| Type | Description |
|---|---|
| Definition | tetratricopeptide repeat domain 7A |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:33:00 | The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. | 33122718 |
| 2021-02-13 13:20:00 | TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients. | 31814065 |
| 2019-09-07 13:01:00 | TTC7A Deficiency Presenting With Combined Immunodeficiency. | 30350797 |
| 2018-09-01 11:30:00 | TTC7A deficiency identified in a patient with overlapping features of tricho-hepato-enteric syndrome and multiple intestinal atresia with combined immune deficiency syndrome. | 29174094 |
| 2018-02-03 11:23:00 | Studies indicate that mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause a severe form of very early onset inflammatory bowel disease | 27418642 |
| Type | IDs |
|---|---|
| Synonymous | GIDID, MINAT, TTC7 |
| Gene |
UniProtKB-ID:
TTC7A_HUMAN,
G5E9G4_HUMAN,
I6L9J2_HUMAN,
B3KPK7_HUMAN
UniprotKB:
Q9ULT0,
G5E9G4,
I6L9J2,
B3KPK7
UniParc:
UPI00006C6AB9,
UPI00001A8338,
UPI0000E073DA,
UPI0001D32303,
UPI000067CA5D,
UPI00001BDC89
EMBL:
AL834383,
CH471053,
BC001978,
BC114365,
AC093732,
AC073283,
AC016722,
AK056464,
AB032966,
BC027457,
BC111487
Ensembl:
ENSG00000068724
KO:
hsa:57217
|
| Nucleutide sequences |
EMBL-CDS:
AAH27457.1,
CAD39046.2,
AAH01978.1,
AAI11488.1,
BAA86454.2,
EAX00226.1,
AAI14366.1,
BAG51719.1
Gene_ORFName:
hCG_17034
Ensembl_TRS:
ENST00000394850,
ENST00000319190,
ENST00000409245
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000316699,
ENSP00000378320,
ENSP00000386307
RefSeq:
XP_011531303.1,
NP_065191.2,
XP_016860015.1,
XP_016860018.1,
XP_024308781.1,
NP_001275880.1,
XP_011531301.1,
NP_001275884.1,
NP_001275882.1,
XP_011531302.1,
XP_016860014.1,
XP_016860013.1,
XP_011531300.1,
XP_005264496.1
|
| Others |
UniRef100:
UniRef100_G5E9G4,
UniRef100_I6L9J2,
UniRef100_B3KPK7,
UniRef100_Q9ULT0
UniRef90:
UniRef90_Q9ULT0,
UniRef90_A0A2I3LJ60
UniRef50:
UniRef50_A0A2I3LJ60,
UniRef50_Q9ULT0
UniGene:
Hs.370603,
Hs.736871
CCDS:
CCDS74511.1,
CCDS33193.1
|
| {{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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