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Protein

Acetolactate synthase-like protein

Gene

ILVBL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Cofactori

Protein has several cofactor binding sites:
  • Mg2+By similarityNote: Binds 1 Mg2+ ion per subunit.By similarity
  • thiamine diphosphateBy similarityNote: Binds 1 thiamine pyrophosphate per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei98Thiamine pyrophosphateBy similarity1
Metal bindingi521MagnesiumBy similarity1
Metal bindingi547MagnesiumBy similarity1

GO - Molecular functioni

Keywordsi

Molecular functionTransferase
LigandMagnesium, Metal-binding, Thiamine pyrophosphate

Names & Taxonomyi

Protein namesi
Recommended name:
Acetolactate synthase-like protein (EC:2.2.1.-)
Alternative name(s):
IlvB-like protein
Gene namesi
Name:ILVBL
Synonyms:AHAS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105135.15.
HGNCiHGNC:6041. ILVBL.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei13 – 33HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000105135.
PharmGKBiPA29857.

Polymorphism and mutation databases

BioMutaiILVBL.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148251 – 632Acetolactate synthase-like proteinAdd BLAST632

Proteomic databases

EPDiA1L0T0.
MaxQBiA1L0T0.
PaxDbiA1L0T0.
PRIDEiA1L0T0.
TopDownProteomicsiA1L0T0.

PTM databases

iPTMnetiA1L0T0.
PhosphoSitePlusiA1L0T0.
SwissPalmiA1L0T0.

Expressioni

Tissue specificityi

Expressed in all tissues tested, with highest expression in heart, pancreas and placenta.1 Publication

Gene expression databases

BgeeiENSG00000105135.
CleanExiHS_ILVBL.
ExpressionAtlasiA1L0T0. baseline and differential.
GenevisibleiA1L0T0. HS.

Organism-specific databases

HPAiHPA067682.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP76Q8TAP63EBI-720553,EBI-742887

Protein-protein interaction databases

BioGridi116190. 58 interactors.
IntActiA1L0T0. 20 interactors.
MINTiMINT-1417151.
STRINGi9606.ENSP00000263383.

Structurei

3D structure databases

ProteinModelPortaliA1L0T0.
SMRiA1L0T0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni470 – 550Thiamine pyrophosphate bindingBy similarityAdd BLAST81

Sequence similaritiesi

Belongs to the TPP enzyme family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1185. Eukaryota.
COG0028. LUCA.
GeneTreeiENSGT00530000063412.
HOGENOMiHOG000010642.
HOVERGENiHBG108004.
InParanoidiA1L0T0.
KOiK11259.
OMAiFRPLCKF.
OrthoDBiEOG091G057K.
PhylomeDBiA1L0T0.
TreeFamiTF354221.

Family and domain databases

Gene3Di3.40.50.1220. 1 hit.
InterProiView protein in InterPro
IPR029035. DHS-like_NAD/FAD-binding_dom.
IPR029061. THDP-binding.
IPR012000. Thiamin_PyroP_enz_cen_dom.
IPR012001. Thiamin_PyroP_enz_TPP-bd_dom.
IPR000399. TPP-bd_CS.
IPR011766. TPP_enzyme-bd_C.
PfamiView protein in Pfam
PF02775. TPP_enzyme_C. 1 hit.
PF00205. TPP_enzyme_M. 1 hit.
PF02776. TPP_enzyme_N. 1 hit.
SUPFAMiSSF52467. SSF52467. 2 hits.
SSF52518. SSF52518. 2 hits.
PROSITEiView protein in PROSITE
PS00187. TPP_ENZYMES. 1 hit.

Sequencei

Sequence statusi: Complete.

A1L0T0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
METPAAAAPA GSLFPSFLLL ACGTLVAALL GAAHRLGLFY QLLHKVDKAS
60 70 80 90 100
VRHGGENVAA VLRAHGVRFI FTLVGGHISP LLVACEKLGI RVVDTRHEVT
110 120 130 140 150
AVFAADAMAR LSGTVGVAAV TAGPGLTNTV TAVKNAQMAQ SPILLLGGAA
160 170 180 190 200
STLLQNRGAL QAVDQLSLFR PLCKFCVSVR RVRDIVPTLR AAMAAAQSGT
210 220 230 240 250
PGPVFVELPV DVLYPYFMVQ KEMVPAKPPK GLVGRVVSWY LENYLANLFA
260 270 280 290 300
GAWEPQPEGP LPLDIPQASP QQVQRCVEIL SRAKRPLMVL GSQALLTPTS
310 320 330 340 350
ADKLRAAVET LGVPCFLGGM ARGLLGRNHP LHIRENRSAA LKKADVIVLA
360 370 380 390 400
GTVCDFRLSY GRVLSHSSKI IIVNRNREEM LLNSDIFWKP QEAVQGDVGS
410 420 430 440 450
FVLKLVEGLQ GQTWAPDWVE ELREADRQKE QTFREKAAMP VAQHLNPVQV
460 470 480 490 500
LQLVEETLPD NSILVVDGGD FVGTAAHLVQ PRGPLRWLDP GAFGTLGVGA
510 520 530 540 550
GFALGAKLCR PDAEVWCLFG DGAFGYSLIE FDTFVRHKIP VMALVGNDAG
560 570 580 590 600
WTQISREQVP SLGSNVACGL AYTDYHKAAM GLGARGLLLS RENEDQVVKV
610 620 630
LHDAQQQCRD GHPVVVNILI GRTDFRDGSI AV
Length:632
Mass (Da):67,868
Last modified:January 15, 2008 - v2
Checksum:i893F539FC5F1B2EC
GO

Sequence cautioni

The sequence AAC18916 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAH00109 differs from that shown. Aberrant splicing.Curated
The sequence AAI26914 differs from that shown. Sequence of unknown origin at the C-terminus.Curated
The sequence AAI26914 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038064374N → D1 PublicationCorresponds to variant dbSNP:rs17856373Ensembl.1
Natural variantiVAR_061901510R → Q. Corresponds to variant dbSNP:rs35548653Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U61263 mRNA. Translation: AAC50934.1.
AC003956 Genomic DNA. Translation: AAB94632.1.
AC004794 Genomic DNA. Translation: AAC18916.1. Sequence problems.
CH471106 Genomic DNA. Translation: EAW84464.1.
BC000109 mRNA. Translation: AAH00109.1. Sequence problems.
BC011722 mRNA. Translation: AAH11722.1.
BC011761 mRNA. Translation: AAH11761.1.
BC126913 mRNA. Translation: AAI26914.1. Sequence problems.
CCDSiCCDS12325.1.
RefSeqiNP_006835.2. NM_006844.4.
XP_005259774.1. XM_005259717.4.
UniGeneiHs.78880.

Genome annotation databases

EnsembliENST00000263383; ENSP00000263383; ENSG00000105135.
GeneIDi10994.
KEGGihsa:10994.
UCSCiuc002nam.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiILVBL_HUMAN
AccessioniPrimary (citable) accession number: A1L0T0
Secondary accession number(s): O43341
, Q96F08, Q99651, Q9BWN5, Q9UEB2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: September 27, 2017
This is version 99 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families