 (+)NCBICelera
Cytogenetic Map20q11NCBI
Pcbd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543720,482,589 - 20,488,249 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543720,482,589 - 20,487,337 (+)NCBIChiLan1.0ChiLan1.0
PCBD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11069,877,545 - 69,884,030 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1069,878,773 - 69,881,174 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01067,353,903 - 67,359,073 (-)NCBIMhudiblu_PPA_v0panPan3
PCBD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl421,719,863 - 21,721,574 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1421,719,863 - 21,723,493 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Pcbd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365217,843,945 - 7,847,827 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCBD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1473,772,835 - 73,807,281 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11473,769,339 - 73,807,278 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21479,648,886 - 79,655,375 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PCBD1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1960,417,301 - 60,422,313 (+)NCBI
Pcbd1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247544,893,868 - 4,898,410 (-)NCBI

Position Markers
G62038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,643,612 - 72,643,771UniSTSGRCh37
Build 361072,313,618 - 72,313,777RGDNCBI36
Celera1065,925,897 - 65,926,056RGD
Cytogenetic Map10q22UniSTS
HuRef1066,637,614 - 66,637,773UniSTS
STS-L41559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,643,433 - 72,643,641UniSTSGRCh37
GRCh371072,643,530 - 72,643,713UniSTSGRCh37
Build 361072,313,439 - 72,313,647RGDNCBI36
Celera1065,925,718 - 65,925,926RGD
Celera1065,925,815 - 65,925,998UniSTS
Cytogenetic Map10q22UniSTS
HuRef1066,637,532 - 66,637,715UniSTS
HuRef1066,637,435 - 66,637,643UniSTS
GeneMap99-GB4 RH Map10370.05UniSTS
NCBI RH Map10856.7UniSTS
PCBD_8522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,643,100 - 72,643,736UniSTSGRCh37
Build 361072,313,106 - 72,313,742RGDNCBI36
Celera1065,925,385 - 65,926,021RGD
HuRef1066,637,102 - 66,637,738UniSTS
RH78920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,643,561 - 72,643,693UniSTSGRCh37
Build 361072,313,567 - 72,313,699RGDNCBI36
Celera1065,925,846 - 65,925,978RGD
Cytogenetic Map10q22UniSTS
HuRef1066,637,563 - 66,637,695UniSTS
GeneMap99-GB4 RH Map10370.57UniSTS
STS-L41559  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22UniSTS
GeneMap99-GB4 RH Map10370.77UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:744
Count of miRNA genes:508
Interacting mature miRNAs:571
Transcripts:ENST00000299299, ENST00000493228, ENST00000493961
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 6
Medium 2432 2277 1719 622 1230 464 4336 2137 3660 415 1433 1604 171 1204 2779 2
Low 2 708 4 1 706 1 19 56 50 2 11 3 1 1 9 2 1
Below cutoff 1 3 3 1 9 1 2 14 7 4 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA397961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA736613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF082858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI548743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM724638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ685076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ897536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY292808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L15410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L15427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L15428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L41559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L41560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299299   ⟹   ENSP00000299299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1070,883,510 - 70,888,565 (-)Ensembl
RefSeq Acc Id: ENST00000493228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1070,883,932 - 70,888,254 (-)Ensembl
RefSeq Acc Id: ENST00000493961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1070,882,280 - 70,885,899 (-)Ensembl
RefSeq Acc Id: NM_000281   ⟹   NP_000272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,883,510 - 70,888,565 (-)NCBI
GRCh371072,642,037 - 72,648,541 (-)NCBI
Build 361072,313,273 - 72,318,547 (-)NCBI Archive
HuRef1066,637,269 - 66,642,544 (-)ENTREZGENE
CHM1_11072,926,050 - 72,931,328 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289797   ⟹   NP_001276726
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,883,510 - 70,887,881 (-)NCBI
CHM1_11072,926,050 - 72,930,796 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323004   ⟹   NP_001309933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,882,280 - 70,888,565 (-)NCBI
CHM1_11072,924,821 - 72,931,328 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000272   ⟸   NM_000281
- Peptide Label: isoform 1
- UniProtKB: P61457 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276726   ⟸   NM_001289797
- Peptide Label: isoform 3
- UniProtKB: P61457 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309933   ⟸   NM_001323004
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000299299   ⟸   ENST00000299299

Promoters
RGD ID:7217779
Promoter ID:EPDNEW_H14635
Type:initiation region
Name:PCBD1_1
Description:pterin-4 alpha-carbinolamine dehydratase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,888,565 - 70,888,625EPDNEW
RGD ID:6787956
Promoter ID:HG_KWN:9941
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000281,   OTTHUMT00000048528
Position:
Human AssemblyChrPosition (strand)Source
Build 361072,317,831 - 72,318,477 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000018286] Chr10:70884006 [GRCh38]
Chr10:72643763 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000018287] Chr10:70884021 [GRCh38]
Chr10:72643778 [GRCh37]
Chr10:10q22.1
pathogenic
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000018288] Chr10:70884029 [GRCh38]
Chr10:72643786 [GRCh37]
Chr10:10q22.1
pathogenic
PCBD1, GLU86TER single nucleotide variant Hyperphenylalaninemia, bh4-deficient, d [RCV000018289] Chr10:10q22 pathogenic
