| Type | Description |
|---|---|
| Definition | coiled-coil and C2 domain containing 1A |
| Date | Results | Publications |
|---|---|---|
| 2020-10-24 14:13:00 | Unravelling of Hidden Secrets: The Lethal (2) Giant Discs (Lgd)/CC2D1, Notch Signalling and Cancer. | 33034024 |
| 2018-01-13 14:22:00 | Both expressions of CC2D1A and HTR1A genes studied on autism spectrum disorder cases and controls were significantly different | 26782176 |
| 2017-06-24 12:21:00 | CC2D1A binds to CHMP4B polymers formed on endosomes to regulate the endosomal sorting pathway.CC2D1A regulates degradation and signaling of EGFR and TLR4. | 27769858 |
| 2016-02-06 12:02:00 | Aki1 was expressed in human diffuse malignant mesothelioma specimens. Expression correlated with phosphorylated CREB1. Aki1 regulates CREB by modulating protein kinase A activity. The Aki1-CREB axis plays an important role in DMM pathogenesis. | 26294214 |
| 2015-08-29 10:04:00 | Null mutations in CC2D1A consistently cause a variable spectrum of presentations including ID, ASD, and seizures. CC2D1A regulates NF-kappaB signaling. | 25066123 |
| Type | IDs |
|---|---|
| Synonymous | FREUD-1, Freud-1/Aki1, MRT3 |
| Gene |
UniProtKB-ID:
C2D1A_HUMAN
UniprotKB:
Q6P1N0
UniParc:
UPI0000203524,
UPI000059D68F
EMBL:
AF536205,
AB097002,
AK026371,
AK000248,
BC048345,
BC064981
Ensembl:
ENSG00000132024,
ENSG00000288293
KO:
hsa:54862
|
| Nucleutide sequences |
EMBL-CDS:
AAH64981.1,
AAH48345.1,
BAB15464.1,
BAC77355.1,
BAA91029.1,
AAN04488.1
Ensembl_TRS:
ENST00000589606,
ENST00000672017,
ENST00000672339,
ENST00000318003
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000500343,
ENSP00000500461,
ENSP00000467526,
ENSP00000313601
RefSeq:
XP_005260031.1,
XP_005260030.1,
XP_024307331.1,
XP_024307330.1,
NP_060191.3,
XP_024307333.1,
XP_024307332.1
|
| Others |
UniRef100:
UniRef100_Q6P1N0
UniRef90:
UniRef90_Q6P1N0
UniRef50:
UniRef50_Q6P1N0
UniGene:
Hs.269592
CCDS:
CCDS42512.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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