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Protein

Autism susceptibility gene 2 protein homolog

Gene

Auts2

Organism
Mus musculus (Mouse)
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. 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. As a consequence, the complex mediates transcriptional activation (By similarity). 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 (PubMed:25533347).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-MMU-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 homolog
Gene namesi
Name:Auts2
Synonyms:Kiaa0442Imported
OrganismiMus musculus (Mouse)Imported
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:1919847 Auts2

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

Disruption phenotypei

Brain-specific gene disruption gives rise to no visible phenotype at birth. Mutant mice have normal weight at birth, but then show decreased weight gain over the next few days, decreased milk uptake, impaired motor skills and impaired ultrasonic vocalization after maternal separation.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004418891 – 1261Autism susceptibility gene 2 protein homologAdd BLAST1261

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1200PhosphoserineBy similarity1
Modified residuei1235PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiA0A087WPF7

Expressioni

Tissue specificityi

Detected in brain cortex in embryo, neonates and adults (at protein level) (PubMed:19948250, PubMed:25533347, PubMed:25519132). Detected in embryonic and adult Purkinje cells in the cerebellum (PubMed:19948250). Detected in dorsal thalamus and in dopaminergic neurons in substantia nigra (PubMed:19948250).3 Publications

Developmental stagei

Detected in embryonic brain cortex at 15 dpc, and at clearly lower levels in adult brain cortex, hippocampus and in cerebellum Purkinje cells (at protein level) (PubMed:25519132). Very low and barely detectable in embryonic brain at 11 dpc. Detected in the developing brain cortex, thalamus and cerebellum at 12 and 14 dpc. Uniformly expressed all along the preplate at 13 dpc. At 16 dpc, highly expressed in neurons in deep and superficial layers of the frontal cortical region of the preplate, with much lower expression in the caudal region or the preplate. Highly expressed in thalamus at 14 dpc, and at much lower levels in adults. Highly expressed in hippocampus after 13 dpc; expression levels increase subsequently and are high in dentate gyrus and the CA region of the hippocampus at 19 dpc. Expression in dentate gyrus, granule cell layer and the CA region of the hippocampus continues in neonates and into adulthood.1 Publication

Gene expression databases

BgeeiENSMUSG00000029673 Expressed in 313 organ(s), highest expression level in pituitary gland
ExpressionAtlasiA0A087WPF7 baseline and differential

Interactioni

Subunit structurei

Component of a PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 (PubMed:25519132). Within this complex, interacts directly with PCGF5 and CSNK2B (By similarity). Interacts with the histone acetyltransferase EP300/p300 (By similarity). Interacts (via Pro-rich region) with PREX1, DOCK1 and ELMO2 (PubMed:25533347).By similarity1 Publication1 Publication

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000125349

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni288 – 471Important for regulation of lamellipodia formation1 PublicationAdd BLAST184

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi287 – 645Pro-richPROSITE-ProRule annotationAdd BLAST359
Compositional biasi1124 – 1183His-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.1 Publication

Sequence similaritiesi

Belongs to the AUTS2 family.Curated

Phylogenomic databases

eggNOGiENOG410IGMF Eukaryota
ENOG4111MEB LUCA
GeneTreeiENSGT00390000001466
HOVERGENiHBG063014
OrthoDBiEOG091G01SH

