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Reviewed, UniProtKB/Swiss-Prot Q92523 (CPT1B_HUMAN)

Last modified June 16, 2009. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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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=CPTI-M
      Short name=CPT I
    Carnitine palmitoyltransferase 1B
    Carnitine palmitoyltransferase I-like protein
Gene names
Name: CPT1B
Synonyms: KIAA1670
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length772 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

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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.

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Alternative products

This entry describes 2 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.

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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 – 7326 Potential
Topological domain74 – 10229Mitochondrial intermembrane Potential
Transmembrane103 – 12220 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 sequence5811D → G in isoform 2.
VSP_034246
Alternative sequence582 – 772191Missing in isoform 2.
VSP_034247
Natural variant661I → V: dbSNP rs3213445.
VAR_020029
Natural variant3201G → D: dbSNP rs2269383.
VAR_021854
Natural variant4271S → C: dbSNP rs8142477.
VAR_024188
Natural variant5311E → K: dbSNP rs470117. Ref.6
VAR_011739
Natural variant6641S → Y: dbSNP rs1804702.
VAR_011740

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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.

Checksum: 3814222A5BDBF724
Show »

FASTA58166,384

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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: 8679700] [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: 9344464] [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: 9070950] [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: 9199240] [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: 9224698] [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: 11258795] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-531.
[7]"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: 10591208] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

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Cross-references

Sequence databases

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.
U62317 Genomic DNA. Translation: AAB03343.1.
IPIIPI00640400.
IPI00877658.
PIRG02860.
RefSeqNP_001138607.1.
NP_001138609.1.
NP_004368.1.
NP_689451.1.
NP_689452.1.
NP_689453.1.
NP_689466.1.
UniGeneHs.439777
Hs.654827

3D structure databases

HSSPHSSP built from PDB template 1NM8 based on UniProtKB P43155.
ModBaseSearch...

PTM databases

PhosphoSiteQ92523.

Proteomic databases

PRIDEQ92523.

Genome annotation databases

EnsemblENSG00000205560. Homo sapiens. [Contig view]
GeneID1120.
1375.
KEGGhsa:1375.

Organism-specific databases

GeneCardsGC22M049354.
GC22M049355.
HGNCHGNC:2329. CPT1B.
MIM601987. gene.
PharmGKBPA26848.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ92523.
HOVERGENQ92523.
OMAQ92523. FQIRMFD.

Enzyme and pathway databases

BRENDA2.3.1.21. 247.
Pathway_Interaction_DBhnf3bpathway. FOXA2 and FOXA3 transcription factor networks.
ReactomeREACT_1505. Integration of energy metabolism.
REACT_602. Lipid and lipoprotein metabolism.

Gene expression databases

BgeeQ92523.
CleanExHS_CPT1B.
GermOnlineENSG00000100288. Homo sapiens.

Family and domain databases

InterProIPR000542. Carn_acyl_trans.
[Graphical view]
PANTHERPTHR22589. Carn_acyl_trans. 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 Resources

NextBio4648.
SOURCESearch...

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Entry information

Entry nameCPT1B_HUMAN
AccessionPrimary (citable) accession number: Q92523
Secondary accession number(s): Q13389, Q99655, Q9BY90
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: June 16, 2009
This is version 82 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 22

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents