SAMD11 Gene - Sterile Alpha Motif Domain Containing 11
Comprehensive genomic and functional analysis of SAMD11, a gene encoding a sterile alpha motif domain-containing protein with roles in cell signaling and potential implications in cancer and developmental disorders.
Gene Information Card
| Symbol | SAMD11 |
|---|---|
| Full Name | Sterile Alpha Motif Domain Containing 11 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 148398 ncbi.nlm.nih.gov/gene/148398 |
| Ensembl ID | ENSG00000187634 |
| UniProt ID | Q96NU1 |
| OMIM ID | 618453 |
| HGNC ID | 28718 |
| Aliases | FLJ10891, MGC138290, SAM domain-containing protein 11 |
Description
SAMD11 (Sterile Alpha Motif Domain Containing 11) is a protein-coding gene located on chromosome 1p36.33. The encoded protein contains a sterile alpha motif (SAM) domain, which is involved in protein-protein interactions and may play roles in signal transduction, transcriptional regulation, and cellular differentiation. SAMD11 is expressed in various tissues and has been implicated in cancer and developmental disorders through genomic alterations and expression changes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | SAMD11 is located in a region frequently deleted in cancers; loss of SAMD11 may contribute to tumorigenesis via disrupted signaling. | COSMIC; NCBI Gene |
| Developmental disorders | Deletions at 1p36.33 including SAMD11 are associated with neurodevelopmental phenotypes. | OMIM; ClinVar |
| Breast cancer | Reduced SAMD11 expression observed in breast cancer samples; potential tumor suppressor role. | NCBI Gene; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| MCF7 | 5.4 | Breast cancer cells |
| A549 | 6.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential start codon loss; functional impact unknown |
| c.100C>T | Nonsense | <0.01% | Premature truncation; likely loss of function |
| c.250_251del | Frameshift | <0.01% | Frameshift; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in SAMD11 are predicted to result in loss of protein function, potentially contributing to disease phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SAMD11.
Dominant Negative (DN)
No dominant-negative mutations have been described for SAMD11.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signal transduction |
| • cell differentiation | • nucleus |
| • cytoplasm |
Pathways
• Not assigned to any specific pathway in major databases.
Protein Summary
The SAMD11 protein (UniProt Q96NU1) contains a sterile alpha motif (SAM) domain, which mediates protein-protein interactions. It is predicted to localize to the nucleus and cytoplasm and may participate in signaling pathways regulating cell growth and differentiation. The exact biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMD11 Knockout HEK293 Cell Line | EDJ-KQ10758 | Human | 148398 | Details Get a Quote |
| SAMD11 Knockout A-549 Cell Line | EDJ-KQ38362 | Human | 148398 | Details Get a Quote |
| SAMD11 Knockout HeLa Cell Line | EDJ-KQ38363 | Human | 148398 | Details Get a Quote |
| SAMD11 Knockout HCT 116 Cell Line | EDJ-KQ75498 | Human | 148398 | Details Get a Quote |
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