Pdhb (pyruvate dehydrogenase E1 subunit beta)

Gene: Pdhb (pyruvate dehydrogenase E1 subunit beta) Ictidomys tridecemlineatus

Analyze

Symbol:

Pdhb

Name:

pyruvate dehydrogenase E1 subunit beta (Ensembl:pyruvate dehydrogenase E1 beta subunit)

RGD ID:

12621407

Description:

ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); pyruvate dehydrogenase (NAD+) activity (ortholog); INVOLVED IN acetyl-CoA biosynthetic process from pyruvate (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); pyruvate decarboxylase deficiency (ortholog); FOUND IN pyruvate dehydrogenase complex (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

pyruvate dehydrogenase (lipoamide) beta; pyruvate dehydrogenase E1 beta subunit; pyruvate dehydrogenase E1 component subunit beta, mitochondrial

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	169,442,034 - 169,447,686 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936473	2,580,618 - 2,586,266 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936473	2,580,642 - 2,586,266 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

epilepsy (ISO)

genetic disease (ISO)

pyruvate decarboxylase deficiency (ISO)

Pyruvate Dehydrogenase E1-Beta Deficiency (ISO)

Pyruvate Dehydrogenase Phosphatase Deficiency (ISO)

renal cell carcinoma (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

acetyl-CoA biosynthetic process from pyruvate (IEA,ISO)

glucose metabolic process (IEA)

Cellular Component

mitochondrion (IEA)

nucleoplasm (IEA)

pyruvate dehydrogenase complex (IEA,ISO)

Molecular Function

oxidoreductase activity (IEA)

protein binding (ISO)

pyruvate dehydrogenase (acetyl-transferring) activity (IEA,ISO)

pyruvate dehydrogenase (NAD+) activity (IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

citric acid cycle pathway (ISO)

fumaric aciduria pathway (ISO)

Leigh disease pathway (ISO)

mitochondrial complex II deficiency pathway (ISO)

primary hyperoxaluria type 2 pathway (ISO)

pyruvate decarboxylase deficiency pathway (ISO)

pyruvate dehydrogenase E1 deficiency pathway (ISO)

pyruvate dehydrogenase E2 deficiency pathway (ISO)

pyruvate dehydrogenase E3 deficiency pathway (ISO)

pyruvate kinase deficiency of red cells pathway (ISO)

pyruvate metabolic pathway (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Pdhb
(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_024405118	169,442,034 - 169,447,686 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936473	2,580,618 - 2,586,266 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936473	2,580,642 - 2,586,266 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PDHB
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	58,427,630 - 58,433,832 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	58,427,630 - 58,433,857 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	58,413,357 - 58,419,559 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	58,388,394 - 58,394,605 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	58,388,397 - 58,394,594	NCBI
Celera	3	58,427,174 - 58,433,398 (-)	NCBI		Celera
Cytogenetic Map	3	p14.3	NCBI
HuRef	3	58,509,470 - 58,515,692 (-)	NCBI		HuRef
CHM1_1	3	58,363,623 - 58,369,848 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	58,468,008 - 58,474,213 (-)	NCBI		T2T-CHM13v2.0

Pdhb
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	14,296,470 - 14,303,782 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	14,296,748 - 14,303,777 (+)	Ensembl		GRCm39 Ensembl
GRCm38	14	8,165,991 - 8,173,303 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	8,165,996 - 8,173,025 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	8,998,505 - 9,005,506 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	6,956,612 - 6,964,490 (-)	NCBI		MGSCv36	mm8
Celera	14	3,789,851 - 3,797,024 (-)	NCBI		Celera
Cytogenetic Map	14	A1	NCBI
cM Map	14	4.74	NCBI

