Cell atlas - ALMS1 - The Human Protein Atlas

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ALMS1

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TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol

Human cell
	Cytosol

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GENERAL INFORMATION
Gene name	ALMS1
Gene description	Alstrom syndrome protein 1
Protein class	Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the cytosol.
RNA cell category	Cell line enhanced (RH-30)
Protein evidence	Evidence at protein level
Main location	Localized to the Cytosol (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA043200
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (RH-30) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the cytosol.

Main location

Cytosol (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA043200	A-431	Cytosol
	HPA043200	U-2 OS	Cytosol
	HPA043200	U-251 MG	Cytosol

GENE INFORMATION
Gene name	ALMS1 (HGNC Symbol)
Synonyms	KIAA0328
Description	Alstrom syndrome protein 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
Chromosome	2
Cytoband	p13.1
Chromosome location (bp)	73385758 - 73610793
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000116127 (version 83.38)
Entrez gene	7840
UniProt
neXtProt
Antibodypedia	ALMS1 antibodies

PROTEIN BROWSER

ALMS1-001	ALMS1-002	ALMS1-008

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ALMS1-001 ENSP00000482968 ENST00000613296	A0A087WZY3 [Direct mapping] Alstrom syndrome protein 1 Show all	Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005814 [centriole] GO:0036064 [ciliary basal body] Show all	4168 aa 461.1 kDa	No	0
ALMS1-002 ENSP00000478155 ENST00000484298	A0A087WTU9 [Direct mapping] Alstrom syndrome protein 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005813 [centrosome] Show all	4126 aa 456.4 kDa	No	0
ALMS1-008 ENSP00000479094 ENST00000614410	A0A087WV20 [Direct mapping] Alstrom syndrome protein 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005813 [centrosome] Show all	3859 aa 425.2 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.