PLPBP (pyridoxal phosphate binding protein) - Rat Genome Database

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Gene: PLPBP (pyridoxal phosphate binding protein) Homo sapiens
Analyze
Symbol: PLPBP
Name: pyridoxal phosphate binding protein
RGD ID: 1319041
HGNC Page HGNC:9457
Description: Predicted to enable pyridoxal phosphate binding activity. Located in cytosol. Implicated in early-onset vitamin B6-dependent epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EPVB6D; FLJ11861; proline synthase co-transcribed bacterial homolog protein; proline synthetase co-transcribed (bacterial homolog); proline synthetase co-transcribed bacterial homolog protein; proline synthetase co-transcribed homolog; proline synthetase co-transcribed homolog (bacterial); proline synthetase cotranscribed homolog; proline synthetase cotranscribed homolog (bacterial); PROSC
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
GRCh38837,762,546 - 37,779,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl837,762,595 - 37,779,768 (+)EnsemblGRCh38hg38GRCh38
GRCh37837,620,064 - 37,637,286 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36837,738,833 - 37,756,444 (+)NCBINCBI36hg18NCBI36
Build 34837,738,832 - 37,756,443NCBI
Celera836,572,050 - 36,589,221 (+)NCBI
Cytogenetic Map8p11.23NCBI
HuRef836,154,898 - 36,171,954 (+)NCBIHuRef
CHM1_1837,821,558 - 37,838,742 (+)NCBICHM1_1
T2T-CHM13v2.0838,038,942 - 38,056,164 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (NAS)
cytosol  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10496079   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:21664474   PMID:21873635   PMID:22202459   PMID:22863883  
PMID:23376485   PMID:24144296   PMID:24981860   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27499296   PMID:27912044   PMID:28391250   PMID:28514442   PMID:28515276  
PMID:28914444   PMID:30948266   PMID:31048545   PMID:31091453   PMID:31980649   PMID:32203420   PMID:33961781   PMID:34728620  


Genomics

Comparative Map Data
PLPBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38837,762,546 - 37,779,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl837,762,595 - 37,779,768 (+)EnsemblGRCh38hg38GRCh38
GRCh37837,620,064 - 37,637,286 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36837,738,833 - 37,756,444 (+)NCBINCBI36hg18NCBI36
Build 34837,738,832 - 37,756,443NCBI
Celera836,572,050 - 36,589,221 (+)NCBI
Cytogenetic Map8p11.23NCBI
HuRef836,154,898 - 36,171,954 (+)NCBIHuRef
CHM1_1837,821,558 - 37,838,742 (+)NCBICHM1_1
T2T-CHM13v2.0838,038,942 - 38,056,164 (+)NCBI
Plpbp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39827,530,801 - 27,546,160 (+)NCBIGRCm39mm39
GRCm39 Ensembl827,532,583 - 27,546,160 (+)Ensembl
GRCm38827,041,924 - 27,056,132 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl827,042,555 - 27,056,132 (+)EnsemblGRCm38mm10GRCm38
MGSCv37828,153,027 - 28,166,604 (+)NCBIGRCm37mm9NCBIm37
MGSCv36828,508,471 - 28,522,235 (+)NCBImm8
Celera828,531,400 - 28,544,944 (+)NCBICelera
Cytogenetic Map8A2NCBI
Plpbp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21665,003,292 - 65,014,886 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1665,002,223 - 65,014,886 (-)Ensembl
Rnor_6.01669,164,654 - 69,176,245 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1669,163,577 - 69,176,036 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01668,838,027 - 68,849,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41669,330,481 - 69,342,072 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11669,329,617 - 69,342,033 (-)NCBI
Celera1662,922,672 - 62,934,263 (-)NCBICelera
Cytogenetic Map16q12.3NCBI
Plpbp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546313,467,632 - 13,498,640 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546313,467,965 - 13,498,544 (+)NCBIChiLan1.0ChiLan1.0
PLPBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1834,238,372 - 34,258,846 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl834,238,411 - 34,258,846 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0837,060,599 - 37,081,250 (+)NCBIMhudiblu_PPA_v0panPan3
PLPBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11627,599,078 - 27,617,902 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1627,599,310 - 27,617,843 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1628,115,774 - 28,134,641 (-)NCBI
