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UniProtKB - Q9UKV3 (ACINU_HUMAN)

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Protein

Apoptotic chromatin condensation inducer in the nucleus

Gene

ACIN1

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

Functioni

Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells.5 Publications

Caution

Structural and functional studies of the ASAP complex have been conducted with a chimeric complex involving a conserved fragment of Drosophila melanogaster Acinus/hkl.1 Publication

GO - Molecular functioni

  • ATPase activity Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • nucleic acid binding Source: UniProtKB
  • RNA binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • apoptotic chromosome condensation Source: UniProtKB
  • erythrocyte differentiation Source: UniProtKB
  • mRNA processing Source: UniProtKB-KW
  • negative regulation of mRNA splicing, via spliceosome Source: UniProtKB
  • positive regulation of apoptotic process Source: UniProtKB
  • positive regulation of monocyte differentiation Source: UniProtKB
  • RNA splicing Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionRNA-binding
Biological processApoptosis, mRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-111465 Apoptotic cleavage of cellular proteins
SIGNORiQ9UKV3

Protein family/group databases

TCDBi3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

Names & Taxonomyi

Protein namesi
Recommended name:
Apoptotic chromatin condensation inducer in the nucleus
Short name:
Acinus
Gene namesi
Name:ACIN1
Synonyms:ACINUS, KIAA0670
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000100813.14
HGNCiHGNC:17066 ACIN1
MIMi604562 gene
neXtProtiNX_Q9UKV3

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

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1093D → A: Abolishes cleavage by CASP3 and chromatin condensation activity. 1 Publication1

Organism-specific databases

DisGeNETi22985
OpenTargetsiENSG00000100813
PharmGKBiPA134912489

Polymorphism and mutation databases

BioMutaiACIN1
DMDMi308153407

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000644361 – 1341Apoptotic chromatin condensation inducer in the nucleusAdd BLAST1341

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei132PhosphoserineCombined sources1
Modified residuei166PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Modified residuei208PhosphoserineCombined sources1
Modified residuei210PhosphoserineCombined sources1
Modified residuei216PhosphoserineCombined sources1
Modified residuei240PhosphoserineCombined sources1
Modified residuei243PhosphoserineCombined sources1
Modified residuei254PhosphothreonineCombined sources1
Cross-linki268Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Modified residuei269PhosphothreonineCombined sources1
Modified residuei295PhosphoserineCombined sources1
Cross-linki305Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki315Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei326PhosphothreonineCombined sources1
Modified residuei328PhosphoserineCombined sources1
Modified residuei365PhosphoserineCombined sources1
Cross-linki375Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei384PhosphoserineCombined sources1
Modified residuei386PhosphoserineCombined sources1
Modified residuei388PhosphoserineCombined sources1
Modified residuei393PhosphothreonineCombined sources1
Modified residuei400PhosphoserineCombined sources1
Modified residuei410PhosphoserineCombined sources1
Modified residuei414PhosphothreonineCombined sources1
Modified residuei420PhosphothreonineCombined sources1
Modified residuei434PhosphoserineCombined sources1
Modified residuei453PhosphoserineCombined sources1
Modified residuei478PhosphoserineCombined sources1
Modified residuei490PhosphoserineCombined sources1
Modified residuei512PhosphotyrosineCombined sources1
Modified residuei522PhosphoserineCombined sources1
Cross-linki532Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei561PhosphoserineCombined sources1
Modified residuei654N6,N6,N6-trimethyllysine; by EHMT2; alternate1 Publication1
Modified residuei654N6,N6-dimethyllysine; by EHMT2; alternate1 Publication1
Modified residuei655PhosphoserineCombined sources1
Modified residuei657PhosphoserineCombined sources1
Modified residuei682PhosphothreonineCombined sources1
Modified residuei710PhosphoserineCombined sources1
Modified residuei714PhosphoserineCombined sources1
Modified residuei717N6-acetyllysineCombined sources1
Modified residuei720PhosphothreonineCombined sources1
Modified residuei729PhosphoserineCombined sources1
Cross-linki732Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei825PhosphoserineCombined sources1
Modified residuei838PhosphoserineCombined sources1
Modified residuei861N6-acetyllysine; alternateBy similarity1
Cross-linki861Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki879Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei895PhosphoserineCombined sources1
Modified residuei898PhosphoserineCombined sources1
Cross-linki970Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei976PhosphothreonineCombined sources1
Modified residuei987PhosphoserineCombined sources1
Modified residuei990PhosphoserineCombined sources1
Modified residuei1004PhosphoserineCombined sources1
Cross-linki1047Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1107Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1180Phosphoserine; by SRPK2 and PKB/AKT11 Publication1
Isoform 4 (identifier: Q9UKV3-5)
Modified residuei825PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation on Ser-1180 by SRPK2 up-regulates its stimulatory effect on cyclin A1.1 Publication
Undergoes proteolytic cleavage; the processed form is active, contrary to the uncleaved form.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei1093 – 1094Cleavage; by caspase-32

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9UKV3
PaxDbiQ9UKV3
PeptideAtlasiQ9UKV3
PRIDEiQ9UKV3
ProteomicsDBi84889
84890 [Q9UKV3-2]
84891 [Q9UKV3-3]
84892 [Q9UKV3-5]

PTM databases

iPTMnetiQ9UKV3
PhosphoSitePlusiQ9UKV3
SwissPalmiQ9UKV3

Miscellaneous databases

PMAP-CutDBiQ9UKV3

Expressioni

Tissue specificityi

Ubiquitous. The Ser-1180 phosphorylated form (by SRPK2) is highly expressed and phosphorylated in patients with myeloid hematologic malignancies.

Gene expression databases

BgeeiENSG00000100813
CleanExiHS_ACIN1
ExpressionAtlasiQ9UKV3 baseline and differential
GenevisibleiQ9UKV3 HS

Organism-specific databases

HPAiHPA000657

Interactioni

Subunit structurei

Found in a mRNA splicing-dependent exon junction complex (EJC). Component of the heterotrimeric ASAP (apoptosis- and splicing-associated protein) complexes consisting of RNPS1, SAP18 and different isoforms of ACIN1; the association of SAP18 seems to require a preformed RNPS1:ACIN1 complex. Interacts with API5. Interacts with SRPK2 in a phosphorylation-dependent manner.6 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi116634, 122 interactors
CORUMiQ9UKV3
DIPiDIP-32963N
IntActiQ9UKV3, 30 interactors
MINTiQ9UKV3
STRINGi9606.ENSP00000262710

Structurei

3D structure databases

ProteinModelPortaliQ9UKV3
SMRiQ9UKV3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini72 – 106SAPPROSITE-ProRule annotationAdd BLAST35

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1210 – 1237Sufficient for interaction with RNPS1 and SAP18 and formation of th ASAP complexBy similarityAdd BLAST28

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi142 – 442Glu-richAdd BLAST301
Compositional biasi573 – 676Ser-richAdd BLAST104
Compositional biasi1114 – 1131Pro-richAdd BLAST18
Compositional biasi1132 – 1341Arg/Asp/Glu/Lys-richAdd BLAST210

Phylogenomic databases

eggNOGiKOG2416 Eukaryota
ENOG4111HR1 LUCA
GeneTreeiENSGT00710000106790
HOGENOMiHOG000088615
HOVERGENiHBG050449
InParanoidiQ9UKV3
KOiK12875
OMAiEDEMIHP
OrthoDBiEOG091G0MO8
PhylomeDBiQ9UKV3
TreeFamiTF320727

Family and domain databases

CDDicd12432 RRM_ACINU, 1 hit
Gene3Di1.10.720.30, 1 hit
3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR034257 Acinus_RRM
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR032552 RSB_motif
IPR003034 SAP_dom
IPR036361 SAP_dom_sf
PfamiView protein in Pfam
PF16294 RSB_motif, 1 hit
PF02037 SAP, 1 hit
SMARTiView protein in SMART
SM00513 SAP, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
SSF68906 SSF68906, 1 hit
PROSITEiView protein in PROSITE
PS50800 SAP, 1 hit

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9UKV3-1) [UniParc]FASTAAdd to basket
Also known as: L

