BCKDK (branched chain keto acid dehydrogenase kinase)

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Gene: BCKDK (branched chain keto acid dehydrogenase kinase) Homo sapiens

Analyze

Symbol:

BCKDK

Name:

branched chain keto acid dehydrogenase kinase

RGD ID:

69214

HGNC Page

HGNC

Description:

Predicted to have ATP binding activity and protein serine/threonine kinase activity. Predicted to be involved in several processes, including branched-chain amino acid catabolic process; glucose homeostasis; and negative regulation of pyruvate dehydrogenase activity. Localizes to mitochondrion. Implicated in branched-chain keto acid dehydrogenase kinase deficiency.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

3-methyl-2-oxobutanoate dehydrogenase [lipoamide] kinase, mitochondrial; [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; BCKD-kinase; BCKDHKIN; BCKDKD; BDK; branched chain alpha-ketoacid dehydrogenase kinase; branched chain ketoacid dehydrogenase kinase; branched-chain alpha-ketoacid dehydrogenase kinase

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	16	31,106,107 - 31,112,791 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	16	31,108,381 - 31,117,651 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	16	31,119,615 - 31,124,112 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	31,027,223 - 31,031,422 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	16	31,027,221 - 31,031,420	NCBI
Celera	16	29,173,915 - 29,178,365 (-)	NCBI
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI		HuRef
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (ISS)

branched-chain keto acid dehydrogenase kinase deficiency (IAGP,ISO)

epilepsy (IAGP)

oligospermia (ISO)

visual epilepsy (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

atrazine (EXP)

benzo[a]pyrene (EXP)

bucladesine (EXP)

cisplatin (EXP)

clobetasol (ISO)

clofibrate (ISO)

clofibric acid (ISO)

cobalt dichloride (EXP,ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

daidzein (EXP)

daidzein 7-O-beta-D-glucoside (EXP)

dibutyl phthalate (ISO)

dimethylarsinic acid (ISO)

doxorubicin (EXP)

fenofibrate (ISO)

folic acid (ISO)

formaldehyde (EXP)

genistein (EXP)

genistein 7-O-beta-D-glucoside (EXP)

glycitein (EXP)

glycitin (EXP)

hydralazine (EXP)

hydrogen peroxide (EXP)

hydroquinone O-beta-D-glucopyranoside (EXP)

hypochlorous acid (ISO)

isobutanol (EXP)

medroxyprogesterone acetate (EXP)

methapyrilene (ISO)

methoxyacetic acid (ISO)

N-nitrosodiethylamine (ISO)

nefazodone (ISO)

ochratoxin A (ISO)

oxaliplatin (ISO)

paracetamol (ISO)

pirinixic acid (ISO)

procymidone (ISO)

quercetin (EXP)

rac-lactic acid (EXP)

sodium dichromate (EXP)

sodium fluoride (ISO)

thapsigargin (EXP,ISO)

titanium dioxide (ISO)

topotecan (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

branched-chain amino acid catabolic process (ISS,TAS)

cellular amino acid catabolic process (NAS)

glucose homeostasis (IBA)

isoleucine catabolic process (ISO)

leucine catabolic process (ISO)

negative regulation of pyruvate dehydrogenase activity (IBA)

phosphorylation (ISS,TAS)

protein phosphorylation (IEA)

spermatogenesis (ISO)

valine catabolic process (ISO)

Cellular Component

mitochondrial alpha-ketoglutarate dehydrogenase complex (ISS,TAS)

mitochondrial matrix (IEA,TAS)

mitochondrion (HDA,IBA,IDA,TAS)

Molecular Function

[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (TAS)

ATP binding (IEA,ISS)

kinase activity (TAS)

protein binding (IPI)

protein kinase activity (IEA)

protein serine/threonine kinase activity (IBA,ISS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating branched chain amino acid concentration (IAGP)

Autism (IAGP)

Intellectual disability (IAGP)

Seizure (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline
3.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	RGD automated import pipeline for gene-chemical interactions
5.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6.	Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.

Additional References at PubMed

PMID:1377677	PMID:1889817	PMID:2403034	PMID:8889548	PMID:11839747	PMID:12023963	PMID:12477932	PMID:15302860	PMID:15489334	PMID:15604093	PMID:17353931	PMID:18985028
PMID:19913121	PMID:20628086	PMID:20811636	PMID:20833797	PMID:20877624	PMID:21832049	PMID:21873635	PMID:21988832	PMID:24449431	PMID:25064009	PMID:26186194	PMID:26972000
PMID:27107014	PMID:27432908	PMID:27499296	PMID:27503909	PMID:27773658	PMID:27880917	PMID:28319085	PMID:28501528	PMID:28514442	PMID:28718761	PMID:29509190	PMID:29540532
PMID:30021884	PMID:30196744	PMID:30581152	PMID:30833792	PMID:30880162	PMID:31527615	PMID:31540324	PMID:32238881	PMID:32296183	PMID:32353859	PMID:32877691	PMID:33060197

