AMMECR1 (AMMECR nuclear protein 1)

2007-04-01  

Identity

HGNC
LOCATION
Xq23
LOCUSID
ALIAS
AMMERC1,MFHIEN
FUSION GENES

Other Information

Locus ID:

NCBI: 9949
MIM: 300195
HGNC: 467
Ensembl: ENSG00000101935

Variants:

dbSNP: 9949
ClinVar: 9949
TCGA: ENSG00000101935
COSMIC: AMMECR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101935ENST00000262844Q9Y4X0
ENSG00000101935ENST00000262844A0A0S2Z4X0
ENSG00000101935ENST00000372057Q9Y4X0
ENSG00000101935ENST00000372059Q9Y4X0
ENSG00000101935ENST00000372059A0A0S2Z4V0

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
278113052017AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.4
291936352018Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.4
155585652005Crystal structure of PH0010 from Pyrococcus horikoshii, which is highly homologous to human AMMECR 1C-terminal region.1
280899222017X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.1
315195612019AMMECR1 Inhibits Apoptosis and Promotes Cell-cycle Progression and Proliferation of the A549 Human Lung Cancer Cell Line.0

Citation

Dessen P

AMMECR1 (AMMECR nuclear protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46672/ammecr1