A1L0T0 (ILVBL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Acetolactate synthase-like protein
EC=2.2.1.-

Alternative name(s):
IlvB-like protein

Gene names

Name:	ILVBL
Synonyms:	AHAS

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	632 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Cofactor	Binds 1 magnesium ion per subunit By similarity. Binds 1 thiamine pyrophosphate per subunit By similarity.
Subcellular location	Membrane; Single-pass membrane protein.
Tissue specificity	Expressed in all tissues tested, with highest expression in heart, pancreas and placenta. Ref.1
Sequence similarities	Belongs to the TPP enzyme family.
Sequence caution	The sequence AAC18916.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence AAH00109.1 differs from that shown. Reason: Aberrant splicing. The sequence AAI26914.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAI26914.1 differs from that shown. Reason: Sequence of unknown origin at the C-terminus.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Magnesium Metal-binding Thiamine pyrophosphate
Molecular function	Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	magnesium ion binding Inferred from electronic annotation. Source: InterPro thiamine pyrophosphate binding Inferred from electronic annotation. Source: InterPro transferase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 632	632	Acetolactate synthase-like protein		PRO_0000314825
Regions
	Transmembrane	13 – 33	21	Helical; Potential
	Region	470 – 550	81	Thiamine pyrophosphate binding By similarity
Sites
	Metal binding	521	1	Magnesium By similarity
	Metal binding	547	1	Magnesium By similarity
	Binding site	98	1	Thiamine pyrophosphate By similarity
Natural variations
	Natural variant	374	1	N → D. Ref.4 Corresponds to variant rs17856373 [ dbSNP | Ensembl ].		VAR_038064
	Natural variant	510	1	R → Q. Corresponds to variant rs35548653 [ dbSNP | Ensembl ].		VAR_061901

Sequences

	Sequence		Length	Mass (Da)
	A1L0T0 [UniParc]. Last modified January 15, 2008. Version 2. Checksum: 893F539FC5F1B2EC	FASTA	632	67,868
	10 20 30 40 50 60 METPAAAAPA GSLFPSFLLL ACGTLVAALL GAAHRLGLFY QLLHKVDKAS VRHGGENVAA 70 80 90 100 110 120 VLRAHGVRFI FTLVGGHISP LLVACEKLGI RVVDTRHEVT AVFAADAMAR LSGTVGVAAV 130 140 150 160 170 180 TAGPGLTNTV TAVKNAQMAQ SPILLLGGAA STLLQNRGAL QAVDQLSLFR PLCKFCVSVR 190 200 210 220 230 240 RVRDIVPTLR AAMAAAQSGT PGPVFVELPV DVLYPYFMVQ KEMVPAKPPK GLVGRVVSWY 250 260 270 280 290 300 LENYLANLFA GAWEPQPEGP LPLDIPQASP QQVQRCVEIL SRAKRPLMVL GSQALLTPTS 310 320 330 340 350 360 ADKLRAAVET LGVPCFLGGM ARGLLGRNHP LHIRENRSAA LKKADVIVLA GTVCDFRLSY 370 380 390 400 410 420 GRVLSHSSKI IIVNRNREEM LLNSDIFWKP QEAVQGDVGS FVLKLVEGLQ GQTWAPDWVE 430 440 450 460 470 480 ELREADRQKE QTFREKAAMP VAQHLNPVQV LQLVEETLPD NSILVVDGGD FVGTAAHLVQ 490 500 510 520 530 540 PRGPLRWLDP GAFGTLGVGA GFALGAKLCR PDAEVWCLFG DGAFGYSLIE FDTFVRHKIP 550 560 570 580 590 600 VMALVGNDAG WTQISREQVP SLGSNVACGL AYTDYHKAAM GLGARGLLLS RENEDQVVKV 610 620 630 LHDAQQQCRD GHPVVVNILI GRTDFRDGSI AV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region." Joutel A., Ducros A., Alamowitch S., Cruaud C., Domenga V., Marechal E., Vahedi K., Chabriat H., Bousser M.G., Tournier-Lasserve E. Genomics 38:192-198(1996) [PubMed: 8954801] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Fetal brain.
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-374. Tissue: Pancreas and Placenta.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00554541. IPI01017876.
RefSeq	NP_006835.2. NM_006844.3.
UniGene	Hs.78880.
3D structure databases
ProteinModelPortal	A1L0T0.
SMR	A1L0T0. Positions 50-630.
ModBase	Search...
Protein-protein interaction databases
IntAct	A1L0T0. 3 interactions.
MINT	MINT-1417151.
STRING	A1L0T0.
PTM databases
PhosphoSite	A1L0T0.
Proteomic databases
PeptideAtlas	A1L0T0.
PRIDE	A1L0T0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000263383; ENSP00000263383; ENSG00000105135.
GeneID	10994.
KEGG	hsa:10994.
UCSC	uc002nam.1. human. uc010dzx.1. human.
Organism-specific databases
CTD	10994.
GeneCards	GC19M015225.
H-InvDB	HIX0014847.
HGNC	HGNC:6041. ILVBL.
MIM	605770. gene.
neXtProt	NX_A1L0T0.
PharmGKB	PA29857.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05101.
GeneTree	ENSGT00530000063412.
HOGENOM	HBG323037.
HOVERGEN	HBG108004.
InParanoid	A1L0T0.
OMA	FLGGMSR.
OrthoDB	EOG48D0V2.
PhylomeDB	A1L0T0.
Gene expression databases
Bgee	A1L0T0.
CleanEx	HS_ILVBL.
Genevestigator	A1L0T0.
Family and domain databases
InterPro	IPR012000. Thiamin_PyroP_enz_cen_dom. IPR012001. Thiamin_PyroP_enz_TPP-bd_dom. IPR000399. TPP-bd_CS. IPR011766. TPP_enzyme-bd_C. [Graphical view]
KO	K11259.
Pfam	PF02775. TPP_enzyme_C. 1 hit. PF00205. TPP_enzyme_M. 1 hit. PF02776. TPP_enzyme_N. 1 hit. [Graphical view]
PROSITE	PS00187. TPP_ENZYMES. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	41779.
SOURCE	Search...

Entry information

Entry name

ILVBL_HUMAN

Accession

Primary (citable) accession number: A1L0T0
Secondary accession number(s): O43341 , Q96F08, Q99651, Q9BWN5, Q9UEB2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	January 15, 2008
Last modified:	January 25, 2012
This is version 47 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.