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CLYBL citrate lyase beta like [ Homo sapiens (human) ]

Gene ID: 171425, updated on 12-Oct-2019

Summary

Official Symbol
CLYBLprovided by HGNC
Official Full Name
citrate lyase beta likeprovided by HGNC
Primary source
HGNC:HGNC:18355
See related
Ensembl:ENSG00000125246 MIM:609686
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLB
Expression
Broad expression in kidney (RPKM 2.9), liver (RPKM 2.6) and 22 other tissues See more
Orthologs

Genomic context

See CLYBL in Genome Data Viewer
Location:
13q32.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (99606664..99909444)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (100258919..100549388)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1039 Neighboring gene uncharacterized LOC105370332 Neighboring gene Sharpr-MPRA regulatory region 5963 Neighboring gene cofilin 1 pseudogene 8 Neighboring gene microRNA 4306 Neighboring gene CLYBL antisense RNA 2 Neighboring gene uncharacterized LOC101927437 Neighboring gene CLYBL antisense RNA 1 Neighboring gene Zic family member 2 polyalanine repeat instability region Neighboring gene Zic family member 5 Neighboring gene Zic family member 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
NHGRI GWA Catalog
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
(3S)-citramalyl-CoA lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
(3S)-citramalyl-CoA lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
malate synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
protein homotrimerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cobalamin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cobalamin metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
citramalyl-CoA lyase, mitochondrial
Names
(3S)-malyl-CoA thioesterase
beta-methylmalate synthase
citrate lyase subunit beta-like protein, mitochondrial
malate synthase
NP_996531.1

NCBI Reference Sequences (RefSeq)

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_206808.3NP_996531.1  citramalyl-CoA lyase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_996531.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
    Source sequence(s)
    AF428253, AL137139, AL139035, BP313488
    Consensus CDS
    CCDS32002.1
    UniProtKB/Swiss-Prot
    Q8N0X4
    Related
    ENSP00000342991.4, ENST00000339105.8
    Conserved Domains (1) summary
    COG2301
    Location:47337
    CitE; Citrate lyase beta subunit [Carbohydrate transport and metabolism]

RNA

  1. NR_104592.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon and contains two additional 3' terminal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF428253, AK095506, AL137139, AL139035

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    99606664..99909444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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