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Q8WXX7

- AUTS2_HUMAN

UniProt

Q8WXX7 - AUTS2_HUMAN

Protein

Autism susceptibility gene 2 protein

Gene

AUTS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Autism susceptibility gene 2 protein
    Gene namesi
    Name:AUTS2
    Synonyms:KIAA0442
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:14262. AUTS2.

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti106. Autism.
    352490. Autism spectrum disorder due to AUTS2 deficiency.
    99860. Precursor B-cell acute lymphoblastic leukemia.
    PharmGKBiPA134863175.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12591259Autism susceptibility gene 2 proteinPRO_0000064767Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1198 – 11981Phosphoserine1 Publication
    Modified residuei1233 – 12331Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ8WXX7.
    PRIDEiQ8WXX7.

    PTM databases

    PhosphoSiteiQ8WXX7.

    Expressioni

    Tissue specificityi

    Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes.1 Publication

    Gene expression databases

    ArrayExpressiQ8WXX7.
    BgeeiQ8WXX7.
    CleanExiHS_AUTS2.
    GenevestigatoriQ8WXX7.

    Organism-specific databases

    HPAiHPA000390.

    Interactioni

    Protein-protein interaction databases

    BioGridi117516. 4 interactions.
    IntActiQ8WXX7. 2 interactions.
    STRINGi9606.ENSP00000344087.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WXX7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi383 – 41028Ser-richAdd
    BLAST
    Compositional biasi525 – 54824His-richAdd
    BLAST
    Compositional biasi1122 – 118160His-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the AUTS2 family.Curated

    Phylogenomic databases

    eggNOGiNOG41815.
    HOGENOMiHOG000143450.
    HOVERGENiHBG050644.
    InParanoidiQ8WXX7.
    OMAiYEADRSF.
    OrthoDBiEOG7CG6ZH.
    PhylomeDBiQ8WXX7.
    TreeFamiTF331929.

    Family and domain databases

    InterProiIPR023246. AUTS2.
    [Graphical view]
    PRINTSiPR02044. FIBROSIN1LPF.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform Long (identifier: Q8WXX7-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGA GRTRALSLAS     50
    SSGSDKEDNG KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE 100
    ALEKDVALKP QERVEKRQTP LTKKKREALT NGLSFHSKKS RLSHPHHYSS 150
    DRENDRNLCQ HLGKRKKMPK ALRQLKPGQN SCRDSDSESA SGESKGFHRS 200
    SSRERLSDSS APSSLGTGYF CDSDSDQEEK ASDASSEKLF NTVIVNKDPE 250
    LGVGTLPEHD SQDAGPIVPK ISGLERSQEK SQDCCKEPIF EPVVLKDPCP 300
    QVAQPIPQPQ TEPQLRAPSP DPDLVQRTEA PPQPPPLSTQ PPQGPPEAQL 350
    QPAPQPQVQR PPRPQSPTQL LHQNLPPVQA HPSAQSLSQP LSAYNSSSLS 400
    LNSLSSSRSS TPAKTQPAPP HISHHPSASP FPLSLPNHSP LHSFTPTLQP 450
    PAHSHHPNMF APPTALPPPP PLTSGSLQVA GHPAGSTYSE QDILRQELNT 500
    RFLASQSADR GASLGPPPYL RTEFHQHQHQ HQHTHQHTHQ HTFTPFPHAI 550
    PPTAIMPTPA PPMFDKYPTK VDPFYRHSLF HSYPPAVSGI PPMIPPTGPF 600
    GSLQGAFQPK TSNPIDVAAR PGTVPHTLLQ KDPRLTDPFR PMLRKPGKWC 650
    AMHVHIAWQI YHHQQKVKKQ MQSDPHKLDF GLKPEFLSRP PGPSLFGAIH 700
    HPHDLARPST LFSAAGAAHP TGTPFGPPPH HSNFLNPAAH LEPFNRPSTF 750
    TGLAAVGGNA FGGLGNPSVT PNSMFGHKDG PSVQNFSNPH EPWNRLHRTP 800
    PSFPTPPPWL KPGELERSAS AAAHDRDRDV DKRDSSVSKD DKERESVEKR 850
    HSSHPSPAPV LPVNALGHTR SSTEQIRAHL NTEAREKDKP KERERDHSES 900
    RKDLAADEHK AKEGHLPEKD GHGHEGRAAG EEAKQLARVP SPYVRTPVVE 950
    SARPNSTSSR EAEPRKGEPA YENPKKSSEV KVKEERKEDH DLPPEAPQTH 1000
    RASEPPPPNS SSSVHPGPLA SMPMTVGVTG IHPMNSISSL DRTRMMTPFM 1050
    GISPLPGGER FPYPSFHWDP IRDPLRDPYR ELDIHRRDPL GRDFLLRNDP 1100
    LHRLSTPRLY EADRSFRDRE PHDYSHHHHH HHHPLSVDPR REHERGGHLD 1150
    ERERLHMLRE DYEHTRLHSV HPASLDGHLP HPSLITPGLP SMHYPRISPT 1200
    AGNQNGLLNK TPPTAALSAP PPLISTLGGR PVSPRRTTPL SAEIRERPPS 1250
    HTLKDIEAR 1259
    Length:1,259
    Mass (Da):138,982
    Last modified:March 1, 2002 - v1
    Checksum:iA64D17AFF816E591
    GO
    Isoform Short (identifier: Q8WXX7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         611-634: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,235
    Mass (Da):136,416
    Checksum:iC5875E61E209B949
    GO
    Isoform 3 (identifier: Q8WXX7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         221-266: CDSDSDQEEK...PEHDSQDAGP → RSGKMCLGEE...FSLVKLLKGF
         267-1259: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:266
    Mass (Da):29,323
    Checksum:i5DE33CA2D1AD11A4
    GO