Pdhb
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	19,182,789 - 19,188,731 (+)	NCBI		GRCr8
mRatBN7.2	15	16,752,561 - 16,758,503 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	16,750,980 - 16,758,500 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	18,927,415 - 18,933,373 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	19,885,878 - 19,891,836 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	18,140,784 - 18,146,742 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	18,540,826 - 18,546,855 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	18,539,210 - 18,546,854 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	22,507,861 - 22,513,890 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	18,737,449 - 18,743,391 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	18,737,448 - 18,743,390 (+)	NCBI
Celera	15	16,710,789 - 16,716,731 (+)	NCBI		Celera
Cytogenetic Map	15	p14	NCBI

Pdhb
(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_004955430	1,707,615 - 1,713,541 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955430	1,707,615 - 1,713,541 (+)	NCBI	ChiLan1.0	ChiLan1.0

PDHB
(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	2	58,398,731 - 58,405,135 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	58,403,507 - 58,409,861 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	58,359,753 - 58,366,094 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	59,776,216 - 59,782,461 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	59,776,618 - 59,782,411 (-)	Ensembl	panpan1.1		panPan2

PDHB
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	32,185,420 - 32,191,592 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	32,110,558 - 32,116,683 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	32,453,097 - 32,459,222 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	32,453,107 - 32,459,214 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	31,909,791 - 31,915,922 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	32,266,176 - 32,272,302 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	32,438,275 - 32,444,406 (+)	NCBI		UU_Cfam_GSD_1.0

PDHB
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	40,160,568 - 40,167,476 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	40,161,519 - 40,167,502 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	44,121,821 - 44,127,805 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PDHB
(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	22	19,718,610 - 19,725,037 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	22	19,718,353 - 19,725,036 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	147,098,867 - 147,105,329 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pdhb
(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_004624822	5,482,173 - 5,488,287 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624822	5,482,177 - 5,488,218 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005317162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000020961 ⟹ ENSSTOP00000019968

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936473	2,580,618 - 2,586,266 (+)	Ensembl

RefSeq Acc Id:

XM_005317162 ⟹ XP_005317219

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024405118	169,442,034 - 169,447,686 (+)	NCBI
SpeTri2.0	NW_004936473	2,580,642 - 2,586,266 (+)	NCBI

Sequence:

show sequence

TGTTGTCATTAGGCGACGGCTAGAGGACACGGTCAAGATGGCGGCGGTATCGGGGCTGGTGCGG
AGACCCCTTCAGCAGGTCTCCGGGCTGCTGAGGAGGCGCTTTCATCGGACCACGCCGGCCGCCC
TGCAGATGACAGTTCGAGATGCTATCAATCAAGGTATGGATGAGGAACTGGAAAGAGATGAGAA
GGTATTTCTTCTTGGGGAAGAAGTTGCCCAGTATGACGGGGCATACAAGGTTAGCCGAGGCCTG
TGGAAGAAATATGGAGACAAAAGGATTATAGATACTCCCATATCTGAGATGGGCTTTGCTGGAA
TTGCTGTCGGTGCAGCTATGGCTGGTTTGCGACCCATTTGTGAATTTATGACCTTTAATTTCTC
CATGCAAGCCATTGACCAGGTTATAAATTCAGCTGCCAAGACCTACTATATGTCAGGGGGCCTC
CAGTGTGTGCCCATAGTCTTCAGGGGGCCCAATGGTGCCTCAGCAGGTGTAGCTGCCCAGCACT
CACAGTGCTTTGCTGCGTGGTATGGGCACTGCCCAGGCTTAAAGGTGGTCAGCCCCTGGAATTC
AGAAGATGCGAAAGGACTCATCAAATCAGCCATTCGAGATAACAATCCAGTGGTGGTACTAGAG
AATGAATTGATGTACGGAGTTCCTTTTGAATTTCCTACAGAAGCTCAATCAAAAGATTTTCTGA
TTCCTATCGGAAAAGCCAAAGTAGAAAGGCAAGGGACACATATAACGGTGGTTTCCCACTCCAG
ACCTGTGGGCCACTGCTTAGAAGCTGCTACAGTGCTATCTAAAGAGGGAATTGAATGTGAGGTG
ATAAATATGCGTACCATCAGACCAATGGACATTGACACCATAGAAGCCAGTGTCATGAAGACAA
ATCATCTCATAACTGTGGAAGGAGGCTGGCCACAATTTGGAGTAGGAGCTGAAATTTGTGCCAG
GATCATGGAAGGCCCTGCATTCAATTTCCTGGATGCTCCTGCTGTTCGAGTCACTGGTGCTGAC
GTCCCTATGCCTTATGCAAAGATTCTAGAAGACAACTCTGTACCTCAGGTCAAGGACATCATAT
TTGCCATAAAGAAAACATTAAATATCTAGTTTGTACATGAATATCAAGTCACTGAAATTTACTT
AAAATACTTGCTGGGACTTCACATGGATTGTACTGTAAGACCTTACAATTCAAAAAGTTCTCTC
TAAGGCAGCAACAGGTGTTTTGTACTGGTGGGATGTTTGAATGTGTCTGAGTGGGGAAGACGCC
ACTCTTCTGCCCTAGACTCCATGCTTTCACTGTCTGTTACGGTTGTCCTGTTCTTTGAATGCAT
TAATGTAAAATTTTACCTCTTTTGCTAGAAGGACAAGGTATGAGTGTGGCATAGTACTGATGAA
AGTTATATCCAAAAAAGATAACTTATATGTATAAATAAAGTGTATAATCTACATTTACTGTTTG
ATTGTTTTGATAAGGAATAAAGTAATTCCTGATTATATTTTTTA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005317219	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000019968.1
GenBank Protein	KAG3279273	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

