ALMS1 (ALMS1 centrosome and basal body associated protein)

2015-09-01  

Identity

HGNC
ALMS1
LOCATION
2p13.1
LOCUSID
7840
ALIAS
ALSS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116127ENST00000423048H7C1D9
ENSG00000116127ENST00000484298A0A087WTU9
ENSG00000116127ENST00000490821A0A2R8Y7Z9
ENSG00000116127ENST00000613296Q8TCU4
ENSG00000116127ENST00000614410A0A087WV20
ENSG00000116127ENST00000651057A0A494C0F1
ENSG00000116127ENST00000651434A0A494BZW1
ENSG00000116127ENST00000651750A0A494C003
ENSG00000116127ENST00000652487A0A494C1N9

Expression (GTEx)

0
5
10
15
20
25
30
35
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

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379378572024Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.1
381228992024Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters.0
384283292024New variants of ALMS1 gene and familial Alström syndrome case series.0
384974832024CircALMS1 Alleviates Pulmonary Microvascular Endothelial Cell Dysfunction in Pulmonary Hypertension.0
385461512024Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance.1
379378572024Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.1
381228992024Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters.0
384283292024New variants of ALMS1 gene and familial Alström syndrome case series.0
384974832024CircALMS1 Alleviates Pulmonary Microvascular Endothelial Cell Dysfunction in Pulmonary Hypertension.0
385461512024Overburden of rare ALMS1 deleterious variants in Chinese early-onset type 2 diabetes with severe insulin resistance.1
380624772023Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes.0
380624772023Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes.0
352922922022Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease.2
357861232022Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome.0
361629882022New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.0

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/js/deep-insight-explorer/case-report-explorer/