• Gene id: 3094

Gene Summary

• Gene Symbol: HINT1   Gene   UCSC   Ensembl
• Aliases: HINT, NMAN, PKCI-1, PRKCNH1
• Gene name: histidine triad nucleotide binding protein 1
• Alternate names: histidine triad nucleotide-binding protein 1, adenosine 5'-monophosphoramidase, epididymis secretory sperm binding protein, protein kinase C inhibitor 1, protein kinase C-interacting protein 1,
• Gene location: 5q23.3 (131165347: 131159026)     Exons: 5     NC_000005.10
• Gene summary(Entrez): This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a
• OMIM: 601314

Protein Summary

• Protein general information: P49773  
  • Name: Histidine triad nucleotide binding protein 1 (EC 3. . . ) (Adenosine 5' monophosphoramidase) (Protein kinase C inhibitor 1) (Protein kinase C interacting protein 1) (PKCI 1)
  • Length: 126  
  • Mass: 13802
  • Tissue specificity: Widely expressed.
• Sequence:

  MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHISQISVAEDDDESLLG
  HLMIVGKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQMHWPPG

• Structural information:
  • Protein Domains: (18..12-)
    (/note="HIT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00464"-)
  • Interpro: IPR019808  IPR001310  IPR011146  IPR036265  
  • Prosite: PS00892 PS51084
  • PDB: 1AV5 1KPA 1KPB 1KPC 1KPE 1KPF 3TW2 4EQE 4EQG 4EQH 4ZKL 4ZKV 5ED3 5ED6 5EMT 5I2E 5I2F 5IPB 5IPC 5IPD 5IPE 5KLY 5KLZ 5KM0 5KM1 5KM2 5KM3 5KM4 5KM6 5KMA 5KMB 5KMC 5O8I 5WA8 5WA9 5WAA 6B42 6G9Z 6J53 6J58 6J5S 6J5Z 6J64 6J65 6N3V 6N3W 6N3X 6N3Y
  • PDBsum: 1AV5 1KPA 1KPB 1KPC 1KPE 1KPF 3TW2 4EQE 4EQG 4EQH 4ZKL 4ZKV 5ED3 5ED6 5EMT 5I2E 5I2F 5IPB 5IPC 5IPD 5IPE 5KLY 5KLZ 5KM0 5KM1 5KM2 5KM3 5KM4 5KM6 5KMA 5KMB 5KMC 5O8I 5WA8 5WA9 5WAA 6B42 6G9Z 6J53 6J58 6J5S 6J5Z 6J64 6J65 6N3V 6N3W 6N3X 6N3Y
  • STRING: ENSP00000304229
• Other Databases: GeneCards:  HINT1  Malacards:  HINT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0009154	purine ribonucleotide catabolic process	IBA	biological process
GO:0016787	hydrolase activity	IDA	molecular function
GO:0000118	histone deacetylase complex	IDA	cellular component
GO:0009154	purine ribonucleotide catabolic process	IDA	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005080	protein kinase C binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050850	positive regulation of calcium-mediated signaling	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Autosomal recessive neuromyotonia and axonal neuropathy	KEGG:H02390
Autosomal recessive neuromyotonia and axonal neuropathy	KEGG:H02390
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
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