• Gene id: 79753

Gene Summary

• Gene Symbol: SNIP1   Gene   UCSC   Ensembl
• Aliases: PML1, PMRED
• Gene name: Smad nuclear interacting protein 1
• Alternate names: smad nuclear-interacting protein 1, FHA domain-containing protein SNIP1, PML1 homolog,
• Gene location: 1p34.3 (37554292: 37534448)     Exons: 4     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-b
• OMIM: 608241

Protein Summary

• Protein general information: Q8TAD8  
  • Name: Smad nuclear interacting protein 1 (FHA domain containing protein SNIP1)
  • Length: 396  
  • Mass: 45778
  • Tissue specificity: Ubiquitous, with highest expression in heart and skeletal muscle. {ECO
• Sequence:

  MKAVKSERERGSRRRHRDGDVVLPAGVVVKQERLSPEVAPPAHRRPDHSGGSPSPPTSEPARSGHRGNRARGVSR
  SPPKKKNKASGRRSKSPRSKRNRSPHHSTVKVKQEREDHPRRGREDRQHREPSEQEHRRARNSDRDRHRGHSHQR
  RTSNERPGSGQGQGRDRDTQNLQAQEEEREFYNARRREHRQRNDVGGGGSESQELVPRPGGNNKEKEVPAKEKPS
  FELSGALLEDTNTFRGVVIKYSEPPEARIPKKRWRLYPFKNDEVLPVMYIHRQSAYLLGRHRRIADIPIDHPSCS
  KQHAVFQYRLVEYTRADGTVGRRVKPYIIDLGSGNGTFLNNKRIEPQRYYELKEKDVLKFGFSSREYVLLHESSD
  TSEIDRKDDEDEEEEEEVSDS

• Structural information:
  • Protein Domains: (281..34-)
    (/note="FHA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00086"-)
  • Interpro: IPR000253  IPR008984  
  • Prosite: PS50006
  • CDD: cd00060
  • PDB: 5Z56 5Z57 5Z58 6FF7
  • PDBsum: 5Z56 5Z57 5Z58 6FF7
  • DIP: 38956
  • STRING: ENSP00000296215
• Other Databases: GeneCards:  SNIP1  Malacards:  SNIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003729	mRNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0035196	production of miRNAs involved in gene silencing by miRNA	IBA	biological process
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0035196	production of miRNAs involved in gene silencing by miRNA	IMP	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq