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Q8WXX7 (AUTS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Autism susceptibility gene 2 protein
Gene names
Name:AUTS2
Synonyms:KIAA0442
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1259 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

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

Sequence similarities

Belongs to the AUTS2 family.

Sequence caution

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform Long (identifier: Q8WXX7-1)

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.
Isoform Short (identifier: Q8WXX7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     611-634: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8WXX7-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12591259Autism susceptibility gene 2 protein
PRO_0000064767

Regions

Compositional bias383 – 41028Ser-rich
Compositional bias525 – 54824His-rich
Compositional bias1122 – 118160His-rich

Amino acid modifications

Modified residue11981Phosphoserine Ref.8
Modified residue12331Phosphoserine Ref.7

Natural variations

Alternative sequence221 – 26646CDSDS…QDAGP → RSGKMCLGEEACLKSGNDMK RDVSNTSSWASNRESFFSLV KLLKGF in isoform 3.
VSP_043556
Alternative sequence267 – 1259993Missing in isoform 3.
VSP_043557
Alternative sequence611 – 63424Missing in isoform Short.
VSP_003792
Natural variant3031A → S. Ref.1
Corresponds to variant rs2293507 [ dbSNP | Ensembl ].
VAR_013864

Experimental info

Sequence conflict1771P → S in BAA23714. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified March 1, 2002. Version 1.
Checksum: A64D17AFF816E591

FASTA1,259138,982
        10         20         30         40         50         60 
MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGA GRTRALSLAS SSGSDKEDNG 

        70         80         90        100        110        120 
KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE ALEKDVALKP QERVEKRQTP 

       130        140        150        160        170        180 
LTKKKREALT NGLSFHSKKS RLSHPHHYSS DRENDRNLCQ HLGKRKKMPK ALRQLKPGQN 

       190        200        210        220        230        240 
SCRDSDSESA SGESKGFHRS SSRERLSDSS APSSLGTGYF CDSDSDQEEK ASDASSEKLF 

       250        260        270        280        290        300 
NTVIVNKDPE LGVGTLPEHD SQDAGPIVPK ISGLERSQEK SQDCCKEPIF EPVVLKDPCP 

       310        320        330        340        350        360 
QVAQPIPQPQ TEPQLRAPSP DPDLVQRTEA PPQPPPLSTQ PPQGPPEAQL QPAPQPQVQR 

       370        380        390        400        410        420 
PPRPQSPTQL LHQNLPPVQA HPSAQSLSQP LSAYNSSSLS LNSLSSSRSS TPAKTQPAPP 

       430        440        450        460        470        480 
HISHHPSASP FPLSLPNHSP LHSFTPTLQP PAHSHHPNMF APPTALPPPP PLTSGSLQVA 

       490        500        510        520        530        540 
GHPAGSTYSE QDILRQELNT RFLASQSADR GASLGPPPYL RTEFHQHQHQ HQHTHQHTHQ 

       550        560        570        580        590        600 
HTFTPFPHAI PPTAIMPTPA PPMFDKYPTK VDPFYRHSLF HSYPPAVSGI PPMIPPTGPF 

       610        620        630        640        650        660 
GSLQGAFQPK TSNPIDVAAR PGTVPHTLLQ KDPRLTDPFR PMLRKPGKWC AMHVHIAWQI 

       670        680        690        700        710        720 
YHHQQKVKKQ MQSDPHKLDF GLKPEFLSRP PGPSLFGAIH HPHDLARPST LFSAAGAAHP 

       730        740        750        760        770        780 
TGTPFGPPPH HSNFLNPAAH LEPFNRPSTF TGLAAVGGNA FGGLGNPSVT PNSMFGHKDG 

       790        800        810        820        830        840 
PSVQNFSNPH EPWNRLHRTP PSFPTPPPWL KPGELERSAS AAAHDRDRDV DKRDSSVSKD 

       850        860        870        880        890        900 
DKERESVEKR HSSHPSPAPV LPVNALGHTR SSTEQIRAHL NTEAREKDKP KERERDHSES 

       910        920        930        940        950        960 
RKDLAADEHK AKEGHLPEKD GHGHEGRAAG EEAKQLARVP SPYVRTPVVE SARPNSTSSR 

       970        980        990       1000       1010       1020 
EAEPRKGEPA YENPKKSSEV KVKEERKEDH DLPPEAPQTH RASEPPPPNS SSSVHPGPLA 

      1030       1040       1050       1060       1070       1080 
SMPMTVGVTG IHPMNSISSL DRTRMMTPFM GISPLPGGER FPYPSFHWDP IRDPLRDPYR 

      1090       1100       1110       1120       1130       1140 
ELDIHRRDPL GRDFLLRNDP LHRLSTPRLY EADRSFRDRE PHDYSHHHHH HHHPLSVDPR 

      1150       1160       1170       1180       1190       1200 
REHERGGHLD ERERLHMLRE DYEHTRLHSV HPASLDGHLP HPSLITPGLP SMHYPRISPT 

      1210       1220       1230       1240       1250 
AGNQNGLLNK TPPTAALSAP PPLISTLGGR PVSPRRTTPL SAEIRERPPS HTLKDIEAR 

« Hide

Isoform Short [UniParc].

Checksum: C5875E61E209B949
Show »

FASTA1,235136,416
Isoform 3 [UniParc].

Checksum: 5DE33CA2D1AD11A4
Show »

FASTA26629,323

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT00065.
RefSeqNP_001120703.1. NM_001127231.1.
NP_001120704.1. NM_001127232.1.
NP_056385.1. NM_015570.2.
UniGeneHs.21631.
Hs.712991.

3D structure databases

ProteinModelPortalQ8WXX7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117516. 4 interactions.
IntActQ8WXX7. 2 interactions.
STRING9606.ENSP00000344087.

PTM databases

PhosphoSiteQ8WXX7.

Polymorphism databases

DMDM23396464.

Proteomic databases

PaxDbQ8WXX7.
PRIDEQ8WXX7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342771; ENSP00000344087; ENSG00000158321. [Q8WXX7-1]
ENST00000403018; ENSP00000385572; ENSG00000158321. [Q8WXX7-3]
ENST00000406775; ENSP00000385263; ENSG00000158321. [Q8WXX7-2]
GeneID26053.
KEGGhsa:26053.
UCSCuc003tvv.4. human. [Q8WXX7-3]
uc003tvw.4. human. [Q8WXX7-1]
uc003tvx.4. human. [Q8WXX7-2]

Organism-specific databases

CTD26053.
GeneCardsGC07P069063.
HGNCHGNC:14262. AUTS2.
HPAHPA000390.
MIM607270. gene.
neXtProtNX_Q8WXX7.
Orphanet106. Autism.
352490. Autism spectrum disorder due to AUTS2 deficiency.
99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBPA134863175.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41815.
HOGENOMHOG000143450.
HOVERGENHBG050644.
InParanoidQ8WXX7.
OMAYEADRSF.
OrthoDBEOG7CG6ZH.
PhylomeDBQ8WXX7.
TreeFamTF331929.

Gene expression databases

ArrayExpressQ8WXX7.
BgeeQ8WXX7.
CleanExHS_AUTS2.
GenevestigatorQ8WXX7.

Family and domain databases

InterProIPR023246. AUTS2.
[Graphical view]
PRINTSPR02044. FIBROSIN1LPF.
ProtoNetSearch...

Other

ChiTaRSAUTS2. human.
GenomeRNAi26053.
NextBio47920.
PROQ8WXX7.
SOURCESearch...

Entry information

Entry nameAUTS2_HUMAN
AccessionPrimary (citable) accession number: Q8WXX7
Secondary accession number(s): A4D1Y9 expand/collapse secondary AC list , Q5D049, Q6PJU5, Q9Y4F2
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: March 1, 2002
Last modified: March 19, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM