• Gene id: 23300

Gene Summary

• Gene Symbol: ATMIN   Gene   UCSC   Ensembl
• Aliases: ASCIZ, ZNF822
• Gene name: ATM interactor
• Alternate names: ATM interactor, ATM INteracting protein, ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein, ATM/ATR-substrate CHEK2-interacting zinc finger protein, ATM/ATR-substrate CHK2-interacting zinc finger protein, zinc finger protein 822,
• Gene location: 16q23.2 (81035841: 81047349)     Exons: 5     NC_000016.10
• OMIM: 614693

Protein Summary

• Protein general information: O43313  
  • Name: ATM interactor (ATM/ATR substrate CHK2 interacting zinc finger protein) (ASCIZ) (Zinc finger protein 822)
  • Length: 823  
  • Mass: 88348
  • Tissue specificity: Ubiquitously expressed in normal tissues and cancer cell lines with highest levels in placenta and skeletal muscle. {ECO
• Sequence:

  MAASEAAAAAGSAALAAGARAVPAATTGAAAAASGPWVPPGPRLRGSRPRPAGATQQPAVPAPPAGELIQPSVSE
  LSRAVRTNILCTVRGCGKILPNSPALNMHLVKSHRLQDGIVNPTIRKDLKTGPKFYCCPIEGCPRGPERPFSQFS
  LVKQHFMKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFRCTCGCPYASRTALQSHIYRTGHEIPAEHRDPPS
  KKRKMENCAQNQKLSNKTIESLNNQPIPRPDTQELEASEIKLEPSFEDSCGSNTDKQTLTTPPRYPQKLLLPKPK
  VALVKLPVMQFSVMPVFVPTADSSAQPVVLGVDQGSATGAVHLMPLSVGTLILGLDSEACSLKESLPLFKIANPI
  AGEPISTGVQVNFGKSPSNPLQELGNTCQKNSISSINVQTDLSYASQNFIPSAQWATADSSVSSCSQTDLSFDSQ
  VSLPISVHTQTFLPSSKVTSSIAAQTDAFMDTCFQSGGVSRETQTSGIESPTDDHVQMDQAGMCGDIFESVHSSY
  NVATGNIISNSLVAETVTHSLLPQNEPKTLNQDIEKSAPIINFSAQNSMLPSQNMTDNQTQTIDLLSDLENILSS
  NLPAQTLDHRSLLSDTNPGPDTQLPSGPAQNPGIDFDIEEFFSASNIQTQTEESELSTMTTEPVLESLDIETQTD
  FLLADTSAQSYGCRGNSNFLGLEMFDTQTQTDLNFFLDSSPHLPLGSILKHSSFSVSTDSSDTETQTEGVSTAKN
  IPALESKVQLNSTETQTMSSGFETLGSLFFTSNETQTAMDDFLLADLAWNTMESQFSSVETQTSAEPHTVSNF

• Structural information:
  • Interpro: IPR013087  
  • Prosite: PS00028
  • STRING: ENSP00000299575
• Other Databases: GeneCards:  ATMIN  Malacards:  ATMIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0070840	dynein complex binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0044458	motile cilium assembly	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:1902857	positive regulation of non-motile cilium assembly	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq