Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PTCRA (Pre T Cell Antigen Receptor Alpha) is a Protein Coding gene. Diseases associated with PTCRA include Palmoplantar Keratoderma And Congenital Alopecia 2 and Coronary Aneurysm. Among its related pathways are Transcriptional misregulation in cancer and C-MYB transcription factor network.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 22795130 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Transcriptional misregulation in cancer | ||
3 | C-MYB transcription factor network |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0070244 | negative regulation of thymocyte apoptotic process | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||
SP5: | - | - | - | - |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTCRA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTCRA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTCRA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ptcra 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptcra 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781870 | Benign: not provided | 42,925,516(+) | G/A | MISSENSE_VARIANT | |
rs36111725 | - | p.Ala183Thr | |||
rs9471966 | - | p.Val106Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1622905 | CNV | insertion | 17803354 |
esv3576145 | CNV | gain | 25503493 |
esv3608807 | CNV | loss | 21293372 |
nsv1017398 | CNV | gain | 25217958 |
nsv830651 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
palmoplantar keratoderma and congenital alopecia 2 |
|
|
coronary aneurysm |
|
|
immunodeficiency 19 |
|
|
heart aneurysm |
|
|
t-cell lymphoblastic leukemia/lymphoma |
|