SPECC1L
Sperm Antigen with Calponin Homology and Coiled-Coil Domains 1-Like
Gene Information Card
| Symbol | SPECC1L |
|---|---|
| Full Name | Sperm Antigen with Calponin Homology and Coiled-Coil Domains 1-Like |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 23384 ncbi.nlm.nih.gov/gene/23384 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q69YQ0 |
| OMIM ID | 614143 |
| HGNC ID | 29022 |
| Aliases | CYTSB, HCMOGT-1, MGC138290, SPECC1L-1 |
Description
SPECC1L encodes a protein with calponin homology (CH) and coiled-coil domains, involved in cytoskeletal organization, cell adhesion, and migration. It localizes to the centrosome and microtubule organizing center, playing a role in spindle orientation and cell division. Mutations in SPECC1L are associated with orofacial clefts and obesity-related traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Orofacial cleft (cleft lip/palate) | Disrupted cytoskeletal dynamics and cell migration during palatal fusion | OMIM #614143; ClinVar |
| Obesity (body mass index variation) | Altered adipocyte differentiation or energy homeostasis | GWAS catalog; NCBI GeneRIF |
| Spermatogenic failure | Potential role in sperm flagellum formation | UniProt annotation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Adipose tissue | 12.8 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical carcinoma |
| HEK 293 | 22.1 | Embryonic kidney |
| K562 | 9.7 | Leukemia |
| HepG2 | 7.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | Rare (0.0004 in gnomAD) | Impaired centrosome localization; associated with cleft palate |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Altered microtubule binding; reported in obesity GWAS |
| c.1687_1688del (p.Leu563fs) | Frameshift | Very rare | Loss of coiled-coil domain; predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein, disrupting CH or coiled-coil domains, leading to loss of cytoskeletal function.
Gain of Function (GOF)
Not well documented; no activating mutations reported in literature.
Dominant Negative (DN)
Missense variants (e.g., p.Arg339Cys) may interfere with wild-type protein localization, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton | • centrosome |
| • microtubule organizing center | • cell division |
| • cell migration | • calponin homology domain |
| • coiled-coil domain |
Pathways
• Cytoskeletal regulation by Rho GTPase
• Cell cycle
• mitotic
• Adherens junction
Protein Summary
SPECC1L is a 1,044-amino-acid protein containing an N-terminal calponin homology (CH) domain and a C-terminal coiled-coil region. It localizes to the centrosome and microtubule cytoskeleton, where it regulates spindle orientation and cell migration. The protein is highly expressed in testis and adipose tissue, and its dysfunction contributes to developmental defects (cleft palate) and metabolic traits (obesity).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPECC1L Knockout HEK293 Cell Line | EDJ-KQ7997 | Human | 23384 | Details Get a Quote |
| SPECC1L Knockout HeLa Cell Line | EDJ-KQ32403 | Human | 23384 | Details Get a Quote |
| SPECC1L Knockout A-549 Cell Line | EDJ-KQ33739 | Human | 23384 | Details Get a Quote |
| SPECC1L Knockout HCT 116 Cell Line | EDJ-KQ33740 | Human | 23384 | Details Get a Quote |
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