• Gene id: 4863

Gene Summary

• Gene Symbol: NPAT   Gene   UCSC   Ensembl
• Aliases: E14, E14/NPAT, p220
• Gene name: nuclear protein, coactivator of histone transcription
• Alternate names: protein NPAT, nuclear protein of the ATM locus, nuclear protein of the ataxia telangiectasia mutated locus, nuclear protein, ataxia-telangiectasia locus, nuclear protein, co-activator of histone transcription,
• Gene location: 11q22.3 (108222637: 108155279)     Exons: 20     NC_000011.10
• OMIM: 601448

SNPs

rs189037

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.108223106G>A
NC_000011.9   g.108093833G>A
NG_009830.1   g.5275G>A
NM_000051.4   c.-111G>A
NM_000051.3   c.-111G>A
NM_001351834.2   c.-199G>A
NM_001351834.1   c.-199G>A
NM_001351835.1   c.-111G>A
XM_011542844.3   c.-1133G>A
XM_011542842.3   c.-111G>A
XM_  

Protein Summary

• Protein general information: Q14207  
  • Name: Protein NPAT (Nuclear protein of the ataxia telangiectasia mutated locus) (Nuclear protein of the ATM locus) (p220)
  • Length: 1427  
  • Mass: 154290
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MLLPSDVARLVLGYLQQENLISTCQTFILESSDLKEYAEHCTDEGFIPACLLSLFGKNLTTILNEYVAMKTKETS
  NNVPAIMSSLWKKLDHTLSQIRSMQSSPRFAGSQRARTRTGIAEIKRQRKLASQTAPASAELLTLPYLSGQFTTP
  PSTGTQVTRPSGQISDPSRSYFVVVNHSQSQDTVTTGEALNVIPGAQEKKAHASLMSPGRRKSESQRKSTTLSGP
  HSTIRNFQDPNAFAVEKQMVIENAREKILSNKSLQEKLAENINKFLTSDNNIAQVPKQTDNNPTEPETSIDEFLG
  LPSEIHMSEEAIQDILEQTESDPAFQALFDLFDYGKTKNNKNISQSISSQPMESNPSIVLADETNLAVKGSFETE
  ESDGQSGQPAFCTSYQNDDPLNALKNSNNHDVLRQEDQENFSQISTSIQKKAFKTAVPTEQKCDIDITFESVPNL
  NDFNQRGNSNAECNPHCAELYTNQMSTETEMAIGIEKNSLSSNVPSESQLQPDQPDIPITSFVSLGCEANNENLI
  LSGKSSQLLSQDTSLTGKPSKKSQFCENSNDTVKLKINFHGSKSSDSSEVHKSKIEINVLEPVMSQLSNCQDNSC
  LQSEILPVSVESSHLNVSGQVEIHLGDSLSSTKQPSNDSASVELNHTENEAQASKSENSQEPSSSVKEENTIFLS
  LGGNANCEKVALTPPEGTPVENSHSLPPESVCSSVGDSHPESQNTDDKPSSNNSAEIDASNIVSLKVIISDDPFV
  SSDTELTSAVSSINGENLPTIILSSPTKSPTKNAELVKCLSSEETVGAVVYAEVGDSASMEQSLLTFKSEDSAVN
  NTQNEDGIAFSANVTPCVSKDGGYIQLMPATSTAFGNSNNILIATCVTDPTALGTSVSQSNVVVLPGNSAPMTAQ
  PLPPQLQTPPRSNSVFAVNQAVSPNFSQGSAIIIASPVQPVLQGMVGMIPVSVVGQNGNNFSTPPRQVLHMPLTA
  PVCNRSIPQFPVPPKSQKAQGLRNKPCIGKQVNNLVDSSGHSVGCHAQKTEVSDKSIATDLGKKSEETTVPFPEE
  SIVPAAKPCHRRVLCFDSTTAPVANTQGPNHKMVSQNKERNAVSFPNLDSPNVSSTLKPPSNNAIKREKEKPPLP
  KILSKSESAISRHTTIRETQSEKKVSPTEIVLESFHKATANKENELCSDVERQKNPENSKLSIGQQNGGLRSEKS
  IASLQEMTKKQGTSSNNKNVLSVGTAVKDLKQEQTKSASSLITTEMLQDIQRHSSVSRLADSSDLPVPRTPGSGA
  GEKHKEEPIDIIKAPSSRRFSEDSSTSKVMVPPVTPDLPACSPASETGSENSVNMAAHTLMILSRAAISRTTSAT
  PLKDNTQQFRASSRSTTKKRKIEELDERERNSRPSSKNLTNSSIPMKKKKIKKKKLPSSFPAGMDVDKFLLSLHY
  DE

• Structural information:
  • Protein Domains: (3..3-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126"-)
  • Interpro: IPR006594  IPR031442  
  • Prosite: PS50896
  • DIP: 59961
  • STRING: ENSP00000278612
• Other Databases: GeneCards:  NPAT  Malacards:  NPAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle	IBA	biological process
GO:0003712	transcription coregulator activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0097504	Gemini of coiled bodies	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle	IMP	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0010468	regulation of gene expression	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003714	transcription corepressor activity	IMP	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray