SPZ1 (spermatogenic leucine zipper 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84654
Gene name Gene Name - the full gene name approved by the HGNC.
Spermatogenic leucine zipper 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPZ1
Synonyms (NCBI Gene) Gene synonyms aliases
CILD38, NYD-TSP1, PPP1R148
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-ind
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT019357 hsa-miR-148b-3p Microarray 17612493
MIRT1387442 hsa-miR-3171 CLIP-seq
MIRT1387443 hsa-miR-3668 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 31515488, 32296183, 33961781, 35140242
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618068 30721 ENSG00000164299
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9BXG8
Protein name Spermatogenic leucine zipper protein 1 (Testis-specific protein 1) (Testis-specific protein NYD-TSP1)
Protein function Transcription factor that binds to the DNA sequence 5'-CANNTG-3'(E box) and the G-box motif. May play an important role in the regulation of cell proliferation and differentiation during spermatogenesis (By similarity).
Family and domains
Tissue specificity TISSUE SPECIFICITY: Specifically and strongly expressed in the testis. Expressed in several tumor cell lines. {ECO:0000269|PubMed:12778315, ECO:0000269|PubMed:15899793}.
Sequence 
MASSAKSAEMPTISKTVNPTPDPHQEYLDPRITIALFEIGSHSPSSWGSLPFLKNSSHQV
TEQQTAQKFNNLLKEIKDILKNMAGFEEKITEAKELFEETNITEDVSAHKENIRGLDKIN
EMLSTNLPVSLAPEKEDNEKKQEMILETNITEDVSAHKENIRGLDKINEMLSTNLPVSLA
PEKEDNEKKQQMIMENQNSENTAQVFARDLVNRLEEKKVLNETQQSQEKAKNRLNVQEET
MKIRNNMEQLLQEAEHWSKQHTELSKLIKSYQKSQKDISETLGNNGVGFQTQPNNEVSAK
HELEEQVKKLSHDTYSLQLMAALLENECQILQQRVEILKELHHQKQGTLQEKPIQINYKQ
DKKNQKPSEAKKVEMYKQNKQAMKGTFWKKDRSCRSLDVCLNKKACNTQFNIHVARKALR
GKMRSASSLR
Sequence length 430
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Postmenopausal breast cancer N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 28368406
Carcinoma Hepatocellular Associate 28368406
Colorectal Neoplasms Associate 32686686, 35627192
Glioma Associate 34076982
Infertility Male Associate 16759931
Myocardial Infarction Associate 29381915
Neoplasms Associate 28368406
Testicular Neoplasms Associate 35627192