MEIKIN: Meiotic Kinetochore Factor
Essential regulator of meiotic chromosome segregation and kinetochore assembly
Gene Information Card
| Symbol | MEIKIN |
|---|---|
| Full Name | meiotic kinetochore factor |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 644973 ncbi.nlm.nih.gov/gene/644973 |
| Ensembl ID | ENSG00000145675 |
| UniProt ID | Q5T9S5 |
| OMIM ID | 617425 |
| HGNC ID | 33812 |
| Aliases | C5orf45, MGC45871, MGC45872 |
Description
MEIKIN (meiotic kinetochore factor) is a protein-coding gene that encodes a component of the meiotic kinetochore complex. It is specifically expressed in germ cells and plays a critical role in establishing proper kinetochore-microtubule attachments during meiosis I, ensuring accurate chromosome segregation. MEIKIN is essential for the monopolar attachment of sister kinetochores and for the protection of centromeric cohesion during the first meiotic division.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with azoospermia | Loss-of-function mutations in MEIKIN disrupt meiotic kinetochore assembly, leading to meiotic arrest and impaired spermatogenesis | PMID: 31003958 |
| Premature ovarian failure | MEIKIN deficiency in oocytes causes meiotic errors and oocyte depletion | PMID: 31003958 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Fallopian tube | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | N/A | Meiotic-specific expression |
| Oocytes | N/A | Meiotic-specific expression |
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.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
MEIKIN loss-of-function mutations cause meiotic arrest and infertility in both males and females.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • condensed chromosome kinetochore (GO:0000777) | • condensed chromosome (GO:0000779) |
| • nucleus (GO:0005634) | • chromosome segregation (GO:0007059) |
| • meiotic nuclear division (GO:0007126) | • male meiosis (GO:0007140) |
| • female meiosis (GO:0007141) | • gamete generation (GO:0007276) |
| • spermatogenesis (GO:0007283) | • female gamete generation (GO:0007292) |
| • regulation of meiotic cell cycle (GO:0010389) | • centromere complex assembly (GO:0034508) |
| • cell division (GO:0051301) | • establishment of chromosome localization (GO:0051303) |
| • metaphase plate congression (GO:0051310) | • meiotic cell cycle (GO:0051321) |
| • chromosome organization involved in meiotic cell cycle (GO:0070192) | • mitotic spindle assembly (GO:0090307) |
Pathways
• Meiotic recombination
• Cell cycle - meiosis
• Kinetochore assembly
Protein Summary
MEIKIN is a 251-amino acid protein localized to the kinetochore during meiosis I. It interacts with other kinetochore components such as MIS12 complex and NDC80 complex to establish monopolar attachment of sister kinetochores. MEIKIN is essential for protecting centromeric cohesin from separase cleavage until anaphase II. The protein contains a conserved N-terminal region required for kinetochore localization and a C-terminal region involved in protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEIKIN Knockout HEK293 Cell Line | EDJ-KQ14232 | Human | 728637 | Details Get a Quote |
| MEIKIN Knockout HeLa Cell Line | EDJ-KQ60718 | Human | 728637 | Details Get a Quote |
| MEIKIN Knockout A-549 Cell Line | EDJ-KQ69189 | Human | 728637 | Details Get a Quote |
| MEIKIN Knockout HCT 116 Cell Line | EDJ-KQ77544 | Human | 728637 | Details Get a Quote |