• Gene id: 7141

Gene Summary

• Gene Symbol: TNP1   Gene   UCSC   Ensembl
• Aliases: TP1
• Gene name: transition protein 1
• Alternate names: spermatid nuclear transition protein 1, STP-1, TP-1, transition protein 1 (during histone to protamine replacement),
• Gene location: 2q35 (11269302: 11267856)     Exons: 2     NC_000016.10
• Gene summary(Entrez): Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by O
• OMIM: 190231

SNPs

rs62180545

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

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

Protein Summary

• Protein general information: P09430  
  • Name: Spermatid nuclear transition protein 1 (STP 1) (TP 1)
  • Length: 55  
  • Mass: 6,424
• Sequence:

  MSTSRKLKSHGMRRSKSRSPHKGVKRGGSKRKYRKGNLKSRKRGDDANRNYRSHL

• Structural information:
  • Interpro: IPR001319  IPR020062  
  • Prosite: PS00541
  • STRING: ENSP00000236979
• Other Databases: GeneCards:  TNP1  Malacards:  TNP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000012	single strand break repair	IDA	biological process
GO:0000786	nucleosome	IDA	cellular component
GO:0001673	male germ cell nucleus	IBA	cellular component
GO:0003677	DNA binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006337	nucleosome disassembly	IMP	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006342	chromatin silencing	IEP	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007286	spermatid development	IDA	biological process
GO:0007289	spermatid nucleus differentiation	TAS	biological process
GO:0007290	spermatid nucleus elongation	IMP	biological process
GO:0019953	sexual reproduction	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0035042	fertilization, exchange of chromosomal proteins	TAS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000012	single strand break repair	IDA	biological process
GO:0000786	nucleosome	IEA	cellular component
GO:0000786	nucleosome	IEA	cellular component
GO:0000786	nucleosome	IDA	cellular component
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0001673	male germ cell nucleus	IBA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006337	nucleosome disassembly	IMP	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006342	chromatin silencing	IEP	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007286	spermatid development	IDA	biological process
GO:0007289	spermatid nucleus differentiation	TAS	biological process
GO:0007290	spermatid nucleus elongation	IMP	biological process
GO:0019953	sexual reproduction	IMP	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0035042	fertilization, exchange of chromosomal proteins	TAS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000012	single strand break repair	IDA	biological process
GO:0000786	nucleosome	IDA	cellular component
GO:0001673	male germ cell nucleus	IBA	cellular component
GO:0003677	DNA binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006337	nucleosome disassembly	IMP	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006342	chromatin silencing	IEP	biological process
GO:0007286	spermatid development	IDA	biological process
GO:0007289	spermatid nucleus differentiation	TAS	biological process
GO:0007290	spermatid nucleus elongation	IMP	biological process
GO:0019953	sexual reproduction	IMP	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0035042	fertilization, exchange of chromosomal proteins	TAS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process

Diseases

Associated diseases	References
Asthenozoospermia	MIK: 17852044
Male factor infertility	MIK: 16989827
Azoospermia	MIK: 20522125
Odontogenesis	GAD: 20195514
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Asthenozoospermia	MIK: 17852044
Male infertility	MIK: 16291974
Azoospermia	MIK: 20522125
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16989827	Male infertility			288 (96 fertile men, 96 severely infertile men, and 96 infertility patients)	Male infertility
17852044	Asthenozoospermia			170 (70 normozoospermia, 100 asthenozoospermia)	Male infertility	HILS1 TNP1 and TNP2
21425891	Male infertility	PRM2 (c.443C?>?A), TNP1 ((c.396_397InsT) at the 3' UTR)		200 (100 oligozoospermic infertile men, 100 fertile controls)	Male infertility	PRM2
20522125	Male infertility, azoospermia	TNP1 (g.-688A>T), TNP2 (g.1030G>A)		600 (320 infertile men, 280 control fertile men)	Male infertility	TNP1 TNP2
16291974	Male infertility			818 (282 sterile male patients, 270 (TNP1), 266 (TNP2) proven-fertile male volunteers)	Male infertility	TNP1 TNP2
20675388	Associated wih sperm production and male fertility				Male infertility
17943087	Role in spermatogenesis				Male infertility
14680821	Associated with delayed spermatogenesis				Male infertility
10781074	Reduced fertility				Male infertility
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R