• Gene id: 22985

Gene Summary

• Gene Symbol: ACIN1   Gene   UCSC   Ensembl
• Aliases: ACINUS, ACN, fSAP152
• Gene name: apoptotic chromatin condensation inducer 1
• Alternate names: apoptotic chromatin condensation inducer in the nucleus, functional spliceosome-associated protein 152,
• Gene location: 14q11.2 (23095613: 23058563)     Exons: 22     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 604562

Protein Summary

• Protein general information: Q9UKV3  
  • Name: Apoptotic chromatin condensation inducer in the nucleus (Acinus)
  • Length: 1341  
  • Mass: 151862
  • Tissue specificity: Ubiquitous. The Ser-1180 phosphorylated form (by SRPK2) is highly expressed and phosphorylated in patients with myeloid hematologic malignancies.
• Sequence:

  MWRRKHPRTSGGTRGVLSGNRGVEYGSGRGHLGTFEGRWRKLPKMPEAVGTDPSTSRKMAELEEVTLDGKPLQAL
  RVTDLKAALEQRGLAKSGQKSALVKRLKGALMLENLQKHSTPHAAFQPNSQIGEEMSQNSFIKQYLEKQQELLRQ
  RLEREAREAAELEEASAESEDEMIHPEGVASLLPPDFQSSLERPELELSRHSPRKSSSISEEKGDSDDEKPRKGE
  RRSSRVRQARAAKLSEGSQPAEEEEDQETPSRNLRVRADRNLKTEEEEEEEEEEEEDDEEEEGDDEGQKSREAPI
  LKEFKEEGEEIPRVKPEEMMDERPKTRSQEQEVLERGGRFTRSQEEARKSHLARQQQEKEMKTTSPLEEEEREIK
  SSQGLKEKSKSPSPPRLTEDRKKASLVALPEQTASEEETPPPLLTKEASSPPPHPQLHSEEEIEPMEGPAPAVLI
  QLSPPNTDADTRELLVSQHTVQLVGGLSPLSSPSDTKAESPAEKVPEESVLPLVQKSTLADYSAQKDLEPESDRS
  AQPLPLKIEELALAKGITEECLKQPSLEQKEGRRASHTLLPSHRLKQSADSSSSRSSSSSSSSSRSRSRSPDSSG
  SRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPS
  SGQEVATPPVPQLQVCEPKERTSTSSSSVQARRLSQPESAEKHVTQRLQPERGSPKKCEAEEAEPPAATQPQTSE
  TQTSHLPESERIHHTVEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKIS
  VVSATKGVPAGNSDTEGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISED
  ETERNGDDGTHDKGLKICRTVTQVVPAEGQENGQREEEEEEKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGD
  TLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTLVEEAFWIDKIKS
  HCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPV
  QPPQHPRAEQREQERAVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKE
  KAQEEPPAKLLDDLFRKTKAAPCIYWLPLTDSQIVQKEAERAERAKEREKRRKEQEEEEQKEREKEAERERNRQL
  EREKRREHSRERDRERERERERDRGDRDRDRERDRERGRERDRRDTKRHSRSRSRSTPVRDRGGRR

• Structural information:
  • Protein Domains: (72..10-)
    (/note="SAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00186"-)
  • Interpro: IPR034257  IPR012677  IPR035979  IPR032552  IPR003034   IPR036361  
  • Prosite: PS50800
  • CDD: cd12432
  • PDB: 6G6S
  • PDBsum: 6G6S
  • DIP: 32963
  • STRING: ENSP00000262710
• Other Databases: GeneCards:  ACIN1  Malacards:  ACIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030263	apoptotic chromosome condensation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0019899	enzyme binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0016887	ATPase activity	NAS	molecular function
GO:0003676	nucleic acid binding	NAS	molecular function
GO:0045657	positive regulation of monocyte differentiation	IEP	biological process
GO:0030218	erythrocyte differentiation	IEP	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0061574	ASAP complex	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03040	Spliceosome
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray