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

Gene ID: 10994, updated on 7-Oct-2018

Summary

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; Vega:OTTHUMG00000165630
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; 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

Genomic context

See ILVBL in Genome Data Viewer
Location:
19p13.12
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (15114974..15125799, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15225785..15236610, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene caspase 14 Neighboring gene olfactory receptor family 1 subfamily I member 1 Neighboring gene synapse defective Rho GTPase homolog 1 Neighboring gene RNA, U6 small nuclear 782, pseudogene Neighboring gene olfactory receptor family 10 subfamily B member 1 pseudogene

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 Jun 15 11:32:44 2016

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1269, MGC19535

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiamine pyrophosphate binding IEA
Inferred from Electronic Annotation
more info
 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
acetolactate synthase-like protein
Names
2-hydroxyacyl-CoA lyase 1 like
acetolactate synthase homolog
ilvB (bacterial acetolactate synthase)-like
ilvB-like protein
NP_006835.2
XP_005259774.1
XP_011525953.1
XP_024307098.1

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_006844.4NP_006835.2  acetolactate synthase-like protein

    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
    Related
    ENSP00000263383.3, OTTHUMP00000230512, ENST00000263383.7, OTTHUMT00000385439
    Conserved Domains (1) summary
    cl28198
    Location:53619
    IlvB; Acetolactate synthase large subunit or other thiamine pyrophosphate-requiring enzyme [Amino acid transport and metabolism, Coenzyme transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    15114974..15125799 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451330.1XP_024307098.1  acetolactate synthase-like protein isoform X1

    Conserved Domains (1) summary
    cl28198
    Location:53648
    IlvB; Acetolactate synthase large subunit or other thiamine pyrophosphate-requiring enzyme [Amino acid transport and metabolism, Coenzyme transport and metabolism]
  2. XM_005259717.4XP_005259774.1  acetolactate synthase-like protein isoform X2

    See identical proteins and their annotated locations for XP_005259774.1

    UniProtKB/Swiss-Prot
    A1L0T0
    Conserved Domains (1) summary
    cl28198
    Location:53619
    IlvB; Acetolactate synthase large subunit or other thiamine pyrophosphate-requiring enzyme [Amino acid transport and metabolism, Coenzyme transport and metabolism]
  3. XM_011527651.2XP_011525953.1  acetolactate synthase-like protein isoform X3

    UniProtKB/TrEMBL
    M0R026
    Related
    ENSP00000470942.1, OTTHUMP00000271182, ENST00000534378.5, OTTHUMT00000385440
    Conserved Domains (4) summary
    cd07035
    Location:2103
    TPP_PYR_POX_like; Pyrimidine (PYR) binding domain of POX and related proteins
    COG0028
    Location:1513
    IlvB; Acetolactate synthase large subunit or other thiamine pyrophosphate-requiring enzyme [Amino acid transport and metabolism, Coenzyme transport and metabolism]
    cd02004
    Location:340513
    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:166298
    TPP_enzyme_M; Thiamine pyrophosphate enzyme, central domain

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.
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