ROS_Cfam_1.01629,498,245 - 29,517,118 (-)NCBI
ROS_Cfam_1.0 Ensembl1629,498,248 - 29,517,119 (-)Ensembl
UMICH_Zoey_3.11627,719,694 - 27,738,561 (-)NCBI
UNSW_CanFamBas_1.01628,297,384 - 28,316,235 (-)NCBI
UU_Cfam_GSD_1.01628,336,475 - 28,355,332 (-)NCBI
Plpbp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494350,223,519 - 50,245,081 (-)NCBI
SpeTri2.0NW_0049367101,216,142 - 1,236,559 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLPBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1548,624,837 - 48,636,589 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11548,624,790 - 48,636,584 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21555,741,253 - 55,753,025 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLPBP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1835,798,067 - 35,817,714 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl835,798,067 - 35,816,054 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660526,187,619 - 6,207,714 (-)NCBIVero_WHO_p1.0
Plpbp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247805,810,342 - 5,838,775 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247805,811,180 - 5,838,411 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH76760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,637,016 - 37,637,262UniSTSGRCh37
Build 36837,756,174 - 37,756,420RGDNCBI36
Celera836,588,951 - 36,589,197RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,171,684 - 36,171,930UniSTS
SHGC-147554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,631,837 - 37,632,133UniSTSGRCh37
Build 36837,750,995 - 37,751,291RGDNCBI36
Celera836,583,772 - 36,584,068RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,166,505 - 36,166,801UniSTS
TNG Radiation Hybrid Map820619.0UniSTS
RH44321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,636,155 - 37,636,377UniSTSGRCh37
Build 36837,755,313 - 37,755,535RGDNCBI36
Celera836,588,090 - 36,588,312RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,170,823 - 36,171,045UniSTS
GeneMap99-GB4 RH Map8152.04UniSTS
WI-15099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,623,056 - 37,623,256UniSTSGRCh37
Build 36837,742,214 - 37,742,414RGDNCBI36
Celera836,575,005 - 36,575,205RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,157,855 - 36,158,055UniSTS
GeneMap99-GB4 RH Map8144.16UniSTS
Whitehead-RH Map8184.6UniSTS
RH68230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37837,637,025 - 37,637,264UniSTSGRCh37
Build 36837,756,183 - 37,756,422RGDNCBI36
Celera836,588,960 - 36,589,199RGD
Cytogenetic Map8p11.2UniSTS
HuRef836,171,693 - 36,171,932UniSTS
GeneMap99-GB4 RH Map8153.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3111
Count of miRNA genes:915
Interacting mature miRNAs:1091
Transcripts:ENST00000328195, ENST00000518036, ENST00000520073, ENST00000521631, ENST00000522808, ENST00000523187, ENST00000523358, ENST00000523521, ENST00000523994
Prediction methods:Microtar, Miranda, Rnahybrid
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
Medium 2435 2604 1697 606 1688 447 4321 2071 3540 410 1426 1610 175 1 1203 2774 3 2
Low 4 387 29 18 263 18 36 126 194 9 34 3 1 14 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA463397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB018566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI355650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW028116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM984988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA086552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328195   ⟹   ENSP00000333551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,762,645 - 37,779,768 (+)Ensembl
RefSeq Acc Id: ENST00000518036   ⟹   ENSP00000428005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,762,610 - 37,772,866 (+)Ensembl
RefSeq Acc Id: ENST00000520073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,762,595 - 37,766,741 (+)Ensembl
RefSeq Acc Id: ENST00000521631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,772,753 - 37,775,473 (+)Ensembl
RefSeq Acc Id: ENST00000522808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,774,936 - 37,778,080 (+)Ensembl