Family and domain databases

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

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A0A087WPF7-1) [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 DRERRSRAGL GTGAAGGIGA GRTRAPSLAS
60 70 80 90 100
SSGSDKEDNG KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE
110 120 130 140 150
ALEKDVAVKP QERAEKRQTP LTKKKREALT NGLSFHSKKS RLSHSHHYSS
160 170 180 190 200
DRENDRNLCQ HLGKRKKMPK GLRQLKPGQN SCRDSDSESA SGESKGFQRS
210 220 230 240 250
SSRERLSDSS APSSLGTGYF CDSDSDQEEK ASDASSEKLF NTVLVNKDPE
260 270 280 290 300
LGVGALPEHN QDAGPIVPKI SGLERSQEKS QDCCKEPVFE PVVLKDPHPQ
310 320 330 340 350
LPQLPSQAQA EPQLQIPSPG PDLVPRTEAP PQFPPPSTQP AQGPPEAQLQ
360 370 380 390 400
PAPLPQVQQR PPRPQSPSHL LQQTLPPVQS HPSSQSLSQP LSAYNSSSLS
410 420 430 440 450
LNSLSSRSST PAKTQPAPPH ISHHPSASPF PLSLPNHSPL HSFTPTLQPP
460 470 480 490 500
AHSHHPNMFA PPTALPPPPP LTSGSLQVPG HPAGSTYSEQ DILRQELNTR
510 520 530 540 550
FLASQSADRG ASLGPPPYLR TEFHQHQHQH QHTHQHTHQH TFTPFPHAIP
560 570 580 590 600
PTAIMPTPAP PMFDKYPTKV DPFYRHSLFH SYPPAVSGIP PMIPPTGPFG
610 620 630 640 650
SLQGAFQPKT SNPIDVAARP GTVPHTLLQK DPRLTDPFRP MLRKPGKWCA
660 670 680 690 700
MHVHIAWQIY HHQQKVKKQM QSDPHKLDFG LKPEFLSRPP GPSLFGAIHH
710 720 730 740 750
PHDLARPSTL FSAAGAAHPT GTPFGPPPHH SNFLNPAAHL EPFNRPSTFT
760 770 780 790 800
GLAAVGGNAF GGLGNPSVTP NSVFGHKDSP SVQNFSNPHE PWNRLHRTPP
810 820 830 840 850
SFPTPPPWLK PGELERSASA AAHDRDRDVD KRDSSVSKDD KERESVEKRH
860 870 880 890 900
PSHPSPAPPV PVSALGHNRS STDPTTRGHL NTEAREKDKP KEKERDHSGS
910 920 930 940 950
RKDLTTEEHK AKESHLPERD GHSHEGRAAG EEPKQLSRVP SPYVRTPGVD
960 970 980 990 1000
STRPNSTSSR EAEPRKGEPA YENPKKNAEV KVKEERKEDH DLPTEAPQAH
1010 1020 1030 1040 1050
RTSEAPPPSS SASASVHPGP LASMPMTVGV TGIHAMNSIG SLDRTRMVTP
1060 1070 1080 1090 1100
FMGLSPIPGG ERFPYPSFHW DPMRDPLRDP YRDLDMHRRD PLGRDFLLRN
1110 1120 1130 1140 1150
DPLHRLSTPR LYEADRSFRD REPHDYSHHH HHHHHPLAVD PRREHERGGH
1160 1170 1180 1190 1200
LDERERLHVL REDYEHPRLH PVHPASLDGH LPHPSLLTPG LPSMHYPRIS
1210 1220 1230 1240 1250
PTAGHQNGLL NKTPPTAALS APPPLISTLG GRPGSPRRTT PLSAEIRERP
1260
PSHTLKDIEA R
Length:1,261
Mass (Da):138,920
Last modified:October 25, 2017 - v2
Checksum:i0E5C161A1211D6FF
GO
Isoform 2 (identifier: A0A087WPF7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     231-258: ASDASSEKLFNTVLVNKDPELGVGALPE → VRRHPLHCKHNPQGSGCTVTCLLVPVPL
     259-1261: Missing.

Show »
Length:258
Mass (Da):28,416
Checksum:i9C1718D3C3B31ED9
GO
Isoform 3 (identifier: A0A087WPF7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-457: Missing.
     563-577: Missing.

