| Type | Description |
|---|---|
| Definition | Abelson helper integration site 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 11:53:00 | The proband of family 1 with Joubert syndrome was found to harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of the AHI1 gene, which may cause premature termination of translation of the Abelson helper integration site 1 after the 691st amino acid | 32335874 |
| 2020-02-22 11:40:00 | An early event of AHI1 reduction in the body of AD patients was observed. Serum AHI1 may be valuable for early diagnosis of Alzheimer disease | 31786207 |
| 2018-09-01 12:14:00 | Two copies of the MS risk allele within AHI1 (rs11154801) is associated with increased relapses among children and adults. | 29409597 |
| 2018-08-25 10:18:00 | Elevated ORF1p expression is associated with tumor progression. experimentally induce ORF1p expression and promote migration in bladder cancer cells. | 29496693 |
| 2018-07-28 10:18:00 | Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290, TMEM67, and AHI1. | 29146704 |
| Type | IDs |
|---|---|
| Synonymous | AHI-1, JBTS3, ORF1, dJ71N10.1 |
| Gene |
UniProtKB-ID:
AHI1_HUMAN,
Q8NER0_HUMAN
UniprotKB:
Q8N157,
Q8NER0
UniParc:
UPI00000701FB,
UPI000006D869,
UPI000020E2A4,
UPI000050D039
EMBL:
BC029417,
AJ459824,
BC094800,
AL136797,
AJ606362,
AL133544,
AY133243,
CH471051,
DQ090887,
AL023693,
AL049552,
AJ459825,
AK092262,
BC065712
Ensembl:
ENSG00000135541
KO:
hsa:54806
|
| Nucleutide sequences |
EMBL-CDS:
AAH65712.1,
AAH29417.1,
BAC03840.1,
EAW47963.1,
CAB66731.1,
AAY99645.1,
CAD30871.1,
EAW47962.1,
CAE54481.1,
CAD30872.1,
AAH94800.1,
AAM94177.1
Ensembl_TRS:
ENST00000457866,
ENST00000367800,
ENST00000327035,
ENST00000265602,
ENST00000531788
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000356774,
ENSP00000432167,
ENSP00000322478,
ENSP00000388650,
ENSP00000265602
RefSeq:
XP_011534212.1,
NP_001337433.1,
NP_001128303.1,
NP_001128302.1,
XP_024302247.1,
XP_016866470.1,
NP_060121.3,
XP_016866468.1,
NP_001128304.1,
XP_016866469.1,
XP_016866473.1,
XP_011534213.1,
XP_024302248.1,
NP_001337432.1,
XP_016866467.1
|
| Others |
UniRef100:
UniRef100_Q8NER0,
UniRef100_Q8N157
UniRef90:
UniRef90_Q8N157
UniRef50:
UniRef50_Q8N157
UniGene:
Hs.386684
CCDS:
CCDS47483.1,
CCDS47484.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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