    Sequence cautioni

    The sequence BAA23714.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti177 – 1771P → S in BAA23714. (PubMed:9455477)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti303 – 3031A → S.1 Publication
    Corresponds to variant rs2293507 [ dbSNP | Ensembl ].
    VAR_013864

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei221 – 26646CDSDS…QDAGP → RSGKMCLGEEACLKSGNDMK RDVSNTSSWASNRESFFSLV KLLKGF in isoform 3. 1 PublicationVSP_043556Add
    BLAST
    Alternative sequencei267 – 1259993Missing in isoform 3. 1 PublicationVSP_043557Add
    BLAST
    Alternative sequencei611 – 63424Missing in isoform Short. 2 PublicationsVSP_003792Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF326917 mRNA. Translation: AAL37411.1.
    AB007902 mRNA. Translation: BAA23714.2. Different initiation.
    AC004773 Genomic DNA. No translation available.
    AC004881 Genomic DNA. No translation available.
    AC004927 Genomic DNA. No translation available.
    AC006012 Genomic DNA. No translation available.
    AC006317 Genomic DNA. No translation available.
    AC006318 Genomic DNA. No translation available.
    AC006319 Genomic DNA. No translation available.
    AC006361 Genomic DNA. No translation available.
    AC073148 Genomic DNA. No translation available.
    AC073873 Genomic DNA. No translation available.
    AC093487 Genomic DNA. No translation available.
    AC093679 Genomic DNA. No translation available.
    AC093685 Genomic DNA. No translation available.
    CH236952 Genomic DNA. Translation: EAL23968.1.
    BC011643 mRNA. Translation: AAH11643.1.
    BC064693 mRNA. Translation: AAH64693.1.
    CCDSiCCDS47601.1. [Q8WXX7-2]
    CCDS47602.1. [Q8WXX7-3]
    CCDS5539.1. [Q8WXX7-1]
    PIRiT00065.
    RefSeqiNP_001120703.1. NM_001127231.2. [Q8WXX7-2]
    NP_001120704.1. NM_001127232.2. [Q8WXX7-3]
    NP_056385.1. NM_015570.3. [Q8WXX7-1]
    UniGeneiHs.21631.
    Hs.712991.

    Genome annotation databases

    EnsembliENST00000342771; ENSP00000344087; ENSG00000158321. [Q8WXX7-1]
    ENST00000403018; ENSP00000385572; ENSG00000158321. [Q8WXX7-3]
    ENST00000406775; ENSP00000385263; ENSG00000158321. [Q8WXX7-2]
    GeneIDi26053.
    KEGGihsa:26053.
    UCSCiuc003tvv.4. human. [Q8WXX7-3]
    uc003tvw.4. human. [Q8WXX7-1]
    uc003tvx.4. human. [Q8WXX7-2]

    Polymorphism databases

    DMDMi23396464.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF326917 mRNA. Translation: AAL37411.1 .
    AB007902 mRNA. Translation: BAA23714.2 . Different initiation.
    AC004773 Genomic DNA. No translation available.
    AC004881 Genomic DNA. No translation available.
    AC004927 Genomic DNA. No translation available.
    AC006012 Genomic DNA. No translation available.
    AC006317 Genomic DNA. No translation available.
    AC006318 Genomic DNA. No translation available.
    AC006319 Genomic DNA. No translation available.
    AC006361 Genomic DNA. No translation available.
    AC073148 Genomic DNA. No translation available.
    AC073873 Genomic DNA. No translation available.
    AC093487 Genomic DNA. No translation available.
    AC093679 Genomic DNA. No translation available.
    AC093685 Genomic DNA. No translation available.
    CH236952 Genomic DNA. Translation: EAL23968.1 .
    BC011643 mRNA. Translation: AAH11643.1 .
    BC064693 mRNA. Translation: AAH64693.1 .
    CCDSi CCDS47601.1. [Q8WXX7-2 ]
    CCDS47602.1. [Q8WXX7-3 ]
    CCDS5539.1. [Q8WXX7-1 ]
    PIRi T00065.
    RefSeqi NP_001120703.1. NM_001127231.2. [Q8WXX7-2 ]
    NP_001120704.1. NM_001127232.2. [Q8WXX7-3 ]
    NP_056385.1. NM_015570.3. [Q8WXX7-1 ]
    UniGenei Hs.21631.
    Hs.712991.

    3D structure databases

    ProteinModelPortali Q8WXX7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117516. 4 interactions.
    IntActi Q8WXX7. 2 interactions.
    STRINGi 9606.ENSP00000344087.

    PTM databases

    PhosphoSitei Q8WXX7.

    Polymorphism databases

    DMDMi 23396464.

    Proteomic databases

    PaxDbi Q8WXX7.
    PRIDEi Q8WXX7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000342771 ; ENSP00000344087 ; ENSG00000158321 . [Q8WXX7-1 ]
    ENST00000403018 ; ENSP00000385572 ; ENSG00000158321 . [Q8WXX7-3 ]
    ENST00000406775 ; ENSP00000385263 ; ENSG00000158321 . [Q8WXX7-2 ]
    GeneIDi 26053.
    KEGGi hsa:26053.
    UCSCi uc003tvv.4. human. [Q8WXX7-3 ]
    uc003tvw.4. human. [Q8WXX7-1 ]
    uc003tvx.4. human. [Q8WXX7-2 ]

    Organism-specific databases

    CTDi 26053.
    GeneCardsi GC07P069063.
    HGNCi HGNC:14262. AUTS2.
    HPAi HPA000390.
    MIMi 607270. gene.
    neXtProti NX_Q8WXX7.
    Orphaneti 106. Autism.
    352490. Autism spectrum disorder due to AUTS2 deficiency.
    99860. Precursor B-cell acute lymphoblastic leukemia.
    PharmGKBi PA134863175.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41815.
    HOGENOMi HOG000143450.
    HOVERGENi HBG050644.
    InParanoidi Q8WXX7.
    OMAi YEADRSF.
    OrthoDBi EOG7CG6ZH.
    PhylomeDBi Q8WXX7.
    TreeFami TF331929.

    Miscellaneous databases

    ChiTaRSi AUTS2. human.
    GenomeRNAii 26053.
    NextBioi 47920.
    PROi Q8WXX7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WXX7.
    Bgeei Q8WXX7.
    CleanExi HS_AUTS2.
    Genevestigatori Q8WXX7.

    Family and domain databases

    InterProi IPR023246. AUTS2.
    [Graphical view ]
    PRINTSi PR02044. FIBROSIN1LPF.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins."
      Sultana R., Yu C.-H., Yu J., Munson J., Chen D., Hua W., Estes A., Cortes F., de la Barra F., Yu D., Haider S.T., Trask B.J., Green E.D., Raskind W.H., Disteche C.M., Wijsman E., Dawson G., Storm D.R., Schellenberg G.D., Villacres E.C.
      Genomics 80:129-134(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), TISSUE SPECIFICITY, VARIANT SER-303.
    2. "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
      Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
      Tissue: Brain.
    3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    4. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS SHORT AND 3).
      Tissue: Muscle and Placenta.
    7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1233, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1198, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiAUTS2_HUMAN
    AccessioniPrimary (citable) accession number: Q8WXX7
    Secondary accession number(s): A4D1Y9
    , Q5D049, Q6PJU5, Q9Y4F2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2002
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 107 of the entry and version 1 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 7
      Human chromosome 7: 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