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Protein

Acetolactate synthase-like protein

Gene

ILVBL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Chemistry databases

SwissLipidsiSLP:000001821

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
MIMi605770 gene
neXtProtiNX_A1L0T0

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, 59 interactors
IntActiA1L0T0, 21 interactors
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

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: May 23, 2018
This is version 102 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

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