SPOCD1
SPOC Domain Containing 1
Gene Information Card
| Symbol | SPOCD1 |
|---|---|
| Full Name | SPOC domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.2 |
| NCBI Gene ID | 90853 ncbi.nlm.nih.gov/gene/90853 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 615878 |
| HGNC ID | 28737 |
| Aliases | C1orf164, MSTP143, SPOC1 |
Description
SPOCD1 encodes a protein containing a SPOC (Spen paralog and ortholog C-terminal) domain, which is involved in chromatin regulation and transcriptional repression. The protein is thought to interact with histone deacetylase complexes and may play a role in gene silencing, cell cycle control, and development. SPOCD1 is expressed in various tissues and has been implicated in several cancers, though its precise functions remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote proliferation and metastasis; potential oncogene | COSMIC; literature |
| Colorectal cancer | Upregulated; associated with poor prognosis and tumor progression | COSMIC; literature |
| Lung cancer | Altered expression observed; functional role unclear | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Thyroid | 10.1 | Medium |
| Prostate | 8.5 | Medium |
| Lung | 6.3 | Low |
| Breast | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney |
| HeLa | 9.7 | Cervical carcinoma |
| MCF7 | 7.2 | Breast cancer |
| A549 | 6.8 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown significance; rare in population |
| c.1423G>A (p.Glu475Lys) | Missense | <0.01% | Unknown significance; rare in population |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in major databases.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • transcription corepressor activity |
| • nucleus | • regulation of transcription |
| • DNA-templated |
Pathways
• Chromatin organization
• Transcriptional repression by histone deacetylase
Protein Summary
SPOCD1 is a 669-amino acid protein with a SPOC domain at the C-terminus. It localizes to the nucleus and is involved in chromatin remodeling and transcriptional repression. The protein may interact with HDAC complexes to modulate gene expression. Its expression is highest in testis and thyroid, with lower levels in other tissues. SPOCD1 has been linked to cancer progression, but detailed mechanistic studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPOCD1 Knockout HEK293 Cell Line | EDJ-KQ2179 | Human | 90853 | Details Get a Quote |
| SPOCD1 Knockout HCT 116 Cell Line | EDJ-KQ17951 | Human | 90853 | Details Get a Quote |
| SPOCD1 Knockout A-549 Cell Line | EDJ-KQ22396 | Human | 90853 | Details Get a Quote |
| SPOCD1 Knockout HeLa Cell Line | EDJ-KQ22397 | Human | 90853 | Details Get a Quote |
