Reactome | ALMS1 [cytosol]

ALMS1 [cytosol]

Stable Identifier

R-HSA-380289

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Locations in the PathwayBrowser

Expand all

Organelle biogenesis and maintenance (Homo sapiens)

- Cilium Assembly (Homo sapiens)
  - Assembly of the 9+0 primary cilium (Homo sapiens)
    - Anchoring of the basal body to the plasma membrane (Homo sapiens)
      - C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
      - C2CD3 binds the mother centriole (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
      - CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body (Homo sapiens)
        
        basal body:transition zone proteins [cytosol] (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
        
        basal body:transition zone proteins:RAB3IP:RAB11A:GTP:Golgi-derived vesicle [cytosol] (Homo sapiens)
        
        basal body:transition zone proteins [cytosol] (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
      - CP110 and CEP97 dissociate from the centriole (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
        
        centrosome:C2CD2:distal appendage proteins:TTBK2:MARK4 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins:TTBK2 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
      - MARK4 binds ODF2 in the centriole (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins:TTBK2 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
        
        centrosome:C2CD2:distal appendage proteins:TTBK2:MARK4 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins:TTBK2 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
      - RAB3IP stimulates nucleotide exchange on RAB8A (Homo sapiens)
        
        basal body:transition zone proteins:RAB3IP:RAB11A:GTP:Golgi-derived vesicle [cytosol] (Homo sapiens)
        
        basal body:transition zone proteins [cytosol] (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
      - Recruitment of transition zone proteins (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
        
        basal body:transition zone proteins [cytosol] (Homo sapiens)
        
        basal body [cytosol] (Homo sapiens)
        
        centrosome without CEP164, CCP110 or CEP97 [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
      - The distal appendage proteins recruit TTBK2 (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins:TTBK2 [cytosol] (Homo sapiens)
        
        Centrosome:C2CD3:distal appendage proteins [cytosol] (Homo sapiens)
        
        mother centriole:C2CD3 [cytosol] (Homo sapiens)
        
        mother centriole [cytosol] (Homo sapiens)
        
        ALMS1 [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q8TCU4 ALMS1

Gene Names

ALMS1, KIAA0328

Chain

chain:1-4168

Reference Genes

BioGPS Gene:7840 ALMS1

COSMIC - genes:ALMS1 ALMS1

CTD Gene:7840 ALMS1

dbSNP Gene:7840 ALMS1

ENSEMBL:ENSG00000116127 ALMS1

HGNC:428 ALMS1

KEGG:hsa:7840 ALMS1

Monarch:7840 ALMS1

NCBI Gene:7840 ALMS1

OMIM:606844 ALMS1

UCSC:Q8TCU4 ALMS1

Reference Transcript

Other Identifiers

11743631_a_at

1552576_PM_at

1552576_at

16881514

214220_PM_s_at

214220_s_at

214221_PM_at

214221_at

214707_3p_x_at

214707_PM_x_at

214707_x_at

2488789

2488790

2488791

2488792

2488796

2488798

2488799

2488800

2488801

2488802

2488803

2488804

2488805

2488806

2488807

2488808

2488812

2488813

2488814

2488815

2488816

2488817

2488818

2488819

2488820

2488821

2488826

2488827

2488828

2488829

2488830

2488831

2488832

2488837

2488840

2488842

2488845

2488846

2488848

2488849

2488850

2488851

2488852

2488853

2488863

2488864

2488865

2488866

2488868

2488869

2488870

2488871

2488872

2488873

2488874

2488875

2488876

2488877

2488878

2488879

2488880

2488881

2488882

2488888

2488889

2488912

2488913

2488916

2488917

38343_at

38344_at

63114_at

70305_at

7840

8042737

A_14_P107301

A_14_P121482

A_14_P134640

A_14_P137734

A_23_P312174

A_23_P312179

A_33_P3332724

GE53060

GE647910

GO:0000922

GO:0005515

GO:0005654

GO:0005737

GO:0005739

GO:0005813

GO:0005814

GO:0005815

GO:0005829

GO:0005856

GO:0005929

GO:0015630

GO:0016192

GO:0016197

GO:0036064

GO:0042995

GO:0043226

GO:0046599

GO:0051492

GO:0120162

HMNXSV003023607

Hs.97393.0.S1_3p_a_at

Hs.97393.2.S1_3p_x_at

Hs2.348518.1.S1_3p_at

ILMN_1709474

PH_hs_0005290

TC02000443.hg

Participates

as a component of

Inferred To

alms1 [cytosol] (Danio rerio)

alms1 [cytosol] (Xenopus tropicalis)

ALMS1 [cytosol] (Bos taurus)

ALMS1 [cytosol] (Canis familiaris)

ALMS1 [cytosol] (Gallus gallus)

ALMS1 [cytosol] (Sus scrofa)

Alms1 [cytosol] (Mus musculus)

Alms1 [cytosol] (Rattus norvegicus)

Cross References

RefSeq

NP_055935.4, NP_001365383.1

ENSEMBL

ENSP00000482968, ENSG00000116127, ENST00000613296

OpenTargets

ENSG00000116127

GeneCards

ALMS1

HPA

ENSG00000116127-ALMS1

PRO

Q8TCU4

Pharos - Targets

Q8TCU4

GlyGen

Q8TCU4

Orphanet

ALMS1

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q8IWZ6 BBS7	1	BBS7 [cytosol] (R-HSA-5617632)	0.527	3
UniProt:O75923 DYSF	1	DYSF [cytoplasmic vesicle membrane] (R-HSA-5263626)	0.505	3

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