| Type | Description |
|---|---|
| Definition | integrator complex subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:11:00 | A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing. | 32367751 |
| 2020-10-10 12:58:00 | Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. | 31428919 |
| 2020-06-20 11:31:00 | The distinctive phenotype associated with biallelic variants in INTS1 points to dysfunction of the integrator complex as a mechanism for intellectual disability, eye defects and craniofacial anomalies | 30622326 |
| 2017-07-01 10:08:00 | Mutations in INTS1 cause a severe neurodevelopmental syndrome. | 28542170 |
| Type | IDs |
|---|---|
| Synonymous | INT1, NET28 |
| Gene |
UniProtKB-ID:
INT1_HUMAN
UniprotKB:
Q8N201
UniParc:
UPI0000D7211C
EMBL:
BC069262,
AC102953,
AY358482,
AL137358,
BC013367,
AC093734,
AL050110,
BC018777,
AB037861,
BK005720
Ensembl:
ENSG00000164880
KO:
hsa:26173
|
| Nucleutide sequences |
EMBL-CDS:
AAH13367.2,
AAH18777.1,
DAA05720.1,
AAH69262.1,
CAB70710.3,
BAA92678.1,
CAB43278.2,
AAQ88846.1
Gene_ORFName:
UNQ1821/PRO3434
Ensembl_TRS:
ENST00000404767
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000385722
RefSeq:
XP_011513562.1,
NP_001073922.2,
XP_016867449.1,
XP_016867448.1,
XP_011513564.1
|
| Others |
UniRef100:
UniRef100_Q8N201
UniRef90:
UniRef90_Q8N201
UniRef50:
UniRef50_Q8N201
UniGene:
Hs.532188
CCDS:
CCDS47526.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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