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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CPT1B Gene

protein-coding GIFtS: 66
GCID: GC22M051008

Carnitine Palmitoyltransferase 1B (Muscle)

Microbiology & Infectious Diseases Congress

17 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Carnitine Palmitoyltransferase 1B (Muscle)¹ ²		MCPT1²
Carnitine Palmitoyltransferase I-Like Protein² ³		Carnitine O-Palmitoyltransferase 1, Muscle Isoform²
CPT1-M² ³		Carnitine O-Palmitoyltransferase I, Mitochondrial Muscle Isoform²
CPTI-M² ³		KIAA1670³
EC 2.3.1.21³ ⁸		Carnitine O-Palmitoyltransferase I, Muscle Isoform³
CPT1M²		Carnitine Palmitoyltransferase 1B³
CPTI²		CPT I³
M-CPT1²		EC 2.3.1⁸
MCCPT1²

External Ids:	HGNC: 2329¹	Entrez Gene: 1375²	Ensembl: ENSG00000205560⁷	OMIM: 601987⁵	UniProtKB: Q92523³

ORGUL members:
	NONCODE¹⁴:n408072

Export aliases for CPT1B gene to outside databases

Previous GC identifers: GC22U990008 GC22M047513 GC22M049140 GC22M049143 GC22M049145 GC22M049299 GC22M049300 GC22M049354 GC22M033899

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CPT1B Gene:

The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the

rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme

is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria.

Multiple transcript variants encoding different isoforms have been found for this gene, and read-through

transcripts are expressed from the upstream locus that include exons from this gene. (provided by RefSeq, Jun

2009)

GeneCards Summary for CPT1B Gene:

CPT1B (carnitine palmitoyltransferase 1B (muscle)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with CPT1B include visceral steatosis, and hypersomnia, and among its related super-pathways are Fatty Acid Beta Oxidation and Metabolic pathways. GO annotations related to this gene include carnitine O-palmitoyltransferase activity. An important paralog of this gene is CROT.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.2 NT_011526.7

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CPT1B gene promoter:
PPAR-gamma1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CPT1B promoter sequence

Search SABiosciences Chromatin IP Primers for CPT1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPT1B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33 Ensembl cytogenetic band: 22q13.33 HGNC cytogenetic band: 22q13.33

CPT1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPT1B gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M051008: view genomic region (about GC identifiers)

Start:	51,007,290 bp from pter	End:	51,017,899 bp from pter
Size:	10,610 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CPT1B_HUMAN, Q92523 (See protein sequence)

Recommended Name: Carnitine O-palmitoyltransferase 1, muscle isoform

Size: 772 amino acids; 87801 Da

Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein

Miscellaneous: This protein is produced by a bicistronic gene which also produces the CHKB protein from a

non-overlapping reading frame

Sequence caution: Sequence=BAB33340.1; Type=Erroneous initiation;

Secondary accessions: B7Z4U4 B7Z5T8 E9PCP2 Q13389 Q99655 Q9BY90

Alternative splicing: 4 isoforms: Q92523-1 Q92523-2 Q92523-3 Q92523-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CPT1B: NX_Q92523

Explore proteomics data for CPT1B at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q92523

4/19 DME Specific Peptides for CPT1B (Q92523) (see all 19)

EVLSEPW

VYHKGRF

RWFDKSF

SSSETNA

CPT1B Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (7 alternative transcripts):

NP_001138606.1 NP_001138607.1 NP_001138608.1 NP_001138609.1 NP_004368.1 NP_689451.1 NP_689452.1

ENSEMBL proteins:

ENSP00000385486 ENSP00000312189 ENSP00000379011 ENSP00000396408 ENSP00000406316

ENSP00000353945 ENSP00000409342 ENSP00000414713 ENSP00000410966

Reactome Protein details: Q92523
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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	TAS	10408760
GO:0005741	mitochondrial outer membrane	TAS	--
GO:0016021	integral to membrane	IEA	--
GO:0043231	intracellular membrane-bounded organelle	--	--

CPT1B for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

1 InterPro protein domain:

IPR000542 Carn_acyl_trans

Graphical View of Domain Structure for InterPro Entry Q92523

ProtoNet protein and cluster: Q92523

1 Blocks protein domain: IPB000542 Acyltransferase ChoActase/COT/CPT

UniProtKB/Swiss-Prot: CPT1B_HUMAN, Q92523

Similarity: Belongs to the carnitine/choline acetyltransferase family

CPT1B for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CPT1B_HUMAN, Q92523

Catalytic activity: Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine

Genatlas biochemistry entry for CPT1B:

carnitine palmitoyl transferase of the outer mitochondrial membrane 1B,88kDa,malonyl CoA sensitive,muscle

isoform,generating palmitoylcarnitine and CoAsH (palmitoyl-CoA shuttle system)