RefSeq Acc Id: ENST00000523187   ⟹   ENSP00000427886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,762,600 - 37,775,451 (+)Ensembl
RefSeq Acc Id: ENST00000523358   ⟹   ENSP00000427778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,762,600 - 37,772,891 (+)Ensembl
RefSeq Acc Id: ENST00000523521   ⟹   ENSP00000429425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,766,280 - 37,775,481 (+)Ensembl
RefSeq Acc Id: ENST00000523994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl837,762,655 - 37,766,716 (+)Ensembl
RefSeq Acc Id: NM_001349346   ⟹   NP_001336275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,762,645 - 37,779,768 (+)NCBI
T2T-CHM13v2.0838,039,041 - 38,056,164 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349347   ⟹   NP_001336276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,762,645 - 37,779,768 (+)NCBI
T2T-CHM13v2.0838,039,041 - 38,056,164 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349348   ⟹   NP_001336277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,762,645 - 37,779,768 (+)NCBI
T2T-CHM13v2.0838,039,041 - 38,056,164 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349349   ⟹   NP_001336278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,762,546 - 37,767,778 (+)NCBI
T2T-CHM13v2.0838,038,942 - 38,044,174 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007198   ⟹   NP_009129
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38837,762,645 - 37,779,768 (+)NCBI
GRCh37837,619,680 - 37,637,286 (+)NCBI
Build 36837,738,833 - 37,756,444 (+)NCBI Archive
Celera836,572,050 - 36,589,221 (+)RGD
HuRef836,154,898 - 36,171,954 (+)ENTREZGENE
CHM1_1837,821,558 - 37,838,742 (+)NCBI
T2T-CHM13v2.0838,039,041 - 38,056,164 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009129   ⟸   NM_007198
- Peptide Label: isoform 2
- UniProtKB: O94903 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336278   ⟸   NM_001349349
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001336275   ⟸   NM_001349346
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001336276   ⟸   NM_001349347
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001336277   ⟸   NM_001349348
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000428005   ⟸   ENST00000518036
RefSeq Acc Id: ENSP00000429425   ⟸   ENST00000523521
RefSeq Acc Id: ENSP00000427778   ⟸   ENST00000523358
RefSeq Acc Id: ENSP00000427886   ⟸   ENST00000523187
RefSeq Acc Id: ENSP00000333551   ⟸   ENST00000328195
Protein Domains
Ala_racemase_N

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O94903-F1-model_v2 AlphaFold O94903 1-275 view protein structure

Promoters
RGD ID:6806959
Promoter ID:HG_KWN:61118
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003XKH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36837,739,001 - 37,739,501 (+)MPROMDB
RGD ID:7213095
Promoter ID:EPDNEW_H12292
Type:initiation region
Name:PROSC_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
GRCh38837,762,645 - 37,762,705EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_007198.3(PROSC):c.772C>T (p.Pro258Ser) single nucleotide variant Malignant melanoma [RCV000068299] Chr8:37778048 [GRCh38]
Chr8:37635566 [GRCh37]
Chr8:37754724 [NCBI36]
Chr8:8p11.23		 not provided
NM_007198.3(PROSC):c.773C>T (p.Pro258Leu) single nucleotide variant Malignant melanoma [RCV000068300] Chr8:37778049 [GRCh38]
Chr8:37635567 [GRCh37]
Chr8:37754725 [NCBI36]
Chr8:8p11.23		 not provided
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 copy number loss See cases [RCV000136878] Chr8:29362097..40231708 [GRCh38]
Chr8:29219614..40089227 [GRCh37]
Chr8:29275533..40208384 [NCBI36]
Chr8:8p12-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
NM_007198.4(PLPBP):c.70G>A (p.Val24Met) single nucleotide variant not provided [RCV000513843] Chr8:37762729 [GRCh38]
Chr8:37620247 [GRCh37]
Chr8:8p11.23		 benign|likely benign
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p11.23-11.22(chr8:37555526-38600788)x3 copy number gain See cases [RCV000240444] Chr8:37555526..38600788 [GRCh37]
Chr8:8p11.23-11.22		 uncertain significance
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs) deletion not provided [RCV000599011] Chr8:37772803..37772806 [GRCh38]
Chr8:37630321..37630324 [GRCh37]
