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Q8WXX7

- AUTS2_HUMAN

UniProt

Q8WXX7 - AUTS2_HUMAN

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Protein

Autism susceptibility gene 2 protein

Gene
AUTS2, KIAA0442
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

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.

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.

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.

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. VSP_043556Add
BLAST
Alternative sequencei267 – 1259993Missing in isoform 3. VSP_043557Add
BLAST
Alternative sequencei611 – 63424Missing in isoform Short. VSP_003792Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti177 – 1771P → S in BAA23714. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 106 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

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