TNP1 transition protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNP1provided by HGNC
Official Full Name: transition protein 1provided by HGNC
Primary source: HGNC:HGNC:11951
See related: Ensembl:ENSG00000118245 MIM:190231; AllianceGenome:HGNC:11951
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TP1
Summary: 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 OMIM, Mar 2008]
Expression: Restricted expression toward testis (RPKM 903.2) See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (216859458..216860064, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (217341898..217342504, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (217724181..217724787, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2.
Title: Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2.
Among Systemic lupus erythematosus patients, 63.6% and 45.5% of those with lupus nephritis were positive for anti-RRP8 and anti-TNP1 antibodies, compared with 12.5% and 9.4% of Systemic lupus erythematosus patients without nephritis, respectively.
Title: Novel Autoantigens Associated with Lupus Nephritis.
frequency of the haplotype GCG (H3) was increased in azoospermic men compared with fertile men. expression analysis of the TNP1 gene in obstructive azoospermic men showed that haplotypes of the TNP1 gene do not affect its expression level.
Title: The TNP1 haplotype - GCG is associated with azoospermia.
The presence of transition proteins (TP1 and/or TP2) in spermatids in semen indicates inhibition in the differentiation pathway from round spermatids to spermatozoa in infertile men.
Title: Spermiogenesis defects in human: detection of transition proteins in semen from some infertile men.
The TNP1 contributes not only to successful fertilization, but may has an important impact in development of preimplantation embryos.
Title: Association between fertilin beta, protamines 1 and 2 and spermatid-specific linker histone H1-like protein mRNA levels, fertilization ability of human spermatozoa, and quality of preimplantation embryos.
Observational study of gene-disease association. (HuGE Navigator)
Title: The TNP1 haplotype - GCG is associated with azoospermia.
We found significantly lower levels of HILS1, TNP1, and TNP2 transcripts in spermatozoa from asthenozoospermic men compared to normozoospermic men.
Title: Quantitative assessment of transition proteins 1, 2 spermatid-specific linker histone H1-like protein transcripts in spermatozoa from normozoospermic and asthenozoospermic men.
a deletion of 15 nucleotides encompassing the recognition site for the cAMP response element transcription factor was found in the 5'-promoter region of the TNP1 gene in infertile men; this deletion reduces TNP1 expression and may cause infertility
Title: Single-nucleotide polymorphisms and mutation analyses of the TNP1 and TNP2 genes of fertile and infertile human male populations.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies four loci associated with eruption of permanent teeth. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterochromatin formation	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleosome disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in sexual reproduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in single strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in sperm DNA condensation	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm DNA decondensation	TAS Traceable Author Statement more info	PubMed
involved_in spermatid development	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatid nucleus differentiation	TAS Traceable Author Statement more info	PubMed
involved_in spermatid nucleus elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatid nucleus elongation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in male germ cell nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleosome	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: spermatid nuclear transition protein 1

Names: STP-1; TP-1; transition protein 1 (during histone to protamine replacement)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.