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000018290] Chr10:70883973 [GRCh38]
Chr10:72643730 [GRCh37]
Chr10:10q22.1
pathogenic
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2
pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2
pathogenic
NM_000281.4(PCBD1):c.46del (p.Leu16fs) deletion not provided [RCV000143790] Chr10:70885887 [GRCh38]
Chr10:72645644 [GRCh37]
Chr10:10q22.1
not provided
NM_000281.4(PCBD1):c.210_212CAA[1] (p.Asn71del) microsatellite Hyperphenylalaninemia, BH4-deficient, D [RCV000143791] Chr10:70885153..70885155 [GRCh38]
Chr10:72644910..72644912 [GRCh37]
Chr10:10q22.1
not provided
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000143792] Chr10:70883976 [GRCh38]
Chr10:72643733 [GRCh37]
Chr10:10q22.1
not provided
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2
pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3 copy number gain See cases [RCV000141888] Chr10:70596378..71288228 [GRCh38]
Chr10:72356134..73047985 [GRCh37]
Chr10:72026140..72717991 [NCBI36]
Chr10:10q22.1
uncertain significance
NM_000281.3(PCBD1):c.-96G>A single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000268411] Chr10:70888629 [GRCh38]
Chr10:72648386 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.3(PCBD1):c.-46G>A single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000303627] Chr10:70888579 [GRCh38]
Chr10:72648336 [GRCh37]
Chr10:10q22.1
likely benign
NM_000281.4(PCBD1):c.*116C>T single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000397554] Chr10:70883834 [GRCh38]
Chr10:72643591 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.4(PCBD1):c.*253T>A single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000349574] Chr10:70883697 [GRCh38]
Chr10:72643454 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_000281.4(PCBD1):c.*36G>A single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000350605] Chr10:70883914 [GRCh38]
Chr10:72643671 [GRCh37]
Chr10:10q22.1
benign
NM_000281.4(PCBD1):c.-27C>G single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000401681] Chr10:70888560 [GRCh38]
Chr10:72648317 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.3(PCBD1):c.-53C>A single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000358393] Chr10:70888586 [GRCh38]
Chr10:72648343 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.4(PCBD1):c.*114G>A single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000295713] Chr10:70883836 [GRCh38]
Chr10:72643593 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_000281.4(PCBD1):c.205G>A (p.Val69Met) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000415619] Chr10:70885163 [GRCh38]
Chr10:72644920 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.3(PCBD1):c.-132C>A single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000364283] Chr10:70888665 [GRCh38]
Chr10:72648422 [GRCh37]
Chr10:10q22.1
benign
NM_000281.4(PCBD1):c.*29G>A single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000390410] Chr10:70883921 [GRCh38]
Chr10:72643678 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.3(PCBD1):c.-108T>C single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000323558] Chr10:70888641 [GRCh38]
Chr10:72648398 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.4(PCBD1):c.-15G>C single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000356546] Chr10:70888548 [GRCh38]
Chr10:72648305 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.4(PCBD1):c.*402_*403GT[1] microsatellite BH4-Deficient Hyperphenylalaninemia [RCV000290199] Chr10:70883545..70883546 [GRCh38]
Chr10:72643302..72643303 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000641175] Chr10:70885189 [GRCh38]
Chr10:72644946 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000492299] Chr10:70883952 [GRCh38]
Chr10:72643709 [GRCh37]
Chr10:10q22.1
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_000281.4(PCBD1):c.263G>A (p.Arg88Gln) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000880965] Chr10:70884002 [GRCh38]
Chr10:72643759 [GRCh37]
Chr10:10q22.1
likely benign
NM_000281.4(PCBD1):c.249C>T (p.Ala83=) single nucleotide variant not provided [RCV000929015] Chr10:70884016 [GRCh38]
Chr10:72643773 [GRCh37]
Chr10:10q22.1
likely benign
NM_000281.4(PCBD1):c.204C>T (p.Asn68=) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV000895796] Chr10:70885164 [GRCh38]
Chr10:72644921 [GRCh37]
Chr10:10q22.1
likely benign
NM_000281.4(PCBD1):c.272del (p.Asn91fs) deletion Hyperphenylalaninemia, BH4-deficient, D [RCV000988378] Chr10:70883993 [GRCh38]
Chr10:72643750 [GRCh37]
Chr10:10q22.1
pathogenic
NM_000281.4(PCBD1):c.281G>T (p.Ser94Ile) single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV001219880] Chr10:70883984 [GRCh38]
Chr10:72643741 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000281.4(PCBD1):c.*107C>T single nucleotide variant Hyperphenylalaninemia, BH4-deficient, D [RCV001107893] Chr10:70883843 [GRCh38]
Chr10:72643600 [GRCh37]
Chr10:10q22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8646 AgrOrtholog
COSMIC PCBD1 COSMIC
Ensembl Genes ENSG00000166228 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000299299 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000299299 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000493961 ENTREZGENE
Gene3D-CATH 3.30.1360.20 UniProtKB/Swiss-Prot
GTEx ENSG00000166228 GTEx
HGNC ID HGNC:8646 ENTREZGENE
Human Proteome Map PCBD1 Human Proteome Map
InterPro PCD_sf UniProtKB/Swiss-Prot
  Pterin_deHydtase UniProtKB/Swiss-Prot
KEGG Report hsa:5092 UniProtKB/Swiss-Prot
NCBI Gene 5092 ENTREZGENE
OMIM 126090 OMIM
  264070 OMIM
PANTHER PTHR12599 UniProtKB/Swiss-Prot
Pfam Pterin_4a UniProtKB/Swiss-Prot
PharmGKB PA32985 PharmGKB
Superfamily-SCOP SSF55248 UniProtKB/Swiss-Prot
UniGene Hs.3192 ENTREZGENE
UniProt P61457 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary P70519 UniProtKB/Swiss-Prot
  P80095 UniProtKB/Swiss-Prot
  Q9D930 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 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
2011-08-16 PCBD1  pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha  PCBD1  pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha  Symbol and/or name change 5135510 APPROVED