Enzyme Numbers (IUBMB): EC 2.3.1.21¹ ² EC 2.3.1²

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004095	carnitine O-palmitoyltransferase activity	IEA	--
GO:0005515	protein binding	--	--
GO:0016746	transferase activity, transferring acyl groups	--	--

CPT1B for ontologies About GeneDecksing

Phenotypes:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cpt1b):

homeostasis/metabolism

mortality/aging

CPT1B for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Cpt1b^tm1You for CPT1B

inGenious Targeting Laboratory - Custom generated mouse model solutions for CPT1B

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT1B

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CPT1B About (see all 13)

See pathways by source

SuperPath

Contained pathways About

Fatty Acid Beta Oxidation

Fatty Acid Beta Oxidation

0.35

Fatty acid degradation

0.32

Metabolism

Metabolism

0.40

Metabolism of lipids and lipoproteins

0.34

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

Fatty acid, triacylglycerol, and ketone body metabolism

0.52

Development Leptin signaling via PI3K-dependent pathway

Development Leptin signaling via PI3K-dependent pathway

1.00

Synthesis of PE

phosphatidylethanolamine biosynthesis II

0.38

Pathways by source See SuperPaths
Show all pathways

2 EMD Millipore Pathways for CPT1B

	Development Leptin signaling via PI3K-dependent pathway
	Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CPT1B

AMPK Enzyme Complex Pathway

2 GeneGo (Thomson Reuters) Pathways for CPT1B

	Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
	Development Leptin signaling via PI3K-dependent pathway

5 BioSystems Pathways for CPT1B

	AMPK signaling
	Fatty Acid Beta Oxidation
	FOXA2 and FOXA3 transcription factor networks
	phosphatidylcholine biosynthesis I
	phosphatidylethanolamine biosynthesis II

4 Reactome Pathways for CPT1B

	Import of palmitoyl-CoA into the mitochondrial matrix
	Metabolism
	Fatty acid, triacylglycerol, and ketone body metabolism
	Metabolism of lipids and lipoproteins

3 Kegg Pathways (Kegg details for CPT1B):

	Fatty acid degradation
	PPAR signaling pathway
	Adipocytokine signaling pathway

UniProtKB/Swiss-Prot: CPT1B_HUMAN, Q92523

Pathway: Lipid metabolism; fatty acid beta-oxidation

CPT1B for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CPT1B

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/17 Interacting proteins for CPT1B (ENSP00000312189⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACADL	ENSP00000233710⁴	STRING: ENSP00000233710
ACADM	ENSP00000409612⁴	STRING: ENSP00000409612
ACADVL	ENSP00000325395⁴	STRING: ENSP00000325395
ACOX1	ENSP00000293217⁴	STRING: ENSP00000293217
ACOX3	ENSP00000348775⁴	STRING: ENSP00000348775

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006635	fatty acid beta-oxidation	IEA	--
GO:0006853	carnitine shuttle	TAS	--
GO:0015909	long-chain fatty acid transport	--	--
GO:0044255	cellular lipid metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

CPT1B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CPT1B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CPT1B

10/132 HMDB Compounds for CPT1B (see all 132) About this table

Compound	Synonyms	CAS #	PubMed Ids
Arachidic acid	Arachate (see all 10)	506-30-9	--
Arachidonic acid	5,8,11,14-Eicosatetraenoic acid (see all 16)	506-32-1	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--
Glycerol	1,2,3-Trihydroxypropane (see all 22)	56-81-5	--
Heptadecanoic acid	Heptadecanoate (see all 16)	506-12-7	--
Heptadecanoyl CoA	Heptadecanoyl coenzyme A (see all 19)	3546-17-6	--
L-Carnitine	(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)	541-15-1	--
L-Palmitoylcarnitine	Palmitoyl d-carnitine (see all 16)	2364-67-2	--
Myristic acid	1-Tridecanecarboxylate (see all 15)	544-63-8	--
Palmitic acid	Hexaectylic acid (see all 45)	57-10-3	--

10/11 Novoseek inferred chemical compound relationships for CPT1B gene (see all 11) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
carnitine	90.2	52	8830050 (3), 9473275 (2), 14711372 (2), 15070941 (2) (see all 34)
malonyl-coa	74.6	4	16230690 (3), 10329463 (1)
etomoxir	71.1	2	11866664 (1), 7557264 (1)
acyl-coa	66.1	6	15070941 (2), 11866664 (1), 15885896 (1), 19763017 (1)
fatty acid	62.9	10	11095470 (1), 8589632 (1), 9678254 (1), 16230690 (1) (see all 9)
palmitate	48.4	2	16204336 (1)
acetyl-coa	33.7	2	15070941 (2)
lipid	23	3	16230690 (1), 16870954 (1), 15070941 (1)
pyruvate	14.7	1	12606505 (1)
glucose	12.9	3	11095470 (1), 16538490 (1)