Genomics

Comparative Map Data

BCKDK
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	16	31,106,107 - 31,112,791 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	16	31,108,381 - 31,117,651 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	16	31,119,615 - 31,124,112 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	31,027,223 - 31,031,422 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	16	31,027,221 - 31,031,420	NCBI
Celera	16	29,173,915 - 29,178,365 (-)	NCBI
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI		HuRef
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI		CHM1_1

Bckdk
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	127,503,245 - 127,508,836 (+)	NCBI	GRCm39		mm39
GRCm38	7	127,904,073 - 127,909,664 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	127,904,082 - 127,910,221 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	135,047,587 - 135,053,178 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	7	127,695,221 - 127,700,812 (+)	NCBI			mm8
Celera	7	127,739,285 - 127,744,876 (+)	NCBI		Celera
Cytogenetic Map	7	F3	NCBI

Bckdk
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rnor_6.0	1	199,351,628 - 199,356,299 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	199,351,628 - 199,356,881 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	206,374,221 - 206,378,892 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	187,189,665 - 187,194,336 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	1	187,340,263 - 187,344,799 (+)	NCBI
Celera	1	180,166,156 - 180,170,827 (+)	NCBI		Celera
Cytogenetic Map	1	q37	NCBI

Bckdk
(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_004955493	7,940,315 - 7,946,317 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955493	7,940,358 - 7,946,317 (+)	NCBI	ChiLan1.0	ChiLan1.0

BCKDK
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	16	31,476,917 - 31,481,193 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	31,476,917 - 31,483,639 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	16	23,856,349 - 23,860,586 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

BCKDK
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	6	17,128,824 - 17,133,585 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	6	17,128,615 - 17,132,925 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Bckdk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936501	13,467,603 - 13,471,810 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BCKDK
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	17,375,352 - 17,402,204 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	17,375,628 - 17,380,925 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	17,491,364 - 17,496,671 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BCKDK
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	27,794,963 - 27,799,239 (+)	NCBI
ChlSab1.1 Ensembl	5	27,795,083 - 27,799,410 (+)	Ensembl

Bckdk
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624782	14,150,019 - 14,154,124 (+)	NCBI

Position Markers

SHGC-61092

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,123,705 - 31,123,877	UniSTS	GRCh37
Build 36	16	31,031,206 - 31,031,378	RGD	NCBI36
Celera	16	29,174,150 - 29,174,322	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	28,684,879 - 28,685,051	UniSTS

RH48904

Human Assembly	Chr	Position (strand)	Source	JBrowse
Celera	16	29,178,263 - 29,178,384	RGD
Cytogenetic Map	16	p11.2	UniSTS

BCKDK_9086

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,123,480 - 31,124,098	UniSTS	GRCh37
Build 36	16	31,030,981 - 31,031,599	RGD	NCBI36
Celera	16	29,173,929 - 29,174,547	RGD
HuRef	16	28,684,654 - 28,685,272	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3758
Count of miRNA genes:	901
Interacting mature miRNAs:	1102
Transcripts:	ENST00000219794, ENST00000287507, ENST00000394950, ENST00000394951, ENST00000484226, ENST00000561755, ENST00000566568, ENST00000567530, ENST00000567676, ENST00000567682
Prediction methods:	Microtar, 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

Medium

2433

2895

1714

618

1873

459

4355

2127

3231

412

1453

1611

175

1204

2786

Low

503

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001122957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001271926	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017022859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC135050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF026548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM679327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX427330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR542093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000219794 ⟹ ENSP00000219794

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,386 - 31,112,791 (+)	Ensembl

RefSeq Acc Id:

ENST00000287507 ⟹ ENSP00000287507

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,294 - 31,112,567 (+)	Ensembl

RefSeq Acc Id:

ENST00000394950 ⟹ ENSP00000378404

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,294 - 31,112,567 (+)	Ensembl

RefSeq Acc Id:

ENST00000394951 ⟹ ENSP00000378405

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,106,107 - 31,112,567 (+)	Ensembl

RefSeq Acc Id:

ENST00000484226 ⟹ ENSP00000457226

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,109,120 - 31,110,722 (+)	Ensembl

RefSeq Acc Id:

ENST00000561755 ⟹ ENSP00000455866

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,484 - 31,109,403 (+)	Ensembl

RefSeq Acc Id:

ENST00000566568

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,449 - 31,112,566 (+)	Ensembl

RefSeq Acc Id:

ENST00000567530 ⟹ ENSP00000456479

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,294 - 31,112,533 (+)	Ensembl

RefSeq Acc Id:

ENST00000567676 ⟹ ENSP00000454947

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,934 - 31,109,579 (+)	Ensembl

RefSeq Acc Id:

ENST00000567682 ⟹ ENSP00000457821

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,111,368 - 31,112,454 (+)	Ensembl

RefSeq Acc Id:

NM_001122957 ⟹ NP_001116429

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,112,838 (+)	NCBI
Celera	16	29,173,915 - 29,178,365 (-)	RGD
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI

Sequence:

show sequence

GGCGTGGCCTGGATGCGCGGGCGCCCGGGACGGCACGTCCTCAGACCAAACTACAACTCCCAGG
ACCCAGCGGGCGCTGCCGCCCACGCGACGTCACGGCGGCGGAGGGCGCAGGCGGCTGGGCGCCT
GGCGAGTGGACTGTTCGAGCCCTTCCGCTGGGACCCGGGCCCTGGCTCCGGCCCCGCGATGGGA
GCTGCTCTCCGCGGGCTGAGCCTGTCAGCATCCTCGACGCACCCTGGTCCCTGAAGTCGGAGAA
GAGCCCCTACCCACCCACACCCCCTTGCCCCATTTTGGGTCGCCTGGGTCCTCAGTCCTAGCGG
ATCCTCAGTCCTAGCGGCCACCGGGTCTGAAAGGAGCAAGACGATGATCCTGGCGTCGGTGCTG
AGGAGCGGTCCCGGGGGCGGGCTTCCGCTCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGG
CCCGCTCGACGTCGGCCACCGACACACACCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGT
CACCTCCTTTTACAACCAGTCGGCCATCGACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACG
CCCACCATGATGCTCTACGCTGGCCGCTCTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGT
ACCTGCAGCAAGAACTTCCAGTGAGGATTGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTT
CATCATTGGCTGCAACCCCACCATACTGCACGTGCATGAGCTATATATCCGTGCCTTCCAGAAG
CTGACAGACTTCCCTCCGATCAAGGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGAC
AGCTGCTGGATGACCACAAGGATGTGGTGACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAA
GCACATAGAGGATGAAAAGCTCGTCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGA
ATCCGCATGTTGGCCACGCATCACCTGGCGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCA
TCTGTACTCGTCTCTCACCAAAGAAGATTATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTG
TGAGCACAAGTATGGCAATGCGCCCCGTGTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCC
TTCATCCCTATGCCACTGGACTACATCCTGCCGGAGCTGCTCAAGAATGCCATGAGAGCCACAA
TGGAGAGTCACCTAGACACTCCCTACAATGTCCCAGATGTGGTCATCACCATCGCCAACAATGA
TGTCGATCTGATCATCAGGATCTCAGACCGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGG
GTCATGGACTACCACTTCACTACTGCTGAGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCT
TTGGCCATCTGGACATGCATAGTGGCGCCCAGTCAGGACCCATGCACGGGTGAGACCCTGCCAG
GCCAGGATGGAGGGGTGGGGGACCCCAGGAGACTCAAGCCTCTGAAGCCTCCTGTCCTGTCCCC
CTGCCCACCCCCAGCTTTGGCTTCGGGTTGCCCACGTCACGGGCCTACGCGGAGTACCTCGGTG
GGTCTCTGCAGCTGCAGTCCCTGCAGGGCATTGGCACGGACGTCTACCTGCGGCTCCGCCACAT
CGATGGCCGGGAGGAAAGCTTCCGGATCTGACCCCACAGCCTTTGGCCTGCTCACCCGACCAGC
CTGGGCCGCATTCCCTGCAGGACCTCCCGGGTCAGGCAGGGCGGCCCCCTGCTCCACACACTGC
TGCATCTTGGGTCTCAGGGACCCAGACAGATGGACTTACATGGAGCTGGGCACTGCCCTGCCTC
AACAGGGTCCATTGCCTCCTCGCCTCCAGAACTTGGAGCAGGGAAGTGGGCACCCTGAGGCCTC
CAGCACCAGTTCCGTCATTCTCGTTCCTGGGGAACCCCCACTCTGACCTGTTATTAAAGTTCAC
ATTTTGAATGCCCTCTCGGGCCCCGTGTGTGGGGAGGGCAGGTGAACTTTTGTTTCTGCCCCCA
TTCAGGTTCACTGAGCCCTTGGGTTGAACTGGTTCGTGTCCCAGTCTCTTACCTGCCCTGAGAG
CCTGGCAGGCCAGGAGTAGAATGGGTCCCAAGTCTGTTGCATGTTTGATTTGGTGGGAGTGGGA
TGACTGCAGCACCTTATACAAAGAGCTTTCATTCATCTTGTTGAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001271926 ⟹ NP_001258855

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,112,838 (+)	NCBI
GRCh37	16	31,119,615 - 31,124,112 (+)	NCBI
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI

Sequence:

