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Protein

Autism susceptibility gene 2 protein

Gene

AUTS2

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

Functioni

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity).By similarity1 Publication

GO - Molecular functioni

  • chromatin binding Source: MGI

GO - Biological processi

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000158321.15
HGNCiHGNC:14262 AUTS2
MIMi607270 gene
neXtProtiNX_Q8WXX7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 26 (MRD26)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms.
See also OMIM:615834

Keywords - Diseasei

Autism, Autism spectrum disorder, Mental retardation

Organism-specific databases

DisGeNETi26053
MalaCardsiAUTS2
MIMi615834 phenotype
OpenTargetsiENSG00000158321
Orphaneti106 Autism
352490 Autism spectrum disorder due to AUTS2 deficiency
99860 Precursor B-cell acute lymphoblastic leukemia
PharmGKBiPA134863175

Polymorphism and mutation databases

BioMutaiAUTS2
DMDMi23396464

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000647671 – 1259Autism susceptibility gene 2 proteinAdd BLAST1259

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1198PhosphoserineCombined sources1
Modified residuei1233PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8WXX7
PaxDbiQ8WXX7
PeptideAtlasiQ8WXX7
PRIDEiQ8WXX7
ProteomicsDBi75113
75114 [Q8WXX7-2]
75115 [Q8WXX7-3]

PTM databases

iPTMnetiQ8WXX7
PhosphoSitePlusiQ8WXX7

Expressioni

Tissue specificityi

Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes.2 Publications

Gene expression databases

BgeeiENSG00000158321
CleanExiHS_AUTS2
ExpressionAtlasiQ8WXX7 baseline and differential
GenevisibleiQ8WXX7 HS

Organism-specific databases

HPAiHPA000390

Interactioni

Subunit structurei

Component of a PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2. Within this complex, interacts directly with PCGF5 and CSNK2B (PubMed:25519132). Interacts with the histone acetyltransferase EP300/p300 (PubMed:25519132). Interacts (via Pro-rich region) with PREX1, DOCK1 and ELMO2 (By similarity).By similarity1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117516, 21 interactors
DIPiDIP-61355N
IntActiQ8WXX7, 21 interactors
STRINGi9606.ENSP00000344087

Structurei

3D structure databases

ProteinModelPortaliQ8WXX7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni289 – 472Important for regulation of lamellipodia formationBy similarityAdd BLAST184

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi288 – 471Pro-richPROSITE-ProRule annotationAdd BLAST184
Compositional biasi525 – 548His-richPROSITE-ProRule annotationAdd BLAST24
Compositional biasi545 – 646Pro-richPROSITE-ProRule annotationAdd BLAST102
Compositional biasi1122 – 1181His-richPROSITE-ProRule annotationAdd BLAST60

Domaini

The Pro-rich region is important for the interaction with RAC guanine nucleotide exchange factors and the subsequent activation of RAC1, which then promotes lamellipodia formation.By similarity

Sequence similaritiesi

Belongs to the AUTS2 family.Curated

Phylogenomic databases

eggNOGiENOG410IGMF Eukaryota
ENOG4111MEB LUCA
GeneTreeiENSGT00390000001466
HOGENOMiHOG000143450
HOVERGENiHBG050644
InParanoidiQ8WXX7
OMAiHWDPIRD
OrthoDBiEOG091G01SH
PhylomeDBiQ8WXX7
TreeFamiTF331929

Family and domain databases

InterProiView protein in InterPro
IPR023246 AUTS2
PANTHERiPTHR14429 PTHR14429, 3 hits
PfamiView protein in Pfam
PF15336 Auts2, 1 hit
PRINTSiPR02044 FIBROSIN1LPF

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1Curated (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

        10         20         30         40         50
MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGA GRTRALSLAS
60 70 80 90 100
SSGSDKEDNG KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE
110 120 130 140 150
ALEKDVALKP QERVEKRQTP LTKKKREALT NGLSFHSKKS RLSHPHHYSS
160 170 180 190 200
DRENDRNLCQ HLGKRKKMPK ALRQLKPGQN SCRDSDSESA SGESKGFHRS
210 220 230 240 250
SSRERLSDSS APSSLGTGYF CDSDSDQEEK ASDASSEKLF NTVIVNKDPE
260 270 280 290 300
LGVGTLPEHD SQDAGPIVPK ISGLERSQEK SQDCCKEPIF EPVVLKDPCP
310 320 330 340 350
QVAQPIPQPQ TEPQLRAPSP DPDLVQRTEA PPQPPPLSTQ PPQGPPEAQL
360 370 380 390 400
QPAPQPQVQR PPRPQSPTQL LHQNLPPVQA HPSAQSLSQP LSAYNSSSLS
410 420 430 440 450
LNSLSSSRSS TPAKTQPAPP HISHHPSASP FPLSLPNHSP LHSFTPTLQP
460 470 480 490 500
PAHSHHPNMF APPTALPPPP PLTSGSLQVA GHPAGSTYSE QDILRQELNT
510 520 530 540 550
RFLASQSADR GASLGPPPYL RTEFHQHQHQ HQHTHQHTHQ HTFTPFPHAI
560 570 580 590 600
PPTAIMPTPA PPMFDKYPTK VDPFYRHSLF HSYPPAVSGI PPMIPPTGPF
610 620 630 640 650
GSLQGAFQPK TSNPIDVAAR PGTVPHTLLQ KDPRLTDPFR PMLRKPGKWC
660 670 680 690 700
AMHVHIAWQI YHHQQKVKKQ MQSDPHKLDF GLKPEFLSRP PGPSLFGAIH
710 720 730 740 750
HPHDLARPST LFSAAGAAHP TGTPFGPPPH HSNFLNPAAH LEPFNRPSTF
760 770 780 790 800
TGLAAVGGNA FGGLGNPSVT PNSMFGHKDG PSVQNFSNPH EPWNRLHRTP
810 820 830 840 850
PSFPTPPPWL KPGELERSAS AAAHDRDRDV DKRDSSVSKD DKERESVEKR
860 870 880 890 900
HSSHPSPAPV LPVNALGHTR SSTEQIRAHL NTEAREKDKP KERERDHSES
910 920 930 940 950
RKDLAADEHK AKEGHLPEKD GHGHEGRAAG EEAKQLARVP SPYVRTPVVE
960 970 980 990 1000
SARPNSTSSR EAEPRKGEPA YENPKKSSEV KVKEERKEDH DLPPEAPQTH
1010 1020 1030 1040 1050
RASEPPPPNS SSSVHPGPLA SMPMTVGVTG IHPMNSISSL DRTRMMTPFM
1060 1070 1080 1090 1100
GISPLPGGER FPYPSFHWDP IRDPLRDPYR ELDIHRRDPL GRDFLLRNDP
1110 1120 1130 1140 1150
LHRLSTPRLY EADRSFRDRE PHDYSHHHHH HHHPLSVDPR REHERGGHLD
1160 1170 1180 1190 1200
ERERLHMLRE DYEHTRLHSV HPASLDGHLP HPSLITPGLP SMHYPRISPT
1210 1220 1230 1240 1250
AGNQNGLLNK TPPTAALSAP PPLISTLGGR PVSPRRTTPL SAEIRERPPS

HTLKDIEAR
Length:1,259
Mass (Da):138,982
Last modified:March 1, 2002 - v1
Checksum:iA64D17AFF816E591
GO
Isoform 2Curated (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 3Curated (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
Isoform 5Curated (identifier: Q8WXX7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-555: Missing.
     611-634: Missing.

Show »
Length:680
Mass (Da):75,998
Checksum:i694A64D7257BBA46
GO

Sequence cautioni

The sequence BAA23714 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti177P → S in BAA23714 (PubMed:9455477).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013864303A → S1 PublicationCorresponds to variant dbSNP:rs2293507Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0570631 – 555Missing in isoform 5. 1 PublicationAdd BLAST555
Alternative sequenceiVSP_043556221 – 266CDSDS…QDAGP → RSGKMCLGEEACLKSGNDMK RDVSNTSSWASNRESFFSLV KLLKGF in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_043557267 – 1259Missing in isoform 3. 1 PublicationAdd BLAST993
Alternative sequenceiVSP_003792611 – 634Missing in isoform 2 and isoform 5. 3 PublicationsAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JQ670866 mRNA Translation: AFY24235.1
JQ670867 mRNA Translation: AFY24236.1
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.5 human [Q8WXX7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAUTS2_HUMAN
AccessioniPrimary (citable) accession number: Q8WXX7
Secondary accession number(s): A4D1Y9
, L7QET3, L7QF75, Q5D049, Q6PJU5, Q9Y4F2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: March 1, 2002
Last modified: June 20, 2018
This is version 137 of the entry and version 1 of the sequence. See 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

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