MOSPD1: Motile Sperm Domain-Containing Protein 1
A gene encoding a protein involved in vesicular trafficking and potential roles in spermatogenesis and cancer.
Gene Information Card
| Symbol | MOSPD1 |
|---|---|
| Full Name | Motile Sperm Domain-Containing Protein 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 64220 ncbi.nlm.nih.gov/gene/64220 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | Q8WXH0 |
| OMIM ID | 300696 |
| HGNC ID | 28678 |
| Aliases | MGC13170, dJ1187M17.1 |
Description
MOSPD1 (Motile Sperm Domain-Containing Protein 1) is a protein-coding gene located on the X chromosome. The encoded protein contains a motile sperm domain (MSD) and is implicated in vesicular trafficking, particularly in the endosomal system. It is expressed in multiple tissues, with notable levels in testis, and may play a role in spermatogenesis. Alterations in MOSPD1 expression have been observed in certain cancers, though its precise pathological roles remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression; potential role in tumorigenesis | COSMIC; limited functional studies |
| Male infertility (spermatogenic failure) | Disruption of vesicular trafficking in sperm development | Expression data; inferred from domain function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.2 | Cervical cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| K562 | 6.0 | Leukemia cell line |
| A549 | 5.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • vesicle-mediated transport | • endosomal transport |
| • protein binding | • membrane |
Pathways
• Endosomal trafficking pathway (inferred)
Protein Summary
The MOSPD1 protein (UniProt Q8WXH0) is a 244-amino acid transmembrane protein containing a motile sperm domain (MSD). It localizes to endosomal membranes and is involved in vesicular trafficking, likely regulating endosome-to-lysosome transport. Its expression in testis suggests a role in sperm motility or maturation, but detailed functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MOSPD1 Knockout HEK293 Cell Line | EDJ-KQ14290 | Human | 56180 | Details Get a Quote |
| MOSPD1 Knockout A-549 Cell Line | EDJ-KQ44340 | Human | 56180 | Details Get a Quote |
| MOSPD1 Knockout HCT 116 Cell Line | EDJ-KQ44341 | Human | 56180 | Details Get a Quote |
| MOSPD1 Knockout HeLa Cell Line | EDJ-KQ44342 | Human | 56180 | Details Get a Quote |
