例如:"NBL1", "4681", "drought"
收藏
124512 METTL23

124512

METTL23

methyltransferase like 23

protein-coding

Homo sapiens

基因描述

Type Description
Definition methyltransferase like 23

研究结论

Date Results Publications
2021-04-03 13:32:00 Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. 32878022
2021-02-06 13:57:00 Further delineation of METTL23-associated intellectual disability. 32067349
2021-01-09 13:29:00 Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features. 32439618
2015-02-21 11:56:00 METTL23 mutations cause mild nonsyndromic autosomal recessive intellectual disability in two unrelated families, one from Austria, the other from Pakistan. 24626631
2015-01-31 13:19:00 METTL23, a transcriptional partner of GABPA, is essential for human cognition 24501276

名称对应

Type IDs
Synonymous C17orf95, MRT44
Gene
UniProtKB-ID: MET23_HUMAN, Q8N712_HUMAN, A0A024R8M5_HUMAN
UniprotKB: Q86XA0, Q8N712, A0A024R8M5
UniParc: UPI000016111D, UPI0000E5A0C6, UPI00001BDAEC
EMBL: JQ313903, CH471099, BC045819, AC005837, BC033998
Ensembl: ENSG00000181038
KO: hsa:124512
Nucleutide sequences
EMBL-CDS: EAW89437.1, AAH45819.1, EAW89435.1, AFH41797.1, AAH33998.2, EAW89438.1
Gene_ORFName: hCG_1818127
Ensembl_TRS: ENST00000586752, ENST00000341249, ENST00000615984, ENST00000588822, ENST00000590964
Protein sequencees
Ensembl_PRO: ENSP00000465430, ENSP00000465890, ENSP00000482599, ENSP00000466203, ENSP00000341543
RefSeq: NP_001193914.1, NP_001289632.1, NP_001365280.1, NP_001289634.1, NP_001365283.1, NP_001193915.1, XP_016879634.1, NP_001365281.1, NP_001289633.1, NP_001193916.1, NP_001073979.3, XP_006721742.1, XP_024306331.1, NP_001365279.1, NP_001365277.1, NP_001365278.1, NP_001193913.1, NP_001193912.1, NP_001365282.1
Others
UniRef100: UniRef100_Q8N712, UniRef100_Q86XA0
UniRef90: UniRef90_Q86XA0
UniRef50: UniRef50_Q86XA0
UniGene: Hs.74655
CCDS: CCDS59298.1, CCDS45787.1

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员