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211 ALAS1

211

ALAS1

5'-aminolevulinate synthase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition 5'-aminolevulinate synthase 1

研究结论

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

名称对应

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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