SPECC1: Sperm Antigen with Calponin Homology and Coiled-Coil Domains 1
A centrosomal protein involved in cell division, cytoskeletal organization, and ciliogenesis; implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | SPECC1 |
|---|---|
| Full Name | sperm antigen with calponin homology and coiled-coil domains 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 92521 ncbi.nlm.nih.gov/gene/92521 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q5M775 |
| OMIM ID | 611675 |
| HGNC ID | 30615 |
| Aliases | HCMOGT-1, NYD-SP28, SPEC1, cytospin-A |
Description
SPECC1 encodes a centrosomal protein containing calponin homology and coiled-coil domains. It localizes to the centrosome and spindle poles, playing a role in microtubule organization, cell division, and ciliogenesis. The gene is expressed in multiple tissues and is implicated in certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and altered localization may contribute to centrosome amplification and aneuploidy | PMID: 21947068; COSMIC |
| Ovarian cancer | SPECC1 copy number gains and overexpression observed in high-grade serous ovarian carcinoma | PMID: 21720365; COSMIC |
| Primary microcephaly | Biallelic loss-of-function variants disrupt centrosome function, impairing neurogenesis | PMID: 28886341; ClinVar |
| Ciliopathy-related phenotypes | Defects in ciliogenesis due to SPECC1 dysfunction | PMID: 28886341 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 8.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical carcinoma cell line |
| MCF7 | 22.4 | Breast cancer cell line |
| K562 | 14.1 | Leukemia cell line |
| HEK293 | 9.6 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | Rare | Loss of function; associated with primary microcephaly |
| c.1486G>A (p.Gly496Arg) | Missense | Rare | Unknown significance; reported in ClinVar |
| c.1742_1743del (p.Glu581Valfs*12) | Frameshift | Rare | Loss of function; reported in developmental disorder |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated protein or nonsense-mediated decay, impairing centrosomal function and ciliogenesis.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may contribute to centrosome amplification.
Dominant Negative (DN)
Not established for SPECC1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Centrosome maturation and duplication
• Ciliogenesis
• Cell cycle
• mitotic
Protein Summary
SPECC1 is a 1003-amino-acid protein with an N-terminal calponin homology domain and a C-terminal coiled-coil region. It localizes to centrosomes and spindle poles, interacting with microtubules and actin. The protein is essential for proper centrosome duplication, spindle assembly, and primary cilium formation. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPECC1 Knockout HEK293 Cell Line | EDJ-KQ3718 | Human | 92521 | Details Get a Quote |
| SPECC1L Knockout HEK293 Cell Line | EDJ-KQ7997 | Human | 23384 | Details Get a Quote |
| SPECC1 Knockout A-549 Cell Line | EDJ-KQ25752 | Human | 92521 | Details Get a Quote |
| SPECC1 Knockout HCT 116 Cell Line | EDJ-KQ25753 | Human | 92521 | Details Get a Quote |
| SPECC1 Knockout HeLa Cell Line | EDJ-KQ25754 | Human | 92521 | 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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