XP_005317219 ⟸ XM_005317162

- UniProtKB:

I3N6H2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAAVSGLVRRPLQQVSGLLRRRFHRTTPAALQMTVRDAINQGMDEELERDEKVFLLGEEVAQYD
GAYKVSRGLWKKYGDKRIIDTPISEMGFAGIAVGAAMAGLRPICEFMTFNFSMQAIDQVINSAA
KTYYMSGGLQCVPIVFRGPNGASAGVAAQHSQCFAAWYGHCPGLKVVSPWNSEDAKGLIKSAIR
DNNPVVVLENELMYGVPFEFPTEAQSKDFLIPIGKAKVERQGTHITVVSHSRPVGHCLEAATVL
SKEGIECEVINMRTIRPMDIDTIEASVMKTNHLITVEGGWPQFGVGAEICARIMEGPAFNFLDA
PAVRVTGADVPMPYAKILEDNSVPQVKDIIFAIKKTLNI

hide sequence

RefSeq Acc Id:

ENSSTOP00000019968 ⟸ ENSSTOT00000020961

Protein Domains

Transketolase-like pyrimidine-binding

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000019553	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000020961.2	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.920	UniProtKB/TrEMBL
	3.40.50.970	UniProtKB/TrEMBL
InterPro	PDHB	UniProtKB/TrEMBL
	THDP-binding	UniProtKB/TrEMBL
	Transketo_C/PFOR_II	UniProtKB/TrEMBL
	Transketolase-like_Pyr-bd	UniProtKB/TrEMBL
	Transketolase_C	UniProtKB/TrEMBL
NCBI Gene	Pdhb	ENTREZGENE
PANTHER	PTHR11624	UniProtKB/TrEMBL
	PYRUVATE DEHYDROGENASE E1 COMPONENT SUBUNIT BETA, MITOCHONDRIAL	UniProtKB/TrEMBL
Pfam	Transket_pyr	UniProtKB/TrEMBL
	Transketolase_C	UniProtKB/TrEMBL
SMART	Transket_pyr	UniProtKB/TrEMBL
Superfamily-SCOP	SSF52518	UniProtKB/TrEMBL
	SSF52922	UniProtKB/TrEMBL
UniProt	I3N6H2	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-08-18	Pdhb	pyruvate dehydrogenase E1 subunit beta	Pdhb	pyruvate dehydrogenase E1 beta subunit	Symbol and/or name change	5135510	APPROVED
2017-08-15	Pdhb	pyruvate dehydrogenase E1 beta subunit		pyruvate dehydrogenase (lipoamide) beta	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB