Type | Description |
---|---|
Definition | 5'-aminolevulinate synthase 1 |
Date | Results | Publications |
---|---|---|
2021-02-20 13:29:00 | Inhibition of ALAS1 activity exerts anti-tumour effects on colorectal cancer in vitro. | 32270771 |
2018-06-09 12:20:00 | The mutation in CLPX inactivates its ATPase activity, resulting in coassembly of mutant and WT protomers to form an enzyme with reduced activity. The presence of low-activity CLPX increases the posttranslational stability of ALAS, causing increased ALAS protein and ALA levels, leading to abnormal accumulation of PPIX. | 28874591 |
2017-05-20 14:24:00 | the heme-binding site in the N-terminal region of the mature ALAS1 protein is also necessary for the heme-dependent oxidation of ALAS1. | 27496948 |
2016-06-11 10:06:00 | ALAS1 mRNA and activity were elevated approximately ~3- and 5-fold, and HMB synthase activity was approximately half-normal (~42%) | 26062020 |
2013-12-28 11:04:00 | The -853T variant functions as an enhancer in the presence of estrogen and speculates that the -1253A variant reduces transcription activity. | 19656447 |
Type | IDs |
---|---|
Synonymous | ALAS, ALAS-H, ALAS3, ALASH, MIG4 |
Gene |
UniProtKB-ID:
HEM1_HUMAN,
Q5JAM2_HUMAN,
B4DVA0_HUMAN
UniprotKB:
P13196,
Q5JAM2,
B4DVA0
UniParc:
UPI00017A7E8A,
UPI000152635E,
UPI0000001230
EMBL:
X56351,
AY260745,
CH471055,
Y00451,
AK300993,
BC011798,
AK312566,
AB063322
Ensembl:
ENSG00000023330
KO:
hsa:211
|
Nucleutide sequences |
EMBL-CDS:
AAH11798.1,
CAA68506.1,
CAA39794.1,
BAB93514.1,
EAW65190.1,
EAW65189.1,
AAP94018.1,
BAG35461.1,
EAW65188.1,
BAG62612.1
Gene_ORFName:
OK/SW-cl.121,
hCG_42575
Ensembl_TRS:
ENST00000394965,
ENST00000484952,
ENST00000310271,
ENST00000469224
|
Protein sequencees |
Ensembl_PRO:
ENSP00000417719,
ENSP00000378416,
ENSP00000309259,
ENSP00000418779
RefSeq:
NP_000679.1,
XP_024309161.1,
XP_011531779.1,
NP_954635.1,
NP_001291373.1,
NP_001291372.1,
XP_011531780.1,
XP_016861362.1
|
Others |
UniRef100:
UniRef100_B4DVA0,
UniRef100_P13196
UniRef90:
UniRef90_P13196
UniRef50:
UniRef50_P13196
UniGene:
Hs.476308
CCDS:
CCDS2847.1
|
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Refseq |
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