ALMS1 (ALMS1 centrosome and basal body associated protein)

2015-09-01 Affiliation

Identity

HGNC

ALMS1

LOCATION

2p13.1

LOCUSID

7840

ALIAS

ALSS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7840
MIM: 606844
HGNC: 428
Ensembl: ENSG00000116127

Variants:

dbSNP: 7840
ClinVar: 7840
TCGA: ENSG00000116127
COSMIC: ALMS1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000116127	ENST00000423048	H7C1D9
ENSG00000116127	ENST00000484298	A0A087WTU9
ENSG00000116127	ENST00000490821	A0A2R8Y7Z9
ENSG00000116127	ENST00000613296	Q8TCU4
ENSG00000116127	ENST00000614410	A0A087WV20
ENSG00000116127	ENST00000651057	A0A494C0F1
ENSG00000116127	ENST00000651434	A0A494BZW1
ENSG00000116127	ENST00000651750	A0A494C003
ENSG00000116127	ENST00000652487	A0A494C1N9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
Mitotic G2-G2/M phases	REACTOME	R-HSA-453274
G2/M Transition	REACTOME	R-HSA-69275
Regulation of PLK1 Activity at G2/M Transition	REACTOME	R-HSA-2565942
Centrosome maturation	REACTOME	R-HSA-380287
Recruitment of mitotic centrosome proteins and complexes	REACTOME	R-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosome	REACTOME	R-HSA-380284
Loss of Nlp from mitotic centrosomes	REACTOME	R-HSA-380259
AURKA Activation by TPX2	REACTOME	R-HSA-8854518

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20383146	2010	New loci associated with kidney function and chronic kidney disease.	337
11941369	2002	Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.	91
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
11941370	2002	Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.	72
15855349	2005	Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes.	66
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
17594715	2007	Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.	50
17594715	2007	Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.	50
24681783	2014	Basal body proteins regulate Notch signaling through endosomal trafficking.	36
20844083	2010	Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.	35

Citation

Dessen P

ALMS1 (ALMS1 centrosome and basal body associated protein)

Atlas Genet Cytogenet Oncol Haematol. 2015-09-01

Online version: http://atlasgeneticsoncology.org/gene/55396/alms1