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A1L0T0

- ILVBL_HUMAN

UniProt

A1L0T0 - ILVBL_HUMAN

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Protein
Acetolactate synthase-like protein
Gene
ILVBL, AHAS
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

Cofactori

Binds 1 magnesium ion per subunit By similarity.
Binds 1 thiamine pyrophosphate per subunit By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei98 – 981Thiamine pyrophosphate By similarity
Metal bindingi521 – 5211Magnesium By similarity
Metal bindingi547 – 5471Magnesium By 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...

GO - Biological processi

    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 – 3321Helical; Reviewed prediction
    Add
    BLAST

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    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 protein
    PRO_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

    ArrayExpressiA1L0T0.
    BgeeiA1L0T0.
    CleanExiHS_ILVBL.
    GenevestigatoriA1L0T0.

    Interactioni

    Protein-protein interaction databases

    BioGridi116190. 19 interactions.
    IntActiA1L0T0. 8 interactions.
    MINTiMINT-1417151.
    STRINGi9606.ENSP00000263383.

    Structurei

    3D structure databases

    ProteinModelPortaliA1L0T0.
    SMRiA1L0T0. Positions 54-586.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni470 – 55081Thiamine pyrophosphate binding By similarity
    Add
    BLAST

    Sequence similaritiesi

    Belongs to the TPP enzyme family.

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0028.
    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

    METPAAAAPA GSLFPSFLLL ACGTLVAALL GAAHRLGLFY QLLHKVDKAS    50
    VRHGGENVAA VLRAHGVRFI FTLVGGHISP LLVACEKLGI RVVDTRHEVT 100
    AVFAADAMAR LSGTVGVAAV TAGPGLTNTV TAVKNAQMAQ SPILLLGGAA 150
    STLLQNRGAL QAVDQLSLFR PLCKFCVSVR RVRDIVPTLR AAMAAAQSGT 200
    PGPVFVELPV DVLYPYFMVQ KEMVPAKPPK GLVGRVVSWY LENYLANLFA 250
    GAWEPQPEGP LPLDIPQASP QQVQRCVEIL SRAKRPLMVL GSQALLTPTS 300
    ADKLRAAVET LGVPCFLGGM ARGLLGRNHP LHIRENRSAA LKKADVIVLA 350
    GTVCDFRLSY GRVLSHSSKI IIVNRNREEM LLNSDIFWKP QEAVQGDVGS 400
    FVLKLVEGLQ GQTWAPDWVE ELREADRQKE QTFREKAAMP VAQHLNPVQV 450
    LQLVEETLPD NSILVVDGGD FVGTAAHLVQ PRGPLRWLDP GAFGTLGVGA 500
    GFALGAKLCR PDAEVWCLFG DGAFGYSLIE FDTFVRHKIP VMALVGNDAG 550
    WTQISREQVP SLGSNVACGL AYTDYHKAAM GLGARGLLLS RENEDQVVKV 600
    LHDAQQQCRD GHPVVVNILI GRTDFRDGSI AV 632
    Length:632
    Mass (Da):67,868
    Last modified:January 15, 2008 - v2
    Checksum:i893F539FC5F1B2EC
    GO

    Sequence cautioni

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

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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...

    Protein-protein interaction databases

    BioGridi 116190. 19 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.
    HOGENOMi HOG000010642.
    HOVERGENi HBG108004.
    InParanoidi A1L0T0.
    KOi K11259.
    OMAi HETNFAG.
    OrthoDBi EOG75B84X.
    PhylomeDBi A1L0T0.
    TreeFami TF354221.

    Miscellaneous databases

    GenomeRNAii 10994.
    NextBioi 41779.
    PROi A1L0T0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A1L0T0.
    Bgeei A1L0T0.
    CleanExi HS_ILVBL.
    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: September 3, 2014
    This is version 70 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

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