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
MWRRKHPRTS GGTRGVLSGN RGVEYGSGRG HLGTFEGRWR KLPKMPEAVG 
        60         70         80         90        100
TDPSTSRKMA ELEEVTLDGK PLQALRVTDL KAALEQRGLA KSGQKSALVK 
       110        120        130        140        150
RLKGALMLEN LQKHSTPHAA FQPNSQIGEE MSQNSFIKQY LEKQQELLRQ 
       160        170        180        190        200
RLEREAREAA ELEEASAESE DEMIHPEGVA SLLPPDFQSS LERPELELSR 
       210        220        230        240        250
HSPRKSSSIS EEKGDSDDEK PRKGERRSSR VRQARAAKLS EGSQPAEEEE 
       260        270        280        290        300
DQETPSRNLR VRADRNLKTE EEEEEEEEEE EDDEEEEGDD EGQKSREAPI 
       310        320        330        340        350
LKEFKEEGEE IPRVKPEEMM DERPKTRSQE QEVLERGGRF TRSQEEARKS 
       360        370        380        390        400
HLARQQQEKE MKTTSPLEEE EREIKSSQGL KEKSKSPSPP RLTEDRKKAS 
       410        420        430        440        450
LVALPEQTAS EEETPPPLLT KEASSPPPHP QLHSEEEIEP MEGPAPAVLI 
       460        470        480        490        500
QLSPPNTDAD TRELLVSQHT VQLVGGLSPL SSPSDTKAES PAEKVPEESV 
       510        520        530        540        550
LPLVQKSTLA DYSAQKDLEP ESDRSAQPLP LKIEELALAK GITEECLKQP 
       560        570        580        590        600
SLEQKEGRRA SHTLLPSHRL KQSADSSSSR SSSSSSSSSR SRSRSPDSSG 
       610        620        630        640        650
SRSHSPLRSK QRDVAQARTH ANPRGRPKMG SRSTSESRSR SRSRSRSASS 
       660        670        680        690        700
NSRKSLSPGV SRDSSTSYTE TKDPSSGQEV ATPPVPQLQV CEPKERTSTS 
       710        720        730        740        750
SSSVQARRLS QPESAEKHVT QRLQPERGSP KKCEAEEAEP PAATQPQTSE 
       760        770        780        790        800
TQTSHLPESE RIHHTVEEKE EVTMDTSENR PENDVPEPPM PIADQVSNDD 
       810        820        830        840        850
RPEGSVEDEE KKESSLPKSF KRKISVVSAT KGVPAGNSDT EGGQPGRKRR 
       860        870        880        890        900
WGASTATTQK KPSISITTES LKSLIPDIKP LAGQEAVVDL HADDSRISED 
       910        920        930        940        950
ETERNGDDGT HDKGLKICRT VTQVVPAEGQ ENGQREEEEE EKEPEAEPPV 
       960        970        980        990       1000
PPQVSVEVAL PPPAEHEVKK VTLGDTLTRR SISQQKSGVS ITIDDPVRTA 
      1010       1020       1030       1040       1050
QVPSPPRGKI SNIVHISNLV RPFTLGQLKE LLGRTGTLVE EAFWIDKIKS 
      1060       1070       1080       1090       1100
HCFVTYSTVE EAVATRTALH GVKWPQSNPK FLCADYAEQD ELDYHRGLLV 
      1110       1120       1130       1140       1150
DRPSETKTEE QGIPRPLHPP PPPPVQPPQH PRAEQREQER AVREQWAERE 
      1160       1170       1180       1190       1200
REMERRERTR SEREWDRDKV REGPRSRSRS RDRRRKERAK SKEKKSEKKE 
      1210       1220       1230       1240       1250
KAQEEPPAKL LDDLFRKTKA APCIYWLPLT DSQIVQKEAE RAERAKEREK 
      1260       1270       1280       1290       1300
RRKEQEEEEQ KEREKEAERE RNRQLEREKR REHSRERDRE RERERERDRG 
      1310       1320       1330       1340 
DRDRDRERDR ERGRERDRRD TKRHSRSRSR STPVRDRGGR R
Length:1,341
Mass (Da):151,862
Last modified:October 5, 2010 - v2
Checksum:iDCCBF310A4680691
GO
Isoform 2 (identifier: Q9UKV3-2) [UniParc]FASTAAdd to basket
Also known as: S'

