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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
    mouse all
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    Genomic context

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    See ILVBL in Genome Data Viewer
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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