Chr8:8p11.23		 pathogenic
NM_007198.4(PLPBP):c.207+1G>A single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV000415527] Chr8:37765634 [GRCh38]
Chr8:37623152 [GRCh37]
Chr8:8p11.23		 pathogenic
NM_007198.4(PLPBP):c.233C>G (p.Ser78Ter) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV000415554]|not provided [RCV000627267] Chr8:37765736 [GRCh38]
Chr8:37623254 [GRCh37]
Chr8:8p11.23		 pathogenic
NM_007198.4(PLPBP):c.320-2A>G single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV000415559] Chr8:37772753 [GRCh38]
Chr8:37630271 [GRCh37]
Chr8:8p11.23		 pathogenic
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV000415533] Chr8:37777998 [GRCh38]
Chr8:37635516 [GRCh37]
Chr8:8p11.23		 pathogenic
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV000415592] Chr8:37766296 [GRCh38]
Chr8:37623814 [GRCh37]
Chr8:8p11.23		 pathogenic|likely pathogenic
NM_007198.4(PLPBP):c.524T>C (p.Leu175Pro) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV000415599] Chr8:37775408 [GRCh38]
Chr8:37632926 [GRCh37]
Chr8:8p11.23		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)x1 copy number loss See cases [RCV000447568] Chr8:37566388..38802788 [GRCh37]
Chr8:8p11.23-11.22		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p11.23(chr8:37618754-38194831)x3 copy number gain not provided [RCV000658484] Chr8:37618754..38194831 [GRCh37]
Chr8:8p11.23		 uncertain significance
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3 copy number gain not provided [RCV000683035] Chr8:31352498..41481295 [GRCh37]
Chr8:8p12-11.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p12-11.23(chr8:36486830-37992515)x1 copy number loss See cases [RCV000790586] Chr8:36486830..37992515 [GRCh37]
Chr8:8p12-11.23		 uncertain significance
NM_007198.4(PLPBP):c.46G>T (p.Ala16Ser) single nucleotide variant not provided [RCV000904311] Chr8:37762705 [GRCh38]
Chr8:37620223 [GRCh37]
Chr8:8p11.23		 likely benign
NM_007198.4(PLPBP):c.773del (p.Pro258fs) deletion Epilepsy, early-onset, vitamin B6-dependent [RCV001007890] Chr8:37778046 [GRCh38]
Chr8:37635564 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_007198.4(PLPBP):c.49T>C (p.Leu17=) single nucleotide variant not provided [RCV000920422] Chr8:37762708 [GRCh38]
Chr8:37620226 [GRCh37]
Chr8:8p11.23		 likely benign
NM_007198.4(PLPBP):c.624G>A (p.Leu208=) single nucleotide variant not provided [RCV000983140] Chr8:37775944 [GRCh38]
Chr8:37633462 [GRCh37]
Chr8:8p11.23		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV000988047] Chr8:37775933 [GRCh38]
Chr8:37633451 [GRCh37]
Chr8:8p11.23		 uncertain significance
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1		 uncertain significance
NM_007198.4(PLPBP):c.704T>G (p.Val235Gly) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV000988048] Chr8:37777980 [GRCh38]
Chr8:37635498 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_001349349.1(PLPBP):c.4A>G (p.Met2Val) single nucleotide variant not provided [RCV001684775] Chr8:37762558 [GRCh38]
Chr8:37620076 [GRCh37]
Chr8:8p11.23		 benign
NM_007198.4(PLPBP):c.*27A>G single nucleotide variant not provided [RCV001696424] Chr8:37778131 [GRCh38]
Chr8:37635649 [GRCh37]
Chr8:8p11.23		 benign
NM_007198.4(PLPBP):c.598-64T>A single nucleotide variant not provided [RCV001639963] Chr8:37775854 [GRCh38]
Chr8:37633372 [GRCh37]
Chr8:8p11.23		 benign
NM_007198.4(PLPBP):c.132G>A (p.Ala44=) single nucleotide variant not provided [RCV000886710] Chr8:37765558 [GRCh38]
Chr8:37623076 [GRCh37]
Chr8:8p11.23		 likely benign
NM_007198.4(PLPBP):c.288C>T (p.His96=) single nucleotide variant not provided [RCV000897095] Chr8:37766324 [GRCh38]
Chr8:37623842 [GRCh37]
Chr8:8p11.23		 benign
NM_007198.4(PLPBP):c.157A>G (p.Met53Val) single nucleotide variant not provided [RCV000955390] Chr8:37765583 [GRCh38]
Chr8:37623101 [GRCh37]
Chr8:8p11.23		 benign
NM_007198.4(PLPBP):c.86C>T (p.Ala29Val) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV001591710] Chr8:37762745 [GRCh38]
Chr8:37620263 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_007198.4(PLPBP):c.696G>A (p.Ala232=) single nucleotide variant not provided [RCV001091596] Chr8:37776016 [GRCh38]
Chr8:37633534 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_007198.4(PLPBP):c.40G>C (p.Gly14Arg) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV001334650] Chr8:37762699 [GRCh38]