The sequence of this isoform differs from the canonical sequence as follows:
     1-727: Missing.
     728-766: GSPKKCEAEE...PESERIHHTV → MSPADRCRSA...DQSSRTRGLP

Show »
Length:614
Mass (Da):70,948
Checksum:i2E994FB0FA922F4C
GO
Isoform 3 (identifier: Q9UKV3-3) [UniParc]FASTAAdd to basket
Also known as: S

The sequence of this isoform differs from the canonical sequence as follows:
     1-758: Missing.
     759-766: SERIHHTV → MLSESKEG

Show »
Length:583
Mass (Da):67,566
Checksum:iF227265F2F6BBF68
GO
Isoform 4 (identifier: Q9UKV3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     829-829: Missing.
     873-884: Missing.

Show »
Length:1,328
Mass (Da):150,557
Checksum:i47A3C106859D46DB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti139Q → H in BAA31645 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050632257R → K. Corresponds to variant dbSNP:rs11555803Ensembl.1
Natural variantiVAR_022031311I → M. Corresponds to variant dbSNP:rs3811182Ensembl.1
Natural variantiVAR_061547447A → PCombined sources5 PublicationsCorresponds to variant dbSNP:rs941719Ensembl.1
Natural variantiVAR_022032467S → P. Corresponds to variant dbSNP:rs1885097Ensembl.1
Natural variantiVAR_022033478S → F. Corresponds to variant dbSNP:rs3751501Ensembl.1
Natural variantiVAR_0357771160R → Q in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs754494408Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0040261 – 758Missing in isoform 3. 2 PublicationsAdd BLAST758
Alternative sequenceiVSP_0040251 – 727Missing in isoform 2. 1 PublicationAdd BLAST727
Alternative sequenceiVSP_004028728 – 766GSPKK…IHHTV → MSPADRCRSANTIEPATTSS LALFLLLQRDQSSRTRGLP in isoform 2. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_004029759 – 766SERIHHTV → MLSESKEG in isoform 3. 2 Publications8
Alternative sequenceiVSP_042204829Missing in isoform 4. 1 Publication1
Alternative sequenceiVSP_042205873 – 884Missing in isoform 4. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF124726 mRNA Translation: AAD56724.1
AF124727 mRNA Translation: AAD56725.1
AF124728 mRNA Translation: AAD56726.1
BX247975 mRNA Translation: CAD62309.1
AL117258 Genomic DNA No translation available.
AL132780 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW66187.1
CH471078 Genomic DNA Translation: EAW66188.1
BC140805 mRNA Translation: AAI40806.1
AB014570 mRNA Translation: BAA31645.2
AL050382 mRNA Translation: CAB43681.2
CCDSiCCDS53887.1 [Q9UKV3-3]
CCDS53888.1 [Q9UKV3-2]
CCDS55905.1 [Q9UKV3-5]
CCDS9587.1 [Q9UKV3-1]
RefSeqiNP_001158286.1, NM_001164814.1
NP_001158287.1, NM_001164815.1
NP_001158288.1, NM_001164816.1 [Q9UKV3-2]
NP_001158289.1, NM_001164817.1 [Q9UKV3-3]
NP_055792.1, NM_014977.3
XP_005267475.1, XM_005267418.1 [Q9UKV3-3]
UniGeneiHs.124490

Genome annotation databases

EnsembliENST00000262710; ENSP00000262710; ENSG00000100813 [Q9UKV3-1]
ENST00000338631; ENSP00000345541; ENSG00000100813 [Q9UKV3-2]
ENST00000357481; ENSP00000350073; ENSG00000100813 [Q9UKV3-3]
ENST00000397341; ENSP00000380502; ENSG00000100813 [Q9UKV3-3]
ENST00000555053; ENSP00000451328; ENSG00000100813 [Q9UKV3-5]
GeneIDi22985
KEGGihsa:22985
UCSCiuc001wip.5 human [Q9UKV3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiACINU_HUMAN
AccessioniPrimary (citable) accession number: Q9UKV3
Secondary accession number(s): B2RTT4
, D3DS45, O75158, Q9UG91, Q9UKV1, Q9UKV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: October 5, 2010
Last modified: July 18, 2018
This is version 177 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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

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