Search CenterWatch for drugs/clinical trials and news about CPT1B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CPT1B gene (8 alternative transcripts):

NM_001145134.1 NM_001145135.1 NM_001145136.1 NM_001145137.1 NM_004377.3 NM_152245.2 NM_152246.2 NM_152247.1

Unigene Cluster for CPT1B:

Carnitine palmitoyltransferase 1B (muscle)

Hs.439777 [show with all ESTs]

Unigene Representative Sequence: NR_027928

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000405237(uc003bmk.4) ENST00000312108(uc003bml.3) ENST00000395650

ENST00000497224 ENST00000475238 ENST00000423069 ENST00000479886 ENST00000476790

ENST00000460853 ENST00000461117 ENST00000417176 ENST00000360719(uc003bmm.3 uc003bmo.3 uc003bmn.3)

ENST00000457250(uc011asa.2) ENST00000440709(uc011asb.2) ENST00000434492

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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Additional mRNA sequence:

AK223174.1 AK291316.1 AK297866.1 AK299395.1 BC142954.1 D87812.1 NR_027928.2 U62733.1

U66828.1 Y08682.1 Y08683.1

23 DOTS entries:

DT.95144560 DT.86846692 DT.120661728 DT.95222983 DT.95144497 DT.75176833 DT.95111845 DT.95239121

DT.99958325 DT.120661716 DT.91751308 DT.91978213 DT.92056731 DT.100030060 DT.102835431 DT.120661768

DT.95068666 DT.120661765 DT.120661781 DT.75165249 DT.100662643 DT.120661774 DT.120661788

24/312 AceView cDNA sequences (see all 312):

BC056404 U66828 BU784008 BI826025 BG423657 CB306606 BM854694 CD368624

BQ637300 Y08682 NM_152246 AB029886 CR619131 BG775203 CR592308 CR601717

CR607964 CR600292 BC082263 NM_152245 W32105 BU615917 AI375206 AB051457

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CPT1B expression in normal human tissues (normalized intensities) CPT1B embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGGGACTTGT

About this image

CPT1B expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/3 selected tissues (see all 3) fully expand


Heart (Cardiovascular System) fully expand to see all 2 entries
heart/ventricle

Adipose (Muscoskeletal System) fully expand to see all 2 entries
Thoracic Perivascular Adipose

Blood (Cardiovascular System)
mouse/organ system/cardiovascular system

See CPT1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CPT1B

SOURCE GeneReport for Unigene cluster: Hs.439777

UniProtKB/Swiss-Prot: CPT1B_HUMAN, Q92523

Tissue specificity: Strong expression in heart and skeletal muscle. No expression in liver and kidney

SABiosciences Expression via Pathway-Focused PCR Arrays including CPT1B:

Fatty Acid Metabolism in human mouse rat

Mitochondria in human mouse rat

PPAR Targets in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for CPT1B gene from 6/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cpt1b^{1 , 5}	carnitine palmitoyltransferase 1b, muscle^{1, 5}	85.66(n)¹ 87.05(a)¹		15 (44.89 cM)⁵ 12895¹ NM_009948.2¹ NP_034078.2¹ 89416405⁵
lizard (Anolis carolinensis)	Reptilia	CPT1B⁶	Uncharacterized protein	67(a)	1 ↔ 1	GL343799.1(5780-62667)
zebrafish (Danio rerio)	Actinopterygii	Dr.12241²	Transcribed sequence with weak similarity to protein more	72.56(n)		CF347409.1
fruit fly (Drosophila melanogaster)	Insecta	CPTI³	carnitine O-palmitoyltransferase	50(a)		--
worm (Caenorhabditis elegans)	Secernentea	Y46G5A.17³	--	45(a) (best of 5)		II(12788488-12796026) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CKI1(YLR133W)⁴	Choline kinase, catalyzing the first step in phosphatidylcholine more	--		12(408445-410193) 850824 NP_013234.1

ENSEMBL Gene Tree for CPT1B (if available)
TreeFam Gene Tree for CPT1B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CPT1B gene

CROT² CPT1C² CRAT² CPT1A² CHAT²

5 SIMAP similar genes for CPT1B using alignment to 6 protein entries: CPT1B_HUMAN (see all proteins):

CPT1A CPT1C ChAT CRAT CHAT

CPT1B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139337956^1,2	C	--	34949800(+)	`AGCCTA/GGCCAA`	7	--	ds500¹		0	--	--	--	--
rs144089913^1,2	C	--	34949851(+)	`GCCGGA/GCGTGA`	7	--	ds500¹		0	--	--	--	--
rs146522575^1,2		--	34949852(+)	`CCGGGC/TGTGAT`	7	--	ds500¹		0	--	--	--	--
rs184511364^1,2		--	34949860(+)	`GATGGC/TGGGCG`	7	--	ds500¹		0	--	--	--	--
rs148683471^1,2	C	--	34949905(+)	`AGAATC/TGCTTG`	7	--	ds500¹		0	--	--	--	--
rs188516526^1,2		--	34949908(+)	`ATCGCC/TTGAAC`	7	--	ds500¹		0	--	--	--	--
rs142275043^1,2		--	34949987(+)	`ACTCCA/GCCTTA`	7	--	ds500¹		0	--	--	--	--
rs5770905^1,2	C,F,A,H	--	34949991(+)	`CGCCTC/TAAAAA`	7	--	ds500¹		12		NS EA WA NA CSA	783
rs181236709^1,2		--	34950089(+)	`TCCTGC/TGTGCC`	7	--	ds500¹		0	--	--	--	--
rs112972149^1,2	C,F	--	34950099(+)	`CCTCTT/CGCAGA`	7	--	ds500¹		3		CSA WA	121
rs117491620^1,2	F	--	34950181(+)	`GGGCCC/TGTGCA`	7	--	ds500¹		1		EA	120
rs184896296^1,2		--	34950360(+)	`GCCTAC/TGTCAC`	7	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CPT1B (51007290 - 51017899 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/15 variations for CPT1B (see all 15): About this table

Variant ID	Type	Subtype	PubMed ID
nsv914559	CNV	Loss	21882294
nsv915495	CNV	Loss	21882294
nsv914561	CNV	Loss	21882294
dgv5062n71	CNV	Loss	21882294
dgv5068n71	CNV	Loss	21882294
esv33185	CNV	Loss	17666407
nsv914525	CNV	Loss	21882294
nsv914543	CNV	Loss	21882294
nsv834239	CNV	Loss	17160897
dgv5066n71	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): CPT1B

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 601987 OMIM disorders: --

17 diseases for CPT1B: About MalaCards

visceral steatosis hypersomnia carnitine palmitoyltransferase ii deficiency status epilepticus

narcolepsy pre-eclampsia eclampsia chronic myeloid leukemia

chronic lymphocytic leukemia essential hypertension obesity insulin resistance

hypertension myeloid leukemia leukemia alzheimer's disease

colorectal cancer

CPT1B for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

2 Novoseek inferred disease relationships for CPT1B gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
carnitine palmitoyltransferase i deficiency	86.4	3	17160614 (2), 8482285 (1)
obesity	16.6	1	17089095 (1)

Genetic Association Database (GAD): CPT1B
Human Genome Epidemiology (HuGE) Navigator: CPT1B (14 documents)

Export disorders for CPT1B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CPT1B gene, integrated from 9 sources (see all 81):
(articles sorted by number of sources associating them with CPT1B)

Utopia: connect your pdf to the dynamic
world of online information

Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B). (PubMed id 9070950)^{1, 2, 3, 9} Britton C.H....McGarry J.D. (1997)
Association of the CPT1B gene with skeletal muscle fa t infiltration in Afro-Caribbean men. (PubMed id 19553926)^{1, 4, 9} Miljkovic I....Zmuda J.M. (2009)
Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians. (PubMed id 17089095)^{1, 4, 9} Robitaille J....Vohl M.C. (2007)
Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. (PubMed id 9224698)^{1, 2, 9} Yamazaki N....Terada H. (1997)
Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I. (PubMed id 9199240)^{1, 2, 9} van der Leij F.R....Kuipers J.R.G. (1997)
Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)^{1, 2, 9} Hirosawa M....Ohara O. (2001)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (2010)
Polymorphism located between CPT1B and CHKB, and HLA- DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essent ial hypersomnia). (PubMed id 19404393)^{1, 4} Miyagawa T....Tokunaga K. (2009)
Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)^{1, 4} RuaA+o G....Hanks S. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1375	HGNC: 2329	AceView: CPT1B	Ensembl:ENSG00000205560	euGenes: HUgn1375
ECgene: CPT1B	Kegg: 1375	H-InvDB: CPT1B

(According to HUGE)
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HUGE: KIAA1670

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CPT1B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CPT1B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CPT1B gene:
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GeneCards and IP:
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CPT1B Gene

Carnitine Palmitoyltransferase 1B (Muscle)

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CPT1B Gene

Carnitine Palmitoyltransferase 1B (Muscle)

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