O88933
EV
Gene name |
Esx1 |
Protein name |
Extraembryonic, spermatogenesis, homeobox 1 (Homeobox protein SPX1) (Homeodomain protein EPX) |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:13984 |
EC number |
|
Protein Class |
HOMEOBOX PROTEIN ARISTALESS (PTHR24329) |
Descriptions
Esx1 is an X-linked gene that is chromosomally imprinted and is expressed specifically in extraembryonic tissues during development, as well as in the adult testis. Esx1 homeobox gene plays a role in mouse development. The autoinhibitory region containing PF/PN motif inhibits the translocation and DNA binding of Esx1 via N-terminal extension.
Autoinhibitory domains (AIDs)
Target domain |
1-68 (N-terminal extension) |
Relief mechanism |
Partner binding |
Assay |
Split protein assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
0 structures for O88933
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|
9 variants for O88933
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs242156336 | 33 | S>I | No | Ensembl | |
| rs223644432 | 53 | T>S | No | Ensembl | |
| rs234290141 | 95 | G>E | No | Ensembl | |
| rs212820215 | 107 | A>P | No | Ensembl | |
| rs242215186 | 111 | N>D | No | Ensembl | |
| rs240547705 | 121 | S>A | No | Ensembl | |
| rs214606687 | 126 | G>E | No | Ensembl | |
| rs255475096 | 134 | R>P | No | Ensembl | |
| rs248366455 | 164 | P>H | No | Ensembl |
No associated diseases with O88933
10 regional properties for O88933
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 670 - 919 | IPR000719 |
| domain | Ephrin receptor ligand binding domain | 33 - 237 | IPR001090 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 670 - 914 | IPR001245 |
| conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 213 - 233 | IPR001426-1 |
| conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 286 - 306 | IPR001426-2 |
| domain | Sterile alpha motif domain | 945 - 1012 | IPR001660 |
| domain | Fibronectin type III | 369 - 486 | IPR003961-1 |
| domain | Fibronectin type III | 487 - 582 | IPR003961-2 |
| domain | Tyrosine-protein kinase ephrin type A/B receptor-like | 306 - 345 | IPR011641 |
| domain | Ephrin receptor, transmembrane domain | 596 - 667 | IPR027936 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24329 | HOMEOBOX PROTEIN ARISTALESS |
| PANTHER Subfamily | PTHR24329:SF340 | HOMEOBOX PROTEIN ESX1 |
| PANTHER Protein Class |
DNA-binding transcription factor
homeodomain transcription factor helix-turn-helix transcription factor |
|
| PANTHER Pathway Category | No pathway information available | |
3 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. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron 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. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded 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. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| blood vessel development | The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. |
| labyrinthine layer blood vessel development | The process whose specific outcome is the progression of a blood vessel of the labyrinthine layer of the placenta over time, from its formation to the mature structure. The embryonic vessels grow through the layer to come in close contact with the maternal blood supply. |
| labyrinthine layer morphogenesis | The process in which the labyrinthine layer of the placenta is generated and organized. |
| 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. |
| negative regulation of transcription, DNA-templated | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
24 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNI8 | LHX9 | LIM/homeobox protein Lhx9 | Bos taurus (Bovine) | PR |
| Q90881 | LHX9 | LIM/homeobox protein Lhx9 | Gallus gallus (Chicken) | PR |
| F1NEA7 | DMBX1 | Diencephalon/mesencephalon homeobox protein 1 | Gallus gallus (Chicken) | PR |
| Q90963 | PRRX2 | Paired mesoderm homeobox protein 2 | Gallus gallus (Chicken) | PR |
| Q8IRC7 | Awh | LIM/homeobox protein Awh | Drosophila melanogaster (Fruit fly) | PR |
| Q8NHV9 | RHOXF1 | Rhox homeobox family member 1 | Homo sapiens (Human) | PR |
| Q9NQ69 | LHX9 | LIM/homeobox protein Lhx9 | Homo sapiens (Human) | PR |
| O95076 | ALX3 | Homeobox protein aristaless-like 3 | Homo sapiens (Human) | PR |
| Q9BQY4 | RHOXF2 | Rhox homeobox family member 2 | Homo sapiens (Human) | PR |
| Q99811 | PRRX2 | Paired mesoderm homeobox protein 2 | Homo sapiens (Human) | PR |
| P50458 | LHX2 | LIM/homeobox protein Lhx2 | Homo sapiens (Human) | PR |
| O15266 | SHOX | Short stature homeobox protein | Homo sapiens (Human) | PR |
| P63013 | Prrx1 | Paired mesoderm homeobox protein 1 | Mus musculus (Mouse) | PR |
| Q8VIH1 | Nobox | Homeobox protein NOBOX | Mus musculus (Mouse) | PR |
| Q06348 | Prrx2 | Paired mesoderm homeobox protein 2 | Mus musculus (Mouse) | PR |
| Q9WUH2 | Lhx9 | LIM/homeobox protein Lhx9 | Mus musculus (Mouse) | PR |
| Q62066 | Phox2a | Paired mesoderm homeobox protein 2A | Mus musculus (Mouse) | PR |
| Q80W90 | Lhx9 | LIM/homeobox protein Lhx9 | Rattus norvegicus (Rat) | PR |
| P36198 | Lhx2 | LIM/homeobox protein Lhx2 | Rattus norvegicus (Rat) | PR |
| Q8L7H4 | HDG4 | Homeobox-leucine zipper protein HDG4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV65 | HDG3 | Homeobox-leucine zipper protein HDG3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q28G02 | siamois | Homeobox protein siamois | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q566X8 | dmbx1b | Diencephalon/mesencephalon homeobox protein 1-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1LWV4 | lhx9 | LIM/homeobox protein Lhx9 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MESHKKCPCC | YCTDLKTFVG | AVKEETLQDP | QPSLSSTLLE | GADYQENAES | ETTFYSDFGA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SPKEEEVEME | NSLFNSMFLE | EANYQEPEGF | EPSRGEAAAP | VAEAPQAWNG | NENLGGGFLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SNAQLGEADA | APVRQSLMRP | LMQPVAQSSP | QPLPANPLQA | PQQPEEQEEE | EEEQPGEEQP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QQEPKPRRYR | ICFTPIQLQE | LEAFFQRVQY | PDLFARVELA | RRLGLPEPRV | QVWFQNRRAK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WRRLRRAQAF | RNMVPVAMSP | PVGVYLDDHY | GPIPIVEVIW | KCYPMVPRPM | HPQMMPLPPR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPPGFRMPPP | FRPPPLPPFP | WPPVPPDAHI | PNAAREYNPF | PFPFPFPFPF | PNPFPNPNPN |
| 370 | 380 | ||||
| PNPNPNPNPN | PNQNFAGPRY | RY |