Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84221
MIM: 612412
HGNC: 1298
Ensembl: ENSG00000160284
Variants:
dbSNP: 84221
ClinVar: 84221
TCGA: ENSG00000160284
COSMIC: SPATC1L
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000160284 | ENST00000291672 | Q9H0A9 |
| ENSG00000160284 | ENST00000330205 | Q9H0A9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37625567 | 2023 | Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage. | 0 |
| 37625567 | 2023 | Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage. | 0 |
| 34213489 | 2022 | Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility. | 5 |
| 34213489 | 2022 | Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility. | 5 |
| 33152445 | 2021 | PTSD is associated with increased DNA methylation across regions of HLA-DPB1 and SPATC1L. | 10 |
| 33152445 | 2021 | PTSD is associated with increased DNA methylation across regions of HLA-DPB1 and SPATC1L. | 10 |
| 30177775 | 2019 | Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. | 9 |
| 30177775 | 2019 | Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. | 9 |
| 30026308 | 2018 | SPATC1L maintains the integrity of the sperm head-tail junction. | 20 |
| 30026308 | 2018 | SPATC1L maintains the integrity of the sperm head-tail junction. | 20 |
| 28339009 | 2017 | Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies. | 7 |
| 28849223 | 2017 | Identification of TNFSF13, SPATC1L, SLC22A25 and SALL4 as novel susceptibility loci for atrial fibrillation by an exome‑wide association study. | 5 |
| 28339009 | 2017 | Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies. | 7 |
| 28849223 | 2017 | Identification of TNFSF13, SPATC1L, SLC22A25 and SALL4 as novel susceptibility loci for atrial fibrillation by an exome‑wide association study. | 5 |
Citation
Dessen P
SPATC1L (spermatogenesis and centriole associated 1 like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74149/spatc1l-(spermatogenesis-and-centriole-associated-1-like)
