TCP11L1: T-Complex 11 Like 1
A testis-enriched gene encoding a protein of unknown function, implicated in spermatogenesis and male fertility.
Gene Information Card
| Symbol | TCP11L1 |
|---|---|
| Full Name | T-Complex 11 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 55346 ncbi.nlm.nih.gov/gene/55346 |
| Ensembl ID | ENSG00000149131 |
| UniProt ID | Q8N5H7 |
| OMIM ID | 612003 |
| HGNC ID | 25521 |
| Aliases | FLJ10706, MGC138290 |
Description
TCP11L1 (T-Complex 11 Like 1) is a protein-coding gene located on chromosome 11q23.3. The encoded protein shares sequence similarity with TCP11, a testis-specific protein involved in sperm capacitation and acrosome reaction. TCP11L1 is predominantly expressed in testis and is thought to play a role in spermatogenesis and male fertility. Its exact molecular function remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Potential loss of TCP11L1 function may disrupt spermatogenesis, leading to reduced or absent sperm production. | Limited; supported by expression data and homology to TCP11. |
| Spermatogenic failure | Altered TCP11L1 expression or variants may impair sperm maturation. | Inferred from testis-specific expression and animal models. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.9 | Low |
| Prostate | 0.6 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Moderate expression |
| Testicular germ cell tumor (NTERA-2) | 8.4 | Moderate expression |
| HeLa | 0.1 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% (gnomAD) | Unknown; predicted damaging by in silico tools. |
| c.1022G>A (p.Arg341Gln) | Missense | <0.01% (gnomAD) | Unknown; rare variant of uncertain significance. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No known dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis (GO:0007283) | • male gamete generation (GO:0048232) |
| • cytoplasm (GO:0005737) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
The TCP11L1 protein is 441 amino acids long and contains a conserved domain of unknown function (DUF). It is predicted to localize to the cytoplasm and may interact with other testis-specific proteins. Its precise biochemical role is not yet characterized, but homology to TCP11 suggests involvement in sperm-egg fusion or acrosome reaction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCP11L1 Knockout HEK293 Cell Line | EDJ-KQ15667 | Human | 55346 | Details Get a Quote |
| TCP11L1 Knockout A-549 Cell Line | EDJ-KQ46567 | Human | 55346 | Details Get a Quote |
| TCP11L1 Knockout HCT 116 Cell Line | EDJ-KQ46568 | Human | 55346 | Details Get a Quote |
| TCP11L1 Knockout HeLa Cell Line | EDJ-KQ46569 | Human | 55346 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
