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Q92523 (CPT1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Carnitine O-palmitoyltransferase 1, muscle isoform

Short name=CPT1-M
EC=2.3.1.21
Alternative name(s):
Carnitine O-palmitoyltransferase I, muscle isoform
Short name=CPT I
Short name=CPTI-M
Carnitine palmitoyltransferase 1B
Carnitine palmitoyltransferase I-like protein
Gene names
Name:CPT1B
Synonyms:KIAA1670
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length772 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Catalytic activity

Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.

Pathway

Lipid metabolism; fatty acid beta-oxidation.

Subcellular location

Mitochondrion outer membrane; Multi-pass membrane protein.

Tissue specificity

Strong expression in heart and skeletal muscle. No expression in liver and kidney.

Miscellaneous

This protein is produced by a bicistronic gene which also produces the CHKB protein from a non-overlapping reading frame.

Sequence similarities

Belongs to the carnitine/choline acetyltransferase family.

Sequence caution

The sequence BAB33340.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92523-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q92523-2)

The sequence of this isoform differs from the canonical sequence as follows:
     581-581: D → G
     582-772: Missing.
Isoform 3 (identifier: Q92523-3)

The sequence of this isoform differs from the canonical sequence as follows:
     154-187: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q92523-4)

The sequence of this isoform differs from the canonical sequence as follows:
     355-435: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 772772Carnitine O-palmitoyltransferase 1, muscle isoform
PRO_0000210162

Regions

Topological domain1 – 4747Cytoplasmic Potential
Transmembrane48 – 7326Helical; Potential
Topological domain74 – 10229Mitochondrial intermembrane Potential
Transmembrane103 – 12220Helical; Potential
Topological domain123 – 772650Cytoplasmic Potential
Region555 – 56713Coenzyme A binding By similarity

Sites

Active site4731Proton acceptor By similarity
Binding site5891Carnitine By similarity
Binding site6021Carnitine By similarity

Natural variations

Alternative sequence154 – 18734Missing in isoform 3.
VSP_043184
Alternative sequence355 – 43581Missing in isoform 4.
VSP_044451
Alternative sequence5811D → G in isoform 2.
VSP_034246
Alternative sequence582 – 772191Missing in isoform 2.
VSP_034247
Natural variant661I → V.
Corresponds to variant rs3213445 [ dbSNP | Ensembl ].
VAR_020029
Natural variant3201G → D.
Corresponds to variant rs2269383 [ dbSNP | Ensembl ].
VAR_021854
Natural variant4271S → C.
Corresponds to variant rs8142477 [ dbSNP | Ensembl ].
VAR_024188
Natural variant5311E → K. Ref.6 Ref.7
Corresponds to variant rs470117 [ dbSNP | Ensembl ].
VAR_011739
Natural variant6641S → Y.
Corresponds to variant rs1804702 [ dbSNP | Ensembl ].
VAR_011740

Experimental info

Sequence conflict751C → S in BAH13024. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1997. Version 2.
Checksum: F7E3ED40643DFC81

FASTA77287,801
        10         20         30         40         50         60 
MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT 

        70         80         90        100        110        120 
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG 

       130        140        150        160        170        180 
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR 

       190        200        210        220        230        240 
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE 

       250        260        270        280        290        300 
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG 

       310        320        330        340        350        360 
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL 

       370        380        390        400        410        420 
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA 

       430        440        450        460        470        480 
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI 

       490        500        510        520        530        540 
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL 

       550        560        570        580        590        600 
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG 

       610        620        630        640        650        660 
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL 

       670        680        690        700        710        720 
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY 

       730        740        750        760        770 
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS 

« Hide

Isoform 2 [UniParc].

Checksum: 3814222A5BDBF724
Show »

FASTA58166,384
Isoform 3 [UniParc].

Checksum: 24F7EAC9FFEE3D31
Show »

FASTA73883,891
Isoform 4 [UniParc].

Checksum: ED1E1029F325C8F4
Show »

FASTA69178,844

References

« Hide 'large scale' references
[1]"Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I."
Yamazaki N., Shinohara Y., Shima A., Yamanaka Y., Terada H.
Biochim. Biophys. Acta 1307:157-161(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Heart.
[2]"Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I."
Zhu H., Shi J., de Vries Y., Arvidson D.N., Cregg J.M., Woldegiorgis G.
Arch. Biochem. Biophys. 347:53-61(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B)."
Britton C.H., Mackey D.W., Esser V., Foster D.W., Burns D.K., Yarnall D.P., Froguel P., McGarry J.D.
Genomics 40:209-211(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Heart.
[4]"Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I."
van der Leij F.R., Takens J., van der Veen A.Y., Terpstra P., Kuipers J.R.G.
Biochim. Biophys. Acta 1352:123-128(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Skeletal muscle.
[5]"Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I."
Yamazaki N., Yamanaka Y., Hashimoto Y., Shinohara Y., Shima A., Terada H.
FEBS Lett. 409:401-406(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[6]"Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping."
Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O.
DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-531.
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANT LYS-531.
Tissue: Heart and Tongue.
[8]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D87812 mRNA. Translation: BAA13461.1.
U66828 mRNA. Translation: AAB40651.1.
U62733 mRNA. Translation: AAC51122.1.
Y08682 mRNA. Translation: CAA69938.1.
Y08683 mRNA. Translation: CAA69939.1.
AB003286 Genomic DNA. Translation: BAA21492.1.
AB051457 mRNA. Translation: BAB33340.1. Different initiation.
AK297866 mRNA. Translation: BAH12680.1.
AK299395 mRNA. Translation: BAH13024.1.
U62317 Genomic DNA. Translation: AAB03343.1.
PIRG02860.
RefSeqNP_001138606.1. NM_001145134.1.
NP_001138607.1. NM_001145135.1.
NP_001138608.1. NM_001145136.1.
NP_001138609.1. NM_001145137.1.
NP_004368.1. NM_004377.3.
NP_689451.1. NM_152245.2.
NP_689452.1. NM_152246.2.
UniGeneHs.439777.
Hs.609867.

3D structure databases

ProteinModelPortalQ92523.
SMRQ92523. Positions 1-42, 171-764.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000312189.

Chemistry

ChEMBLCHEMBL2216739.

PTM databases

PhosphoSiteQ92523.

Polymorphism databases

DMDM2493497.

Proteomic databases

PaxDbQ92523.
PRIDEQ92523.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312108; ENSP00000312189; ENSG00000205560. [Q92523-1]
ENST00000360719; ENSP00000353945; ENSG00000205560. [Q92523-1]
ENST00000395650; ENSP00000379011; ENSG00000205560. [Q92523-1]
ENST00000405237; ENSP00000385486; ENSG00000205560. [Q92523-1]
ENST00000440709; ENSP00000414713; ENSG00000205560. [Q92523-4]
ENST00000457250; ENSP00000409342; ENSG00000205560. [Q92523-3]
GeneID1375.
KEGGhsa:1375.
UCSCuc003bmk.4. human. [Q92523-1]
uc011asa.2. human. [Q92523-3]
uc011asb.2. human. [Q92523-4]

Organism-specific databases

CTD1375.
GeneCardsGC22M051008.
HGNCHGNC:2329. CPT1B.
HPAHPA029583.
MIM601987. gene.
neXtProtNX_Q92523.
PharmGKBPA26848.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70127.
HOGENOMHOG000233542.
HOVERGENHBG003458.
InParanoidQ92523.
KOK08765.
OMARDRGKFC.
OrthoDBEOG7J17ZQ.
PhylomeDBQ92523.
TreeFamTF313836.

Enzyme and pathway databases

BRENDA2.3.1.21. 2681.
ReactomeREACT_111217. Metabolism.
SABIO-RKQ92523.
UniPathwayUPA00659.

Gene expression databases

ArrayExpressQ92523.
BgeeQ92523.
CleanExHS_CPT1B.
GenevestigatorQ92523.

Family and domain databases

InterProIPR000542. Carn_acyl_trans.
[Graphical view]
PANTHERPTHR22589. PTHR22589. 1 hit.
PfamPF00755. Carn_acyltransf. 1 hit.
[Graphical view]
PROSITEPS00439. ACYLTRANSF_C_1. 1 hit.
PS00440. ACYLTRANSF_C_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCPT1B. human.
GenomeRNAi1375.
NextBio5575.
PROQ92523.
SOURCESearch...

Entry information

Entry nameCPT1B_HUMAN
AccessionPrimary (citable) accession number: Q92523
Secondary accession number(s): B7Z4U4 expand/collapse secondary AC list , B7Z5T8, E9PCP2, Q13389, Q99655, Q9BY90
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: March 19, 2014
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM