Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11212
Gene name Gene Name - the full gene name approved by the HGNC.	Pyridoxal phosphate binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PLPBP
Synonyms (NCBI Gene) Gene synonyms aliases	EPEO1, EPVB6D, PROSC
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EPEO1
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p11.23
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a pyridoxal 5`-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5`-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Na

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs752753379	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs755595256	GACA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs755946598	C>T	Pathogenic	Missense variant, coding sequence variant
rs760609867	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs767795673	G>A,T	Pathogenic	Splice donor variant
rs1057519273	C>G	Pathogenic	Coding sequence variant, stop gained
rs1057519424	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant

Show/Hide all(31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT574063	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT574061	hsa-miR-2278	PAR-CLIP	20371350
MIRT574062	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT574060	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT574059	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT574058	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT574057	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT574056	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT574055	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT574054	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT574053	hsa-miR-520a-5p	PAR-CLIP	20371350
MIRT574052	hsa-miR-525-5p	PAR-CLIP	20371350
MIRT574051	hsa-miR-7702	PAR-CLIP	20371350
MIRT574050	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT521649	hsa-miR-302f	PAR-CLIP	23446348
MIRT521648	hsa-miR-4438	PAR-CLIP	23446348
MIRT521647	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT521646	hsa-miR-186-3p	PAR-CLIP	23446348
MIRT521645	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT521644	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT521643	hsa-miR-2116-3p	PAR-CLIP	23446348
MIRT521642	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT521641	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT521640	hsa-miR-5702	PAR-CLIP	23446348
MIRT521638	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT521639	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT521637	hsa-miR-5095	PAR-CLIP	23446348
MIRT521635	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT521636	hsa-miR-4713-5p	PAR-CLIP	23446348
MIRT521634	hsa-miR-937-5p	PAR-CLIP	23446348
MIRT521633	hsa-miR-5089-5p	PAR-CLIP	23446348

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005622	Component	Intracellular anatomical structure	IBA	21873635
GO:0005737	Component	Cytoplasm	NAS	10496079
GO:0005829	Component	Cytosol	IDA
GO:0008150	Process	Biological_process	ND
GO:0030170	Function	Pyridoxal phosphate binding	IBA	21873635

MIM	HGNC	e!Ensembl
604436	9457	ENSG00000147471

Protein

UniProt ID

O94903

Protein name

Pyridoxal phosphate homeostasis protein (PLP homeostasis protein) (Proline synthase co-transcribed bacterial homolog protein) (Pyridoxal phosphate-binding protein)

Protein function

Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01168	Ala_racemase_N	15 → 251	Alanine racemase, N-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MWRAGSMSAELGVGCALRAVNERVQQAVARRPRDLPAIQPRLVAVSKTKPADMVIEAYGH
GQRTFGENYVQELLEKASNPKILSLCPEIKWHFIGHLQKQNVNKLMAVPNLFMLETVDSV
KLADKVNSSWQRKGSPERLKVMVQINTSGEESKHGLPPSETIAIVEHINAKCPNLEFVGL
MTIGSFGHDLSQGPNPDFQLLLSLREELCKKLNIPADQVELSMGMSADFQHAVEVGSTNV
RIGSTIFGERDYSKKPTPDKCAADVKAPLEVAQEH

Sequence length

275

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Epilepsy	EPILEPSY, PYRIDOXINE-DEPENDENT, EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)	27912044
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Pyridoxine-dependent epilepsy	Pyridoxine-dependent epilepsy	rs121912707, rs121912708, rs779494572, rs1561672504, rs121912709, rs387906574, rs121912710, rs121912711, rs201948406, rs794727058, rs556400964, rs796052267, rs186558364, rs796052271, rs754449549 View all (38 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Pyridoxine-Dependent Epilepsy	pyridoxine-dependent epilepsy			GenCC

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Epilepsy	Associate	27912044, 28914444
Pyridoxine dependent epilepsy	Associate	28779752

PLPBP (pyridoxal phosphate binding protein)