Gene Gene information from NCBI Gene database.
Entrez ID 222659
Gene name Peroxisomal testis enriched protein 1
Gene symbol PXT1
Synonyms (NCBI Gene)
STEPP
Chromosome 6
Chromosome location 6p21.31
miRNA miRNA information provided by mirtarbase database.
52
miRTarBase ID miRNA Experiments Reference
MIRT1279246 hsa-let-7a CLIP-seq
MIRT1279247 hsa-let-7b CLIP-seq
MIRT1279248 hsa-let-7c CLIP-seq
MIRT1279249 hsa-let-7d CLIP-seq
MIRT1279250 hsa-let-7e CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005777 Component Peroxisome IEA
GO:0005777 Component Peroxisome ISS 18160785
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFP0
Protein name Peroxisomal testis-specific protein 1 (Small testis-specific peroxisomal protein)
PDB 7WJH , 8GSV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15214 PXT1 84 134 Peroxisomal testis-specific protein 1 Family
Sequence
MKKKHDGIVYETKEVLNPSPKVTHCCKSLWLKYSFQKAYMTQLVSSQPVPAMSRNPDHNL
LSQPKEHSIVQKHHQEEIIHKLAMQLRHIGDNIDHRMVREDLQQDGRDALDHFVFFFFRR
VQVLLHFFWNNHLL
Sequence length 134
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MULTIPLE SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations