Q05738
Gene name |
Sry (Tdf, Tdy) |
Protein name |
Sex-determining region Y protein |
Names |
Testis-determining factor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
mmu:21674 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
0-85 (HMG box domain) |
Relief mechanism |
|
Assay |
|
Accessory elements
No accessory elements
References
Autoinhibited structure
Activated structure
1 structures for Q05738
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q05738-F1 | Predicted | AlphaFoldDB |
7 variants for Q05738
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| 63 | I>T | strain: Torino [UniProt] | No | ||
| 133 | W>L | strain: Torino [UniProt] | No | ||
| 143 | L>P | strain: Torino [UniProt] | No | ||
| 169 | H>del | strain: Torino [UniProt] | No | ||
| 209 | H>Q | strain: Torino [UniProt] | No | ||
| 211 | E>Q | strain: Torino [UniProt] | No | ||
| 235 | Q>del | strain: Torino [UniProt] | No |
1 associated diseases with Q05738
[MIM: 617156]: Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15)
An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. {ECO:0000269|PubMed:27448789}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. {ECO:0000269|PubMed:27448789}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA binding, bending | The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| anatomical structure morphogenesis | The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| male sex determination | The specification of male sex of an individual organism. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| sex determination | Any process that establishes and transmits the specification of sexual status of an individual organism. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48435 | SOX11 | Transcription factor SOX-11 | Gallus gallus (Chicken) | SS |
| P48436 | SOX9 | Transcription factor SOX-9 | Homo sapiens (Human) | PR |
| O94993 | SOX30 | Transcription factor SOX-30 | Homo sapiens (Human) | PR |
| P35716 | SOX11 | Transcription factor SOX-11 | Homo sapiens (Human) | EV |
| O15370 | SOX12 | Transcription factor SOX-12 | Homo sapiens (Human) | SS |
| Q04887 | Sox9 | Transcription factor SOX-9 | Mus musculus (Mouse) | PR |
| Q04886 | Sox8 | Transcription factor SOX-8 | Mus musculus (Mouse) | SS |
| Q04888 | Sox10 | Transcription factor SOX-10 | Mus musculus (Mouse) | PR |
| Q04890 | Sox12 | Transcription factor SOX-12 | Mus musculus (Mouse) | SS |
| Q7M6Y2 | Sox11 | Transcription factor SOX-11 | Mus musculus (Mouse) | SS |
| P0C1G9 | Sox11 | Transcription factor SOX-11 | Rattus norvegicus (Rat) | SS |
| Q8T3B9 | sem-2 | Transcription factor sem-2 | Caenorhabditis elegans | SS |
| Q6GLH8 | sox17b.2 | Transcription factor Sox-17-beta.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q8AWH2 | sox17b.1 | Transcription factor Sox-17-beta.1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFLRSMWGV | LSALGRSGAE | LCTGCGSRLR | SPFSFVYLPR | WFSSVLASCP | KKPVSSYLRF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SKEQLPIFKA | QNPDAKTTEL | IRRIAQRWRE | LPDSKKKIYQ | DAYRAEWQVY | KEEISRFKEQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTPSQIMSLE | KEIMDKHLKR | KAMTKKKELT | LLGKPKRPRS | AYNVYVAERF | QEAKGDSPQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KLKTVKENWK | NLSDSEKELY | IQHAKEDETR | YHNEMKSWEE | QMIEVGRKDL | LRRTIKKQRK |
| YGAEEC |