SMCP (Sperm Mitochondria-Associated Cysteine-Rich Protein)
A key structural protein in sperm mitochondrial sheath formation and male fertility.
Gene Information Card
| Symbol | SMCP |
|---|---|
| Full Name | Sperm Mitochondria-Associated Cysteine-Rich Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 4184 ncbi.nlm.nih.gov/gene/4184 |
| Ensembl ID | ENSG00000163216 |
| UniProt ID | P49901 |
| OMIM ID | 601148 |
| HGNC ID | 11019 |
| Aliases | MCS, HSPB3 |
Description
SMCP encodes a cysteine-rich protein localized to the mitochondrial sheath of sperm flagellum. It is essential for sperm motility and structural integrity of the midpiece. Mutations in SMCP are associated with male infertility due to asthenozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (asthenozoospermia) | Disruption of mitochondrial sheath integrity impairs sperm motility | PMID: 12407110; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.104C>T (p.Pro35Leu) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable SMCP protein impair mitochondrial sheath assembly and sperm motility.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • sperm flagellum (GO:0036126) |
| • spermatogenesis (GO:0007283) | • protein binding (GO:0005515) |
Pathways
• Spermatogenesis (Reactome: R-HSA-72086)
• Mitochondrial sheath assembly (GO:0035046)
Protein Summary
SMCP is a 15.8 kDa cysteine-rich protein that localizes to the mitochondrial sheath of the sperm flagellum. It contains a conserved cysteine-rich domain that mediates disulfide cross-linking, providing structural stability to the helical arrangement of mitochondria. SMCP is essential for normal sperm motility and male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMCP Knockout HEK293 Cell Line | EDJ-KQ5189 | Human | 4184 | Details Get a Quote |
| SMCP Knockout HeLa Cell Line | EDJ-KQ53855 | Human | 4184 | Details Get a Quote |
| SMCP Knockout A-549 Cell Line | EDJ-KQ62342 | Human | 4184 | Details Get a Quote |
| SMCP Knockout HCT 116 Cell Line | EDJ-KQ70815 | Human | 4184 | Details Get a Quote |
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