Note: No experimental confirmation available.
Show »
Length:789
Mass (Da):87,457
Checksum:i2412FD8614116180
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PZ86E9PZ86_MOUSE
Autism susceptibility gene 2 protei...
Auts2
804Annotation score:
S4R200S4R200_MOUSE
Autism susceptibility gene 2 protei...
Auts2
142Annotation score:
E0CZ47E0CZ47_MOUSE
Autism susceptibility gene 2 protei...
Auts2
119Annotation score:
J3QNT9J3QNT9_MOUSE
Autism susceptibility gene 2 protei...
Auts2
103Annotation score:
A0A087WSK2A0A087WSK2_MOUSE
Autism susceptibility gene 2 protei...
Auts2
48Annotation score:
A0A2C9F2I4A0A2C9F2I4_MOUSE
Autism susceptibility gene 2 protei...
Auts2
1,013Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0591241 – 457Missing in isoform 3. Add BLAST457
Alternative sequenceiVSP_059125231 – 258ASDAS…GALPE → VRRHPLHCKHNPQGSGCTVT CLLVPVPL in isoform 2. Add BLAST28
Alternative sequenceiVSP_059126259 – 1261Missing in isoform 2. Add BLAST1003
Alternative sequenceiVSP_059127563 – 577Missing in isoform 3. Add BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK052418 mRNA Translation: BAC34980.1
AC102355 Genomic DNA No translation available.
AC103371 Genomic DNA No translation available.
AC104195 Genomic DNA No translation available.
AC113203 Genomic DNA No translation available.
AC113510 Genomic DNA No translation available.
AC117622 Genomic DNA No translation available.
AC118932 Genomic DNA No translation available.
AC121298 Genomic DNA No translation available.
AC121500 Genomic DNA No translation available.
AC157928 Genomic DNA No translation available.
AC164607 Genomic DNA No translation available.
BC151031 mRNA Translation: AAI51032.1
BC151047 mRNA Translation: AAI51048.1
AK129144 mRNA Translation: BAC97954.1
RefSeqiNP_796021.2, NM_177047.3
UniGeneiMm.409595
Mm.428892
Mm.488992

Genome annotation databases

EnsembliENSMUST00000161374; ENSMUSP00000124730; ENSMUSG00000029673 [A0A087WPF7-3]
GeneIDi319974
KEGGimmu:319974
UCSCiuc008zuv.1 mouse [A0A087WPF7-1]
uc008zuw.1 mouse

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK052418 mRNA Translation: BAC34980.1
AC102355 Genomic DNA No translation available.
AC103371 Genomic DNA No translation available.
AC104195 Genomic DNA No translation available.
AC113203 Genomic DNA No translation available.
AC113510 Genomic DNA No translation available.
AC117622 Genomic DNA No translation available.
AC118932 Genomic DNA No translation available.
AC121298 Genomic DNA No translation available.
AC121500 Genomic DNA No translation available.
AC157928 Genomic DNA No translation available.
AC164607 Genomic DNA No translation available.
BC151031 mRNA Translation: AAI51032.1
BC151047 mRNA Translation: AAI51048.1
AK129144 mRNA Translation: BAC97954.1
RefSeqiNP_796021.2, NM_177047.3
UniGeneiMm.409595
Mm.428892
Mm.488992

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000125349

Proteomic databases

PaxDbiA0A087WPF7

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000161374; ENSMUSP00000124730; ENSMUSG00000029673 [A0A087WPF7-3]
GeneIDi319974
KEGGimmu:319974
UCSCiuc008zuv.1 mouse [A0A087WPF7-1]
uc008zuw.1 mouse

Organism-specific databases

CTDi26053
MGIiMGI:1919847 Auts2
RougeiSearch...

Phylogenomic databases

eggNOGiENOG410IGMF Eukaryota
ENOG4111MEB LUCA
GeneTreeiENSGT00390000001466
HOVERGENiHBG063014
OrthoDBiEOG091G01SH

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiAuts2 mouse
PROiPR:A0A087WPF7
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000029673 Expressed in 313 organ(s), highest expression level in pituitary gland
ExpressionAtlasiA0A087WPF7 baseline and differential

Family and domain databases

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

Entry informationi

Entry nameiAUTS2_MOUSE
AccessioniPrimary (citable) accession number: A0A087WPF7
Secondary accession number(s): E9PWJ4, Q6ZQB3, Q8BWI6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2017
Last sequence update: October 25, 2017
Last modified: November 7, 2018
This is version 27 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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