Human Gene PLPBP (ENST00000328195.8_4) from GENCODE V47lift37
  Description: pyridoxal phosphate binding protein, transcript variant 2 (from RefSeq NM_007198.4)
Gencode Transcript: ENST00000328195.8_4
Gencode Gene: ENSG00000147471.12_12
Transcript (Including UTRs)
   Position: hg19 chr8:37,620,163-37,637,286 Size: 17,124 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr8:37,620,178-37,635,622 Size: 15,445 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:37,620,163-37,637,286)mRNA (may differ from genome)Protein (275 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PROSC_HUMAN
DESCRIPTION: RecName: Full=Proline synthase co-transcribed bacterial homolog protein;
COFACTOR: Pyridoxal phosphate (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the UPF0001 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PLPBP
Diseases sorted by gene-association score: epilepsy, early-onset, vitamin b6-dependent* (1331), epilepsy, pyridoxine-dependent* (202)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.06 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 769.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -443.701664-0.267 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001608 - Ala_racemase_N
IPR011078 - UPF0001

Pfam Domains:
PF01168 - Alanine racemase, N-terminal domain

SCOP Domains:
51419 - PLP-binding barrel

ModBase Predicted Comparative 3D Structure on O94903
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030170 pyridoxal phosphate binding

Biological Process:
GO:0008150 biological_process

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  KJ898377 - Synthetic construct Homo sapiens clone ccsbBroadEn_07771 PROSC gene, encodes complete protein.
LF208068 - JP 2014500723-A/15571: Polycomb-Associated Non-Coding RNAs.
LF208069 - JP 2014500723-A/15572: Polycomb-Associated Non-Coding RNAs.
BC012334 - Homo sapiens proline synthetase co-transcribed homolog (bacterial), mRNA (cDNA clone MGC:2667 IMAGE:3546307), complete cds.
AK021923 - Homo sapiens cDNA FLJ11861 fis, clone HEMBA1006885, highly similar to Proline synthetase co-transcribed bacterial homolog protein.
AL136616 - Homo sapiens mRNA; cDNA DKFZp564I2423 (from clone DKFZp564I2423).
AK291135 - Homo sapiens cDNA FLJ78340 complete cds, highly similar to Homo sapiens proline synthetase co-transcribed homolog (PROSC), mRNA.
EU831720 - Synthetic construct Homo sapiens clone HAIB:100066749; DKFZo003E1020 proline synthetase co-transcribed homolog (bacterial) protein (PROSC) gene, encodes complete protein.
EU831636 - Synthetic construct Homo sapiens clone HAIB:100066665; DKFZo007E1019 proline synthetase co-transcribed homolog (bacterial) protein (PROSC) gene, encodes complete protein.
CR533532 - Homo sapiens full open reading frame cDNA clone RZPDo834F0319D for gene PROSC, proline synthetase co-transcribed homolog (bacterial); complete cds, incl. stopcodon.
LF371856 - JP 2014500723-A/179359: Polycomb-Associated Non-Coding RNAs.
LF371860 - JP 2014500723-A/179363: Polycomb-Associated Non-Coding RNAs.
LF371861 - JP 2014500723-A/179364: Polycomb-Associated Non-Coding RNAs.
LF371862 - JP 2014500723-A/179365: Polycomb-Associated Non-Coding RNAs.
LF371863 - JP 2014500723-A/179366: Polycomb-Associated Non-Coding RNAs.
LF371865 - JP 2014500723-A/179368: Polycomb-Associated Non-Coding RNAs.
LF371866 - JP 2014500723-A/179369: Polycomb-Associated Non-Coding RNAs.
JD277902 - Sequence 258926 from Patent EP1572962.
JD112179 - Sequence 93203 from Patent EP1572962.
JD537278 - Sequence 518302 from Patent EP1572962.
JD194634 - Sequence 175658 from Patent EP1572962.
JD135693 - Sequence 116717 from Patent EP1572962.
JD301464 - Sequence 282488 from Patent EP1572962.
DQ580707 - Homo sapiens piRNA piR-48819, complete sequence.
MA607433 - JP 2018138019-A/179359: Polycomb-Associated Non-Coding RNAs.
MA607437 - JP 2018138019-A/179363: Polycomb-Associated Non-Coding RNAs.
MA607438 - JP 2018138019-A/179364: Polycomb-Associated Non-Coding RNAs.
MA607439 - JP 2018138019-A/179365: Polycomb-Associated Non-Coding RNAs.
MA607440 - JP 2018138019-A/179366: Polycomb-Associated Non-Coding RNAs.
MA607442 - JP 2018138019-A/179368: Polycomb-Associated Non-Coding RNAs.
MA607443 - JP 2018138019-A/179369: Polycomb-Associated Non-Coding RNAs.
MA443645 - JP 2018138019-A/15571: Polycomb-Associated Non-Coding RNAs.
MA443646 - JP 2018138019-A/15572: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000328195.1, ENST00000328195.2, ENST00000328195.3, ENST00000328195.4, ENST00000328195.5, ENST00000328195.6, ENST00000328195.7, NM_007198, O94903, PLPBP , PLPHP_HUMAN, PROSC , Q6FI94, uc317slh.1, uc317slh.2
UCSC ID: ENST00000328195.8_4
RefSeq Accession: NM_007198.4
Protein: O94903 (aka PROSC_HUMAN or POSC_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PLPBP:
plpbp-def (PLPBP Deficiency)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.