show sequence

GGCGTGGCCTGGATGCGCGGGCGCCCGGGACGGCACGTCCTCAGACCAAACTACAACTCCCAGG
ACCCAGCGGGCGCTGCCGCCCACGCGACGTCACGGCGGCGGAGGGCGCAGGCGGCTGGGCGCCT
GGCGAGTGGACTGTTCGAGCCCTTCCGCTGGGACCCGGGCCCTGGCTCCGGCCCCGCGATGGGA
GCTGCTCTCCGCGGGCTGAGCCTGTCAGCATCCTCGACGCACCCTGGTCCCTGAAGTCGGAGAA
GAGCCCCTACCCACCCACACCCCCTTGCCCCATTTTGGGTCGCCTGGGTCCTCAGTCCTAGCGG
ATCCTCAGTCCTAGCGGCCACCGGGTCTGAAAGGAGCAAGACGATGATCCTGGCGTCGGTGCTG
AGGAGCGGTCCCGGGGGCGGGCTTCCGCTCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGG
CCCGCTCGACGTCGGCCACCGACACACACCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGT
CACCTCCTTTTACAACCAGTCGGCCATCGACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACG
CCCACCATGATGCTCTACGCTGGCCGCTCTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGT
ACCTGCAGCAAGAACTTCCAGTGAGGATTGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTT
CATCATTGGCTGCAACCCCACCATACTGCACGTGCATGAGCTATATATCCGTGCCTTCCAGAAG
CTGACAGACTTCCCTCCGATCAAGGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGAC
AGCTGCTGGATGACCACAAGGATGTGGTGACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAA
GCACATAGAGGATGAAAAGCTCGTCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGA
ATCCGCATGTTGGCCACGCATCACCTGGCGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCA
TCTGTACTCGTCTCTCACCAAAGAAGATTATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTG
TGAGCACAAGTATGGCAATGCGCCCCGTGTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCC
TTCATCCCTATGCCACTGGACTACATCCTGCCGGAGCTGCTCAAGAATGCCATGAGGATCTCAG
ACCGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTACTGC
TGAGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCTTTGGCCATCTGGACATGCATAGTGGC
GCCCAGTCAGGACCCATGCACGGGTGAGACCCTGCCAGGCCAGGATGGAGGGGTGGGGGACCCC
AGGAGACTCAAGCCTCTGAAGCCTCCTGTCCTGTCCCCCTGCCCACCCCCAGCTTTGGCTTCGG
GTTGCCCACGTCACGGGCCTACGCGGAGTACCTCGGTGGGTCTCTGCAGCTGCAGTCCCTGCAG
GGCATTGGCACGGACGTCTACCTGCGGCTCCGCCACATCGATGGCCGGGAGGAAAGCTTCCGGA
TCTGACCCCACAGCCTTTGGCCTGCTCACCCGACCAGCCTGGGCCGCATTCCCTGCAGGACCTC
CCGGGTCAGGCAGGGCGGCCCCCTGCTCCACACACTGCTGCATCTTGGGTCTCAGGGACCCAGA
CAGATGGACTTACATGGAGCTGGGCACTGCCCTGCCTCAACAGGGTCCATTGCCTCCTCGCCTC
CAGAACTTGGAGCAGGGAAGTGGGCACCCTGAGGCCTCCAGCACCAGTTCCGTCATTCTCGTTC
CTGGGGAACCCCCACTCTGACCTGTTATTAAAGTTCACATTTTGAATGCCCTCTCGGGCCCCGT
GTGTGGGGAGGGCAGGTGAACTTTTGTTTCTGCCCCCATTCAGGTTCACTGAGCCCTTGGGTTG
AACTGGTTCGTGTCCCAGTCTCTTACCTGCCCTGAGAGCCTGGCAGGCCAGGAGTAGAATGGGT
CCCAAGTCTGTTGCATGTTTGATTTGGTGGGAGTGGGATGACTGCAGCACCTTATACAAAGAGC
TTTCATTCATCTTGTTGAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_005881 ⟹ NP_005872

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,112,791 (+)	NCBI
GRCh37	16	31,119,615 - 31,124,112 (+)	NCBI
Build 36	16	31,027,223 - 31,031,422 (+)	NCBI Archive
Celera	16	29,173,915 - 29,178,365 (-)	RGD
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI

Sequence:

