SPZ1 spermatogenic leucine zipper 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPZ1provided by HGNC
Official Full Name: spermatogenic leucine zipper 1provided by HGNC
Primary source: HGNC:HGNC:30721
See related: Ensembl:ENSG00000164299 MIM:618068; AllianceGenome:HGNC:30721
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CILD38; NYD-TSP1; PPP1R148
Summary: 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-induced tumor treatments. [provided by RefSeq, Oct 2011]
Orthologs: mouse all
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Genomic context

Location:: 5q14.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (80320002..80321842)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (80803970..80805810)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (79615821..79617661)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TSP1 is the essential domain of SEMA5A involved in pannus formation in rheumatoid arthritis.
Title: TSP1 is the essential domain of SEMA5A involved in pannus formation in rheumatoid arthritis.
SPZ1 promotes glioma aggravation via targeting CXXC4.
Title: SPZ1 promotes glioma aggravation via targeting CXXC4.
SPZ1 promotes deregulation of Bim to boost apoptosis resistance in colorectal cancer.
Title: SPZ1 promotes deregulation of Bim to boost apoptosis resistance in colorectal cancer.
Tip60 mediates acetylation at lysine residues of SPZ1 at positions 369 and 374 which are required for SPZ1-TWIST1 complex formation and cancer cell migration in vitro and in vivo.
Title: TIP60-dependent acetylation of the SPZ1-TWIST complex promotes epithelial-mesenchymal transition and metastasis in liver cancer.
SPZ1 promotes epithelial-mesenchymal transition (EMT) by trans-activating the gene of TWIST1. A clinical analysis showed a marker association of SPZ1 and TWIST1 with induction of tumorigenesis in HCC patients.
Title: Transcription factor SPZ1 promotes TWIST-mediated epithelial-mesenchymal transition and oncogenesis in human liver cancer.
highly expressed in adult testis; may play an important role in spermatogenesis in the humans
Title: Expression of a novel bHLH-Zip gene in human testis.

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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

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	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: spermatogenic leucine zipper protein 1

Names: protein phosphatase 1, regulatory subunit 148; spermatogenic zip 1; testis secretory sperm-binding protein Li 232m; testis-specific protein 1

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.