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CPT1C carnitine palmitoyltransferase 1C [ Homo sapiens (human) ]

Gene ID: 126129, updated on 7-Aug-2014
Official Symbol
CPT1Cprovided by HGNC
Official Full Name
carnitine palmitoyltransferase 1Cprovided by HGNC
Primary source
HGNC:18540
See related
Ensembl:ENSG00000169169; HPRD:12315; MIM:608846; Vega:OTTHUMG00000183267
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CATL1; CPT1P; CPTIC; CPT1-B; CPTI-B
Summary
This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
See CPT1C in Epigenomics, MapViewer
Location:
19q13.33
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (49691106..49713731)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50194363..50216988)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein arginine methyltransferase 1 Neighboring gene microRNA 5088 Neighboring gene adrenomedullin 5 (putative) Neighboring gene ribosomal protein S9 pseudogene 4 Neighboring gene testis-specific serine kinase substrate

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 envelope glycoprotein (gp160) contains two palmitoylated cysteine residues C764 and C837; removal of both palmitoylation sites results in the formation of virus with low levels of gp160 incorporation, as well as a decrease in viral infectivity PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ23809

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carnitine O-palmitoyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carnitine metabolic process IEA
Inferred from Electronic Annotation
more info
 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
carnitine O-palmitoyltransferase 1, brain isoform
Names
carnitine O-palmitoyltransferase 1, brain isoform
carnitine palmitoyltransferase I related C
carnitine O-palmitoyltransferase I, brain isoform
NP_001129524.1
NP_001186681.1
NP_001186682.1
NP_689572.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001136052.2NP_001129524.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 1

    See proteins identical to NP_001129524.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 3. This results in a shorter protein (isoform 1), compared to isoform 2.
    Source sequence(s)
    BC029104, BP194020
    Consensus CDS
    CCDS46147.1
    UniProtKB/Swiss-Prot
    Q8TCG5
    Related
    ENSP00000384465, OTTHUMP00000271280, ENST00000405931, OTTHUMT00000465875
    Conserved Domains (1) summary
    pfam00755
    Location:170749
    Blast Score: 1620
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. NM_001199752.2NP_001186681.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See proteins identical to NP_001186681.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (2). Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AK074389, AK096516, AK289713, BP194020
    Consensus CDS
    CCDS12779.1
    UniProtKB/TrEMBL
    B3KU49
    UniProtKB/Swiss-Prot
    Q8TCG5
    Related
    ENSP00000376303, OTTHUMP00000271278, ENST00000392518, OTTHUMT00000465873
    Conserved Domains (1) summary
    pfam00755
    Location:170760
    Blast Score: 1639
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  3. NM_001199753.1NP_001186682.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See proteins identical to NP_001186682.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AF357970, AK290092, BP194020
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TCG5
    Related
    ENSP00000473028, OTTHUMP00000271279, ENST00000598293, OTTHUMT00000465874
    Conserved Domains (1) summary
    pfam00755
    Location:170760
    Blast Score: 1639
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  4. NM_152359.2NP_689572.1  carnitine O-palmitoyltransferase 1, brain isoform isoform 2

    See proteins identical to NP_689572.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AF357970, BP194020
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    Q8TCG5
    Related
    ENSP00000319343, OTTHUMP00000271276, ENST00000323446, OTTHUMT00000465870
    Conserved Domains (1) summary
    pfam00755
    Location:170760
    Blast Score: 1639
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RNA

  1. NR_108072.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate exon and an additional exon in the 5' region, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK096516, BC029104, BP194020, DB456457

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    49691106..49713731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258507.1XP_005258564.1  

    Related
    ENSP00000346138, ENST00000354199
    Conserved Domains (1) summary
    pfam00755
    Location:170709
    Blast Score: 1455
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. XM_006723010.1XP_006723073.1  

    Conserved Domains (1) summary
    pfam00755
    Location:170622
    Blast Score: 1320
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  3. XM_005258505.2XP_005258562.1  

    See proteins identical to XP_005258562.1

    UniProtKB/Swiss-Prot
    Q8TCG5
    Conserved Domains (1) summary
    pfam00755
    Location:170760
    Blast Score: 1639
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  4. XM_005258506.2XP_005258563.1  

    See proteins identical to XP_005258563.1

    UniProtKB/Swiss-Prot
    Q8TCG5
    Conserved Domains (1) summary
    pfam00755
    Location:170760
    Blast Score: 1639
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  5. XM_006723009.1XP_006723072.1  

    Conserved Domains (1) summary
    pfam00755
    Location:8631
    Blast Score: 1602
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    46571009..46594220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    50196164..50218780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)