HOXA11 - homeobox A11 Gene
Also Known as HOX1; HOX1I; RUSAT1
Species: Homo sapiens
About HOXA11
This gene has 2 transcripts (splice variants), 259 orthologues, 42 paralogues and is associated with 44 phenotypes. Biased expression in endometrium (RPKM 34.9), prostate (RPKM 6.8) and 4 other tissues.
Summary
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
HOXA11 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_005523.6 | NP_005514.1 | homeobox protein Hox-A11 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
HOXA11 Protein Structure
DUF3528: Protein of unknown function (DUF3528) (25 - 171)
Homeobox: Homeobox domain (242 - 298)
- 0
- 100
- 200
- 313 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homeobox protein Hox-A11 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
|
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
|
| Synostosis |
|
|
| Glioma |
|
|
| Ovarian Cancer |
|
|
| Radioulnar Synostosis |
|
|
| Thrombocytopenia |
|
|
| Thrombocytopenia 1 |
|
|
| Submucous Uterine Fibroid |
|
|
| Hand-Foot-Genital Syndrome |
|
|
| Athabaskan Brainstem Dysgenesis Syndrome |
|
|
| Myoma |
|
|
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
|
| Pelvic Organ Prolapse |
|
|
| Amegakaryocytic Thrombocytopenia, Congenital |
|
|
| Synpolydactyly |
|
|
| Clubfoot |
|
|
| Cakut |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | HOXA11 | VGNC | VGNC:29909 |
| Mus musculus | HOXA11 | MGD | MGI:96172 |
| Canis familiaris | HOXA11 | VGNC | VGNC:41746 |
| Felis catus | HOXA11 | VGNC | VGNC:67617 |
| Rattus norvegicus | HOXA11 | RGD | RGD:1564605 |
| Macaca mulatta | HOXA11 | VGNC | VGNC:108412 |
| Others | HOXA11 | NCBI |