show sequence

GGCGTGGCCTGGATGCGCGGGCGCCCGGGACGGCACGTCCTCAGACCAAACTACAACTCCCAGG
ACCCAGCGGGCGCTGCCGCCCACGCGACGTCACGGCGGCGGAGGGCGCAGGCGGCTGGGCGCCT
GGCGAGTGGACTGTTCGAGCCCTTCCGCTGGGACCCGGGCCCTGGCTCCGGCCCCGCGATGGGA
GCTGCTCTCCGCGGGCTGAGCCTGTCAGCATCCTCGACGCACCCTGGTCCCTGAAGTCGGAGAA
GAGCCCCTACCCACCCACACCCCCTTGCCCCATTTTGGGTCGCCTGGGTCCTCAGTCCTAGCGG
ATCCTCAGTCCTAGCGGCCACCGGGTCTGAAAGGAGCAAGACGATGATCCTGGCGTCGGTGCTG
AGGAGCGGTCCCGGGGGCGGGCTTCCGCTCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGG
CCCGCTCGACGTCGGCCACCGACACACACCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGT
CACCTCCTTTTACAACCAGTCGGCCATCGACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACG
CCCACCATGATGCTCTACGCTGGCCGCTCTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGT
ACCTGCAGCAAGAACTTCCAGTGAGGATTGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTT
CATCATTGGCTGCAACCCCACCATACTGCACGTGCATGAGCTATATATCCGTGCCTTCCAGAAG
CTGACAGACTTCCCTCCGATCAAGGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGAC
AGCTGCTGGATGACCACAAGGATGTGGTGACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAA
GCACATAGAGGATGAAAAGCTCGTCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGA
ATCCGCATGTTGGCCACGCATCACCTGGCGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCA
TCTGTACTCGTCTCTCACCAAAGAAGATTATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTG
TGAGCACAAGTATGGCAATGCGCCCCGTGTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCC
TTCATCCCTATGCCACTGGACTACATCCTGCCGGAGCTGCTCAAGAATGCCATGAGAGCCACAA
TGGAGAGTCACCTAGACACTCCCTACAATGTCCCAGATGTGGTCATCACCATCGCCAACAATGA
TGTCGATCTGATCATCAGGATCTCAGACCGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGG
GTCATGGACTACCACTTCACTACTGCTGAGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCT
TTGGCCATCTGGACATGCATAGTGGCGCCCAGTCAGGACCCATGCACGGCTTTGGCTTCGGGTT
GCCCACGTCACGGGCCTACGCGGAGTACCTCGGTGGGTCTCTGCAGCTGCAGTCCCTGCAGGGC
ATTGGCACGGACGTCTACCTGCGGCTCCGCCACATCGATGGCCGGGAGGAAAGCTTCCGGATCT
GACCCCACAGCCTTTGGCCTGCTCACCCGACCAGCCTGGGCCGCATTCCCTGCAGGACCTCCCG
GGTCAGGCAGGGCGGCCCCCTGCTCCACACACTGCTGCATCTTGGGTCTCAGGGACCCAGACAG
ATGGACTTACATGGAGCTGGGCACTGCCCTGCCTCAACAGGGTCCATTGCCTCCTCGCCTCCAG
AACTTGGAGCAGGGAAGTGGGCACCCTGAGGCCTCCAGCACCAGTTCCGTCATTCTCGTTCCTG
GGGAACCCCCACTCTGACCTGTTATTAAAGTTCACATTTTGAATGCCCTCTCGGGCCCCGTGTG
TGGGGAGGGCAGGTGAACTTTTGTTTCTGCCCCCATTCAGGTTCACTGAGCCCTTGGGTTGAAC
TGGTTCGTGTCCCAGTCTCTTACCTGCCCTGAGAGCCTGGCAGGCCAGGAGTAGAATGGGTCCC
AAGTCTGTTGCATGTTTGATTTGGTGGGAGTGGGATGACTGCAGCACCTTATACAAAGAGCTTT
CATTCATCTTGTTGAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_017022859 ⟹ XP_016878348

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,381 - 31,117,651 (+)	NCBI

Sequence:

show sequence

GCGACGTCACGGCGGCGGAGGGCGCAGGCGGCTGGGCGCCTGGCGAGTGGACTGTTCGAGCCCT
TCCGCTGGGACCCGGGCCCTGGCTCCGGCCCCGCGATGGGAGCTGCTCTCCGCGGGCTGAGCCT
GTCAGCATCCTCGACGCACCCTGGTCCCTGAAGTCGGAGAAGAGCCCCTACCCACCCACACCCC
CTTGCCCCATTTTGGGTCGCCTGGGTCCTCAGTCCTAGCGGATCCTCAGTCCTAGCGGCCACCG
GGTCTGAAAGGAGCAAGACGATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCT
TCCGCTCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACCGAC
ACACACCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGG
CCATCGACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACGCCCACCATGATGCTCTACGCTGG
CCGCTCTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTG
AGGATTGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCCACCA
TACTGCACGTGCATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCTCCGATCAA
GGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGAT
GTGGTGACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAAGCACATAGAGGATGAAAAGCTCG
TCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATCCGCATGTTGGCCACGCATCA
CCTGGCGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCATCTGTACTCGTCTCTCACCAAAG
AAGATTATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTGTGAGCACAAGTATGGCAATGCGC
CCCGTGTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCCTTCATCCCTATGCCACTGGACTA
CATCCTGCCGGAGCTGCTCAAGAATGCCATGAGAGCCACAATGGAGAGTCACCTAGACACTCCC
TACAATGTCCCAGATGTGGTCATCACCATCGCCAACAATGATGTCGATCTGATCATCAGGATCT
CAGACCGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTAC
TGCTGAGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCTTTGGCCATCTGGACATGCATAGT
GGCGCCCAGTCAGGACCCATGCACGGGCTGCAGCCACAGGTCCGCACGGAAAACCAGGAGCTCC
AAGACTGCCGCACACTCAACATCCAACTCGCGGGGCCGCGGGGACGGCCACAGAAGCCAATCGG
CTCCTGCTACATCACAGACCCCGCCCTCAAACCTTGAGGAGCCCGCCCCACGCACTGCTGACCC
GGAGCCAAAAGAACTGCGTGGCG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001116429	(Get FASTA)	NCBI Sequence Viewer
	NP_001258855	(Get FASTA)	NCBI Sequence Viewer
	NP_005872	(Get FASTA)	NCBI Sequence Viewer
	XP_016878348	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB82714	(Get FASTA)	NCBI Sequence Viewer
	AAH07363	(Get FASTA)	NCBI Sequence Viewer
	AAH09872	(Get FASTA)	NCBI Sequence Viewer
	BAG57850	(Get FASTA)	NCBI Sequence Viewer
	CAG46890	(Get FASTA)	NCBI Sequence Viewer
	EAW52160	(Get FASTA)	NCBI Sequence Viewer
	EAW52161	(Get FASTA)	NCBI Sequence Viewer
	EAW52162	(Get FASTA)	NCBI Sequence Viewer
	EAW52163	(Get FASTA)	NCBI Sequence Viewer
	EAW52164	(Get FASTA)	NCBI Sequence Viewer
	O14874	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001116429 ⟸ NM_001122957
- Peptide Label:	isoform b precursor
- UniProtKB:	O14874 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAE KPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHEL YIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDK TLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRING HVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG hide sequence

