ACIN1
Apoptotic chromatin condensation inducer in the nucleus
Also known as: ACINU_HUMAN, ACINUS, fSAP152, KIAA0670
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UKV3
- Gene
- ACIN1
- Ensembl
- ENSG00000100813
- Chromosome
- 14
- Canonical length
- 1341 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Transporters
- Subcellular location
- Nucleoplasm,Plasma membrane,Cytosol
OverviewNCBI Gene
Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Canonical amino-acid sequenceUniProt
1341 residues, UniProt reviewed canonical sequence.
>Q9UKV3|ACIN1
1 MWRRKHPRTS GGTRGVLSGN RGVEYGSGRG HLGTFEGRWR KLPKMPEAVG TDPSTSRKMA
61 ELEEVTLDGK PLQALRVTDL KAALEQRGLA KSGQKSALVK RLKGALMLEN LQKHSTPHAA
121 FQPNSQIGEE MSQNSFIKQY LEKQQELLRQ RLEREAREAA ELEEASAESE DEMIHPEGVA
181 SLLPPDFQSS LERPELELSR HSPRKSSSIS EEKGDSDDEK PRKGERRSSR VRQARAAKLS
241 EGSQPAEEEE DQETPSRNLR VRADRNLKTE EEEEEEEEEE EDDEEEEGDD EGQKSREAPI
301 LKEFKEEGEE IPRVKPEEMM DERPKTRSQE QEVLERGGRF TRSQEEARKS HLARQQQEKE
361 MKTTSPLEEE EREIKSSQGL KEKSKSPSPP RLTEDRKKAS LVALPEQTAS EEETPPPLLT
421 KEASSPPPHP QLHSEEEIEP MEGPAPAVLI QLSPPNTDAD TRELLVSQHT VQLVGGLSPL
481 SSPSDTKAES PAEKVPEESV LPLVQKSTLA DYSAQKDLEP ESDRSAQPLP LKIEELALAK
541 GITEECLKQP SLEQKEGRRA SHTLLPSHRL KQSADSSSSR SSSSSSSSSR SRSRSPDSSG
601 SRSHSPLRSK QRDVAQARTH ANPRGRPKMG SRSTSESRSR SRSRSRSASS NSRKSLSPGV
661 SRDSSTSYTE TKDPSSGQEV ATPPVPQLQV CEPKERTSTS SSSVQARRLS QPESAEKHVT
721 QRLQPERGSP KKCEAEEAEP PAATQPQTSE TQTSHLPESE RIHHTVEEKE EVTMDTSENR
781 PENDVPEPPM PIADQVSNDD RPEGSVEDEE KKESSLPKSF KRKISVVSAT KGVPAGNSDT
841 EGGQPGRKRR WGASTATTQK KPSISITTES LKSLIPDIKP LAGQEAVVDL HADDSRISED
901 ETERNGDDGT HDKGLKICRT VTQVVPAEGQ ENGQREEEEE EKEPEAEPPV PPQVSVEVAL
961 PPPAEHEVKK VTLGDTLTRR SISQQKSGVS ITIDDPVRTA QVPSPPRGKI SNIVHISNLV
1021 RPFTLGQLKE LLGRTGTLVE EAFWIDKIKS HCFVTYSTVE EAVATRTALH GVKWPQSNPK
1081 FLCADYAEQD ELDYHRGLLV DRPSETKTEE QGIPRPLHPP PPPPVQPPQH PRAEQREQER
1141 AVREQWAERE REMERRERTR SEREWDRDKV REGPRSRSRS RDRRRKERAK SKEKKSEKKE
1201 KAQEEPPAKL LDDLFRKTKA APCIYWLPLT DSQIVQKEAE RAERAKEREK RRKEQEEEEQ
1261 KEREKEAERE RNRQLEREKR REHSRERDRE RERERERDRG DRDRDRERDR ERGRERDRRD
1321 TKRHSRSRSR STPVRDRGGR RLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACIN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 64 nTPM
Expression across tissuesHPA
Tissue
- spleen: 64 nTPM
- bone marrow: 63 nTPM
- adrenal gland: 56 nTPM
- skeletal muscle: 51 nTPM
- esophagus: 50 nTPM
- thymus: 49 nTPM
Single-cell type
- neutrophils: 204 nCPM
- adrenal cortex cells: 157 nCPM
- endometrial glandular cells: 149 nCPM
- neutrophil progenitors: 146 nCPM
- syncytiotrophoblasts: 134 nCPM
- endometrial ciliated cells: 133 nCPM
Immune cell
- neutrophil: 11 nTPM
- NK-cell: 7.7 nTPM
- plasmacytoid DC: 5.5 nTPM
- basophil: 5.4 nTPM
- naive B-cell: 5.4 nTPM
- eosinophil: 5.1 nTPM
Brain region
- cerebellum: 55 nTPM
- white matter: 55 nTPM
- hypothalamus: 54 nTPM
- choroid plexus: 53 nTPM
- thalamus: 52 nTPM
- cerebral cortex: 51 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.2
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.2
- DepMap mean gene effect
- -0.68
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic chromosome condensation
- erythrocyte differentiation
- mRNA processing
- negative regulation of mRNA splicing, via spliceosome
- positive regulation of apoptotic process
- positive regulation of monocyte differentiation
- RNA splicing
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SAP domain
- Nucleotide-binding alpha-beta plait domain superfamily
- RNA-binding domain superfamily
- SAP domain superfamily
- SAP domain
- Acin1, RNSP1-SAP18 binding (RSB) motif
- Acinus, RNA recognition motif
- Exon junction complex-associated protein
- RNSP1-SAP18 binding (RSB) motif
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ACIN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ACIN1 as an antibody target. Whether an autoantibody or antibody against ACIN1 could matter depends on whether native ACIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACIN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ACIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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