Chr8:37620217 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV001328599] Chr8:37765563 [GRCh38]
Chr8:37623081 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_007198.4(PLPBP):c.347C>T (p.Thr116Ile) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV001328600] Chr8:37772782 [GRCh38]
Chr8:37630300 [GRCh37]
Chr8:8p11.23		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_007198.4(PLPBP):c.823C>G (p.His275Asp) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV001328601] Chr8:37778099 [GRCh38]
Chr8:37635617 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_007198.4(PLPBP):c.52C>T (p.Arg18Trp) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV001334651] Chr8:37762711 [GRCh38]
Chr8:37620229 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_007198.4(PLPBP):c.597+111T>C single nucleotide variant not provided [RCV001652404] Chr8:37775592 [GRCh38]
Chr8:37633110 [GRCh37]
Chr8:8p11.23		 benign
NC_000008.10:g.(?_37595441)_(38314964_?)dup duplication not provided [RCV002238517] Chr8:37595441..38314964 [GRCh37]
Chr8:8p11.23-11.22		 uncertain significance
NM_007198.4(PLPBP):c.211C>T (p.Gln71Ter) single nucleotide variant Epilepsy, early-onset, vitamin B6-dependent [RCV001784882] Chr8:37765714 [GRCh38]
Chr8:37623232 [GRCh37]
Chr8:8p11.23		 pathogenic
NM_007198.4(PLPBP):c.187C>T (p.Arg63Cys) single nucleotide variant not provided [RCV001769192] Chr8:37765613 [GRCh38]
Chr8:37623131 [GRCh37]
Chr8:8p11.23		 uncertain significance
NM_007198.4(PLPBP):c.530T>C (p.Phe177Ser) single nucleotide variant not provided [RCV001758070] Chr8:37775414 [GRCh38]
Chr8:37632932 [GRCh37]
Chr8:8p11.23		 uncertain significance
GRCh37/hg19 8p11.23(chr8:37544476-37818465)x3 copy number gain not provided [RCV001829089] Chr8:37544476..37818465 [GRCh37]
Chr8:8p11.23		 uncertain significance
GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788) copy number loss not specified [RCV002053757] Chr8:37566388..38802788 [GRCh37]
Chr8:8p11.23-11.22		 likely pathogenic
NC_000008.10:g.(?_37595441)_(38961219_?)del deletion Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001970153]|not provided [RCV001950890] Chr8:37595441..38961219 [GRCh37]
Chr8:8p11.23-11.22		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9457 AgrOrtholog
COSMIC PLPBP COSMIC
Ensembl Genes ENSG00000147471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000333551 ENTREZGENE
  ENSP00000333551.3 UniProtKB/Swiss-Prot
  ENSP00000427778.1 UniProtKB/TrEMBL
  ENSP00000427886.1 UniProtKB/TrEMBL
  ENSP00000428005.1 UniProtKB/TrEMBL
  ENSP00000429425.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000328195 ENTREZGENE
  ENST00000328195.8 UniProtKB/Swiss-Prot
  ENST00000518036.5 UniProtKB/TrEMBL
  ENST00000523187.5 UniProtKB/TrEMBL
  ENST00000523358.5 UniProtKB/TrEMBL
  ENST00000523521.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147471 GTEx
HGNC ID HGNC:9457 ENTREZGENE
Human Proteome Map PLPBP Human Proteome Map
InterPro Ala_racemase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLP-binding_barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP_homeostasis UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11212 UniProtKB/Swiss-Prot
NCBI Gene 11212 ENTREZGENE
OMIM 604436 OMIM
  617290 OMIM
PANTHER PTHR10146 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ala_racemase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33810 PharmGKB
PIRSF YBL036c_PLPDEIII UniProtKB/Swiss-Prot
PROSITE UPF0001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51419 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs TIGR00044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RFX7_HUMAN UniProtKB/TrEMBL
  E5RFZ4_HUMAN UniProtKB/TrEMBL
  E5RG77_HUMAN UniProtKB/TrEMBL
  H0YBG2_HUMAN UniProtKB/TrEMBL
  O94903 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6FI94 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 PLPBP  pyridoxal phosphate binding protein  PROSC  proline synthetase cotranscribed homolog (bacterial)  Symbol and/or name change 5135510 APPROVED
2016-05-31 PROSC  proline synthetase cotranscribed homolog (bacterial)    proline synthetase co-transcribed homolog (bacterial)  Symbol and/or name change 5135510 APPROVED