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ILVBL ilvB acetolactate synthase like [ Homo sapiens (human) ]

Gene ID: 10994, updated on 7-Apr-2024

Summary

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Official Symbol
ILVBLprovided by HGNC
Official Full Name
ilvB acetolactate synthase likeprovided by HGNC
Primary source
HGNC:HGNC:6041
See related
Ensembl:ENSG00000105135 MIM:605770; AllianceGenome:HGNC:6041
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
AHAS; 209L8; HACL2; ILV2H; HACL1L
Summary
The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 24.2), thyroid (RPKM 18.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.12
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (15114987..15125786, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (15239931..15250730, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15225798..15236597, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily I member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15219898-15220448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15222723-15223250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15223251-15223776 Neighboring gene synapse defective Rho GTPase homolog 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15235337-15236102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15236103-15236866 Neighboring gene ILVBL antisense RNA 1 Neighboring gene olfactory receptor family 10 subfamily B member 1 pseudogene Neighboring gene RNA, U6 small nuclear 782, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma. Chang HS, et al. BMC Pulm Med, 2017 Dec 16. PMID 29246216, Free PMC Article
  2. A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region. Joutel A, et al. Genomics, 1996 Dec 1. PMID 8954801
  3. Phytosphingosine degradation pathway includes fatty acid α-oxidation reactions in the endoplasmic reticulum. Kitamura T, et al. Proc Natl Acad Sci U S A, 2017 Mar 28. PMID 28289220, Free PMC Article
  4. Regulation of membrane fluidity by RNF145-triggered degradation of the lipid hydrolase ADIPOR2. Volkmar N, et al. EMBO J, 2022 Oct 4. PMID 35993436, Free PMC Article
  5. Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. Hietamäki J, et al. J Clin Endocrinol Metab, 2020 Jun 1. PMID 32060556, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC1269, MGC19535

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetolactate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables thiamine pyrophosphate binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in fatty acid alpha-oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in isoleucine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in valine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of acetolactate synthase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 

General protein information

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Preferred Names
2-hydroxyacyl-CoA lyase 2
Names
2-hydroxyacyl-CoA lyase 1 like
acetolactate synthase homolog
acetolactate synthase-like protein
ilvB (bacterial acetolactate synthase)-like
ilvB-like protein
NP_006835.2
XP_005259774.1
XP_011525953.1
XP_054175599.1

NCBI Reference Sequences (RefSeq)

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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_006844.5 → NP_006835.2  2-hydroxyacyl-CoA lyase 2

    See identical proteins and their annotated locations for NP_006835.2

    Status: REVIEWED

    Source sequence(s)
    BC011722, BC011761, BM676342, HY011076
    Consensus CDS
    CCDS12325.1
    UniProtKB/Swiss-Prot
    A1L0T0, O43341, Q96F08, Q99651, Q9BWN5, Q9UEB2
    Related
    ENSP00000263383.3, ENST00000263383.8
    Conserved Domains (1) summary
    cl28198
    Location:53 → 619
    IlvB; Acetolactate synthase large subunit or other thiamine pyrophosphate-requiring enzyme [Amino acid transport and metabolism, Coenzyme transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    15114987..15125786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259717.5 → XP_005259774.1  2-hydroxyacyl-CoA lyase 2 isoform X1

    See identical proteins and their annotated locations for XP_005259774.1

    UniProtKB/Swiss-Prot
    A1L0T0, O43341, Q96F08, Q99651, Q9BWN5, Q9UEB2
    Conserved Domains (1) summary
    cl28198
    Location:53 → 619
    IlvB; Acetolactate synthase large subunit or other thiamine pyrophosphate-requiring enzyme [Amino acid transport and metabolism, Coenzyme transport and metabolism]

  2. XM_011527651.3 → XP_011525953.1  2-hydroxyacyl-CoA lyase 2 isoform X2

    UniProtKB/TrEMBL
    M0R026
    Related
    ENSP00000470942.1, ENST00000534378.5
    Conserved Domains (4) summary
    cd07035
    Location:2 → 103
    TPP_PYR_POX_like; Pyrimidine (PYR) binding domain of POX and related proteins
    COG0028
    Location:1 → 513
    IlvB; Acetolactate synthase large subunit or other thiamine pyrophosphate-requiring enzyme [Amino acid transport and metabolism, Coenzyme transport and metabolism]
    cd02004
    Location:340 → 513
    TPP_BZL_OCoD_HPCL; Thiamine pyrophosphate (TPP) family, BZL_OCoD_HPCL subfamily, TPP-binding module; composed of proteins similar to benzaldehyde lyase (BZL), oxalyl-CoA decarboxylase (OCoD) and 2-hydroxyphytanoyl-CoA lyase (2-HPCL). Pseudomonas fluorescens biovar I BZL ...
    pfam00205
    Location:166 → 298
    TPP_enzyme_M; Thiamine pyrophosphate enzyme, central domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    15239931..15250730 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319624.1 → XP_054175599.1  2-hydroxyacyl-CoA lyase 2 isoform X1

    UniProtKB/Swiss-Prot
    A1L0T0, O43341, Q96F08, Q99651, Q9BWN5, Q9UEB2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_176826.1: Suppressed sequence

    Description
    NM_176826.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A1L0T0.2 GenPept UniProtKB/Swiss-Prot:A1L0T0

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