RefSeq Acc Id:	NP_005872 ⟸ NM_005881
- Peptide Label:	isoform a precursor
- UniProtKB:	O14874 (UniProtKB/Swiss-Prot), A0A024QZA9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAE KPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHEL YIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDK TLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRING HVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSL QLQSLQGIGTDVYLRLRHIDGREESFRI hide sequence

RefSeq Acc Id:	NP_001258855 ⟸ NM_001271926
- Peptide Label:	isoform c
- UniProtKB:	O14874 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAE KPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHEL YIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDK TLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRING HVAARFPFIPMPLDYILPELLKNAMRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFG HLDMHSGAQSGPMHG hide sequence

RefSeq Acc Id:

XP_016878348 ⟸ XM_017022859

- Peptide Label:

isoform X1

- Sequence:

show sequence

MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAE
KPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHEL
YIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDK
TLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRING
HVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGLQPQVRTENQELQDCRTLN
IQLAGPRGRPQKPIGSCYITDPALKP

hide sequence

RefSeq Acc Id:

ENSP00000219794 ⟸ ENST00000219794

RefSeq Acc Id:

ENSP00000455866 ⟸ ENST00000561755

RefSeq Acc Id:

ENSP00000287507 ⟸ ENST00000287507

RefSeq Acc Id:

ENSP00000457226 ⟸ ENST00000484226

RefSeq Acc Id:

ENSP00000378404 ⟸ ENST00000394950

RefSeq Acc Id:

ENSP00000378405 ⟸ ENST00000394951

RefSeq Acc Id:

ENSP00000454947 ⟸ ENST00000567676

RefSeq Acc Id:

ENSP00000457821 ⟸ ENST00000567682

RefSeq Acc Id:

ENSP00000456479 ⟸ ENST00000567530

Protein Domains

BCDHK_Adom3 Histidine kinase

Promoters

RGD ID:

6793010

Promoter ID:

HG_KWN:23600

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000394951

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,024,501 - 31,025,001 (+)	MPROMDB

RGD ID:

6793012

Promoter ID:

HG_KWN:23601

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000394950, ENST00000394952, OTTHUMT00000108511, OTTHUMT00000108515, UC010CAH.1, UC010CAI.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,026,551 - 31,027,262 (+)	MPROMDB

RGD ID:

6851330

Promoter ID:

EP73463

Type:

initiation region

Name:

HS_BCKDK

Description:

Branched chain alpha-ketoacid dehydrogenase kinase.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,027,208 - 31,027,268	EPD

RGD ID:

6814573

Promoter ID:

HG_XEF:3021

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

NM_001091543, NM_213060

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,027,941 - 31,028,441 (+)	MPROMDB

RGD ID:

7232075

Promoter ID:

EPDNEW_H21783

Type:

initiation region

Name:

BCKDK_1

Description:

branched chain ketoacid dehydrogenase kinase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,108,446	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032959]	Chr16:31110247 [GRCh38] Chr16:31121568 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.222del (p.Met74fs)	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032960]	Chr16:31109537 [GRCh38] Chr16:31120858 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032961]	Chr16:31110716 [GRCh38] Chr16:31122037 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.3(BCKDK):c.302G>A (p.Arg101Lys)	single nucleotide variant	Malignant melanoma [RCV000071097]	Chr16:31109710 [GRCh38] Chr16:31121031 [GRCh37] Chr16:31028532 [NCBI36] Chr16:16p11.2	not provided
NM_005881.4(BCKDK):c.1149_1163del (p.Leu386_Gln390del)	deletion	not provided [RCV000081334]	Chr16:31112172..31112186 [GRCh38] Chr16:31123493..31123507 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.615G>A (p.Thr205=)	single nucleotide variant	not specified [RCV000116491]	Chr16:31110472 [GRCh38] Chr16:31121793 [GRCh37] Chr16:16p11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005881.4(BCKDK):c.845+10C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001086976]\|not provided [RCV000711444]\|not specified [RCV000116492]	Chr16:31111229 [GRCh38] Chr16:31122550 [GRCh37] Chr16:16p11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735204]\|not provided [RCV000724088]	Chr16:31111301 [GRCh38] Chr16:31122622 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000765289]\|not provided [RCV000173819]	Chr16:31111358 [GRCh38] Chr16:31122679 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001087829]\|not provided [RCV000174344]	Chr16:31112244 [GRCh38] Chr16:31123565 [GRCh37] Chr16:16p11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)	single nucleotide variant	not provided [RCV000174345]	Chr16:31112130 [GRCh38] Chr16:31123451 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.*9C>T	single nucleotide variant	not provided [RCV000174346]	Chr16:31112274 [GRCh38] Chr16:31123595 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	copy number gain	See cases [RCV000133811]	Chr16:30691912..36160463 [GRCh38] Chr16:30703233..35147508 [GRCh37] Chr16:30610734..35005009 [NCBI36] Chr16:16p11.2-11.1	pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	copy number gain	See cases [RCV000135339]	Chr16:29909613..31438697 [GRCh38] Chr16:29920934..31450018 [GRCh37] Chr16:29828435..31357519 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	copy number gain	See cases [RCV000140341]	Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	copy number gain	See cases [RCV000141141]	Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2	pathogenic
NM_005881.4(BCKDK):c.716+10G>C	single nucleotide variant	not provided [RCV000152851]	Chr16:31110771 [GRCh38] Chr16:31122092 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.846-3T>A	single nucleotide variant	not provided [RCV000152852]	Chr16:31111297 [GRCh38] Chr16:31122618 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.47C>T (p.Pro16Leu)	single nucleotide variant	not provided [RCV000175815]	Chr16:31109270 [GRCh38] Chr16:31120591 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.669T>C (p.Thr223=)	single nucleotide variant	not specified [RCV000192549]	Chr16:31110714 [GRCh38] Chr16:31122035 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.373G>A (p.Val125Met)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000822778]\|not provided [RCV000178252]	Chr16:31109781 [GRCh38] Chr16:31121102 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1058A>G (p.Asp353Gly)	single nucleotide variant	not specified [RCV000194486]	Chr16:31111991 [GRCh38] Chr16:31123312 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.488A>G (p.Lys163Arg)	single nucleotide variant	not provided [RCV000179455]	Chr16:31110269 [GRCh38] Chr16:31121590 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr)	single nucleotide variant	not provided [RCV000180288]	Chr16:31110737 [GRCh38] Chr16:31122058 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4	copy number gain	Ductal breast carcinoma [RCV000207157]	Chr16:31123271..31153163 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	copy number gain	Ductal breast carcinoma [RCV000207028]	Chr16:30391304..31122666 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Ductal breast carcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
NM_005881.4(BCKDK):c.561C>A (p.Arg187=)	single nucleotide variant	not specified [RCV000252537]	Chr16:31110418 [GRCh38] Chr16:31121739 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.466C>G (p.Arg156Gly)	single nucleotide variant	not provided [RCV000317979]	Chr16:31110247 [GRCh38] Chr16:31121568 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001088887]\|Seizures [RCV001255072]\|not provided [RCV000296147]	Chr16:31111999 [GRCh38] Chr16:31123320 [GRCh37] Chr16:16p11.2	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005881.4(BCKDK):c.*9C>A	single nucleotide variant	not provided [RCV000403753]	Chr16:31112274 [GRCh38] Chr16:31123595 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1115C>T (p.Thr372Met)	single nucleotide variant	not provided [RCV000266572]	Chr16:31112141 [GRCh38] Chr16:31123462 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1120C>T (p.Arg374Trp)	single nucleotide variant	not provided [RCV000598139]	Chr16:31112146 [GRCh38] Chr16:31123467 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.721C>T (p.Leu241=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001088898]\|not provided [RCV000598266]	Chr16:31111095 [GRCh38] Chr16:31122416 [GRCh37] Chr16:16p11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
Single allele	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205]	Chr16:30554158..31536880 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.670C>T (p.Arg224Cys)	single nucleotide variant	not provided [RCV000728717]	Chr16:31110715 [GRCh38] Chr16:31122036 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000806066]	Chr16:31109416 [GRCh38] Chr16:31120737 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30943854-31171177)x1	copy number loss	See cases [RCV000446201]	Chr16:30943854..31171177 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_005881.4(BCKDK):c.249C>A (p.Asp83Glu)	single nucleotide variant	not provided [RCV000434422]	Chr16:31109564 [GRCh38] Chr16:31120885 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.943G>C (p.Asp315His)	single nucleotide variant	not provided [RCV000435935]	Chr16:31111876 [GRCh38] Chr16:31123197 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4	copy number gain	See cases [RCV000447708]	Chr16:30830287..31827011 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000448084]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000503689]	Chr16:31110234 [GRCh38] Chr16:31121555 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_005881.4(BCKDK):c.1233G>C (p.Arg411=)	single nucleotide variant	not specified [RCV000501907]	Chr16:31112259 [GRCh38] Chr16:31123580 [GRCh37] Chr16:16p11.2	likely benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	copy number loss	See cases [RCV000511906]	Chr16:30952806..31177641 [GRCh37] Chr16:16p11.2	likely pathogenic
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)	single nucleotide variant	not provided [RCV000596818]	Chr16:31112211 [GRCh38] Chr16:31123532 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1021C>A (p.Gln341Lys)	single nucleotide variant	not provided [RCV000595691]	Chr16:31111954 [GRCh38] Chr16:31123275 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3	copy number gain	not provided [RCV000739123]	Chr16:30738551..34194635 [GRCh37] Chr16:16p11.2	benign
NM_005881.4(BCKDK):c.1116G>A (p.Thr372=)	single nucleotide variant	not provided [RCV000982446]	Chr16:31112142 [GRCh38] Chr16:31123463 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.717-5C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000966245]	Chr16:31111086 [GRCh38] Chr16:31122407 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000965327]	Chr16:31109404 [GRCh38] Chr16:31120725 [GRCh37] Chr16:16p11.2	benign
NM_005881.4(BCKDK):c.79C>T (p.Leu27Phe)	single nucleotide variant	not provided [RCV000996258]	Chr16:31109302 [GRCh38] Chr16:31120623 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.357C>A (p.Asn119Lys)	single nucleotide variant	not provided [RCV000996259]	Chr16:31109765 [GRCh38] Chr16:31121086 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.822G>A (p.Pro274=)	single nucleotide variant	not provided [RCV000881134]	Chr16:31111196 [GRCh38] Chr16:31122517 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.588G>A (p.Ser196=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000960499]	Chr16:31110445 [GRCh38] Chr16:31121766 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.936-10A>G	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000893473]	Chr16:31111859 [GRCh38] Chr16:31123180 [GRCh37] Chr16:16p11.2	likely benign
GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	copy number loss	not provided [RCV000848082]	Chr16:30851860..31156762 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.196-8del	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000794091]	Chr16:31109501 [GRCh38] Chr16:31120822 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp)	single nucleotide variant	not provided [RCV000991895]	Chr16:31110310 [GRCh38] Chr16:31121631 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001214578]	Chr16:31111167 [GRCh38] Chr16:31122488 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1068T>C (p.Ser356=)	single nucleotide variant	not provided [RCV000944139]	Chr16:31112001 [GRCh38] Chr16:31123322 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001244947]	Chr16:31109755 [GRCh38] Chr16:31121076 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.86C>T (p.Ala29Val)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001227743]	Chr16:31109309 [GRCh38] Chr16:31120630 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.372C>T (p.His124=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000934309]	Chr16:31109780 [GRCh38] Chr16:31121101 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001050112]	Chr16:31111305 [GRCh38] Chr16:31122626 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001228688]	Chr16:31111943 [GRCh38] Chr16:31123264 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	copy number gain	Microcephaly [RCV001252948]	Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	copy number gain	not provided [RCV001258619]	Chr16:30350747..31905898 [GRCh37] Chr16:16p11.2	uncertain significance

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16902	AgrOrtholog
COSMIC	BCKDK	COSMIC
Ensembl Genes	ENSG00000103507	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000219794	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000287507	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000378404	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000378405	UniProtKB/Swiss-Prot
	ENSP00000454947	UniProtKB/TrEMBL
	ENSP00000455866	UniProtKB/TrEMBL
	ENSP00000456479	UniProtKB/TrEMBL
	ENSP00000457226	UniProtKB/TrEMBL
	ENSP00000457821	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000219794	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000287507	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000394950	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000394951	UniProtKB/Swiss-Prot
	ENST00000484226	UniProtKB/TrEMBL
	ENST00000561755	UniProtKB/TrEMBL
	ENST00000567530	UniProtKB/TrEMBL
	ENST00000567676	UniProtKB/TrEMBL
	ENST00000567682	UniProtKB/TrEMBL
Gene3D-CATH	1.20.140.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.565.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000103507	GTEx
HGNC ID	HGNC:16902	ENTREZGENE
Human Proteome Map	BCKDK	Human Proteome Map
InterPro	AK/P_DHK_N_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BCDHK/PDK_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BCKD/PDK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_C_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	His_kinase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sig_transdc_His_kin-like_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10295	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	10295	ENTREZGENE
OMIM	614901	OMIM
	614923	OMIM
PANTHER	PTHR11947	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	BCDHK_Adom3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134899581	PharmGKB
PRINTS	BCTRLSENSOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	HIS_KIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HATPase_c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF55874	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF69012	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene	Hs.513520	ENTREZGENE
UniProt	A0A024QZA9	ENTREZGENE, UniProtKB/TrEMBL
	BCKD_HUMAN	UniProtKB/Swiss-Prot
	H3BNP3_HUMAN	UniProtKB/TrEMBL
	H3BQP2_HUMAN	UniProtKB/TrEMBL
	H3BS02_HUMAN	UniProtKB/TrEMBL
	H3BTL2_HUMAN	UniProtKB/TrEMBL
	H3BUV3_HUMAN	UniProtKB/TrEMBL
	O14874	ENTREZGENE
UniProt Secondary	A8MY43	UniProtKB/Swiss-Prot
	Q6FGL4	UniProtKB/Swiss-Prot
	Q96G95	UniProtKB/Swiss-Prot
	Q96IN5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-04-30	BCKDK	branched chain keto acid dehydrogenase kinase		branched chain ketoacid dehydrogenase kinase	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 - MGI

Imported Disease Annotations - OMIM