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A1L0T0

- ILVBL_HUMAN

UniProt

A1L0T0 - ILVBL_HUMAN

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Protein

Acetolactate synthase-like protein

Gene

ILVBL

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

Functioni

Cofactori

Protein has several cofactor binding sites:
  • Mg2+By similarityNote: Binds 1 Mg(2+) ion per subunit.By similarity
  • thiamine diphosphateBy similarityNote: Binds 1 thiamine pyrophosphate per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei98 – 981Thiamine pyrophosphateBy similarity
Metal bindingi521 – 5211MagnesiumBy similarity
Metal bindingi547 – 5471MagnesiumBy similarity

GO - Molecular functioni

  1. magnesium ion binding Source: InterPro
  2. thiamine pyrophosphate binding Source: InterPro
  3. transferase activity Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Ligandi

Magnesium, 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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6041. ILVBL.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei13 – 3321HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29857.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 632632Acetolactate synthase-like proteinPRO_0000314825Add
BLAST

Proteomic databases

MaxQBiA1L0T0.
PaxDbiA1L0T0.
PeptideAtlasiA1L0T0.
PRIDEiA1L0T0.

PTM databases

PhosphoSiteiA1L0T0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiA1L0T0.
CleanExiHS_ILVBL.
ExpressionAtlasiA1L0T0. baseline and differential.
GenevestigatoriA1L0T0.

Interactioni

Protein-protein interaction databases

BioGridi116190. 20 interactions.
IntActiA1L0T0. 8 interactions.
MINTiMINT-1417151.
STRINGi9606.ENSP00000263383.

Structurei

3D structure databases

ProteinModelPortaliA1L0T0.
SMRiA1L0T0. Positions 54-586.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni470 – 55081Thiamine pyrophosphate bindingBy similarityAdd
BLAST

Sequence similaritiesi

Belongs to the TPP enzyme family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0028.
GeneTreeiENSGT00530000063412.
HOGENOMiHOG000010642.
HOVERGENiHBG108004.
InParanoidiA1L0T0.
KOiK11259.
OMAiHETNFAG.
OrthoDBiEOG75B84X.
PhylomeDBiA1L0T0.
TreeFamiTF354221.

Family and domain databases

Gene3Di3.40.50.1220. 1 hit.
3.40.50.970. 2 hits.
InterProiIPR029035. 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.
[Graphical view]
PfamiPF02775. TPP_enzyme_C. 1 hit.
PF00205. TPP_enzyme_M. 1 hit.
PF02776. TPP_enzyme_N. 1 hit.
[Graphical view]
SUPFAMiSSF52467. SSF52467. 2 hits.
SSF52518. SSF52518. 2 hits.
PROSITEiPS00187. TPP_ENZYMES. 1 hit.
[Graphical view]

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 AAC18916.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence AAH00109.1 differs from that shown. Reason: Aberrant splicing.Curated
The sequence AAI26914.1 differs from that shown. Reason: Sequence of unknown origin at the C-terminus.Curated
The sequence AAI26914.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti374 – 3741N → D.1 Publication
Corresponds to variant rs17856373 [ dbSNP | Ensembl ].
VAR_038064
Natural varianti510 – 5101R → Q.
Corresponds to variant rs35548653 [ dbSNP | Ensembl ].
VAR_061901

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_005259717.2.
UniGeneiHs.78880.

Genome annotation databases

EnsembliENST00000263383; ENSP00000263383; ENSG00000105135.
GeneIDi10994.
KEGGihsa:10994.
UCSCiuc002nam.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.
CCDSi CCDS12325.1.
RefSeqi NP_006835.2. NM_006844.4.
XP_005259774.1. XM_005259717.2.
UniGenei Hs.78880.

3D structure databases

ProteinModelPortali A1L0T0.
SMRi A1L0T0. Positions 54-586.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116190. 20 interactions.
IntActi A1L0T0. 8 interactions.
MINTi MINT-1417151.
STRINGi 9606.ENSP00000263383.

PTM databases

PhosphoSitei A1L0T0.

Proteomic databases

MaxQBi A1L0T0.
PaxDbi A1L0T0.
PeptideAtlasi A1L0T0.
PRIDEi A1L0T0.

Protocols and materials databases

DNASUi 10994.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263383 ; ENSP00000263383 ; ENSG00000105135 .
GeneIDi 10994.
KEGGi hsa:10994.
UCSCi uc002nam.3. human.

Organism-specific databases

CTDi 10994.
GeneCardsi GC19M015225.
HGNCi HGNC:6041. ILVBL.
MIMi 605770. gene.
neXtProti NX_A1L0T0.
PharmGKBi PA29857.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0028.
GeneTreei ENSGT00530000063412.
HOGENOMi HOG000010642.
HOVERGENi HBG108004.
InParanoidi A1L0T0.
KOi K11259.
OMAi HETNFAG.
OrthoDBi EOG75B84X.
PhylomeDBi A1L0T0.
TreeFami TF354221.

Miscellaneous databases

ChiTaRSi ILVBL. human.
GenomeRNAii 10994.
NextBioi 41779.
PROi A1L0T0.
SOURCEi Search...

Gene expression databases

Bgeei A1L0T0.
CleanExi HS_ILVBL.
ExpressionAtlasi A1L0T0. baseline and differential.
Genevestigatori A1L0T0.

Family and domain databases

Gene3Di 3.40.50.1220. 1 hit.
3.40.50.970. 2 hits.
InterProi 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.
[Graphical view ]
Pfami PF02775. TPP_enzyme_C. 1 hit.
PF00205. TPP_enzyme_M. 1 hit.
PF02776. TPP_enzyme_N. 1 hit.
[Graphical view ]
SUPFAMi SSF52467. SSF52467. 2 hits.
SSF52518. SSF52518. 2 hits.
PROSITEi PS00187. TPP_ENZYMES. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-374.
    Tissue: Pancreas and Placenta.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiILVBL_HUMAN
AccessioniPrimary (citable) accession number: A1L0T0
Secondary accession number(s): O43341
, Q96F08, Q99651, Q9BWN5, Q9UEB2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 26, 2014
This is version 73 of the entry and version 2 of the sequence. [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

External Data

Dasty 3