Reactome | ALMS1 [cytosol]

ALMS1 [cytosol]

Stable Identifier

R-HSA-380289

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Locations in the PathwayBrowser

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Organelle biogenesis and maintenance (Homo sapiens)

- Cilium Assembly (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

CTD Gene:7840 ALMS1

dbSNP Gene:7840 ALMS1

ENSEMBL:ENSG00000116127 ALMS1

HGNC:428 ALMS1

KEGG Gene (Homo sapiens):7840 ALMS1

Monarch:7840 ALMS1

NCBI Gene:7840 ALMS1

OMIM:606844 ALMS1

Reference Transcript

RefSeq:NM_015120.4 ALMS1

Other Identifiers

0004060347

11743631_a_at

16881514

214220_s_at

214221_at

2488791

2488792

2488796

2488798

2488800

2488801

2488802

2488812

2488814

2488815

2488816

2488817

2488818

2488819

2488820

2488821

2488826

2488827

2488828

2488829

2488830

2488831

2488832

2488837

2488840

2488842

2488845

2488846

2488848

2488849

2488850

2488863

2488864

2488865

2488866

2488868

2488869

2488870

2488876

2488878

2488879

2488880

2488881

2488913

38343_at

38344_at

43200

7840

8042737

A0A087WTU9

A0A087WV20

A0A494C0F1

A_14_P107301

A_14_P121482

A_23_P312174

A_23_P312179

A_33_P3332724

AAH35025

AAH50330

AAX82023

AAY24208

AB002326

AC074008

AC092653

AC096546

AJ417593

ALMS1

ALMS1-206

BAA20786

BC035025

BC050330

CAD10391

CCDS42697

ENSG00000116127

ENSP00000482968

ENST00000613296

ENST00000613296.4

EntrezGene:7840

EntrezGene:ALMS1

GE53060

GO:0000086

GO:0000278

GO:0000922

GO:0003674

GO:0005515

GO:0005575

GO:0005622

GO:0005623

GO:0005737

GO:0005813

GO:0005814

GO:0005815

GO:0005829

GO:0005856

GO:0005929

GO:0006810

GO:0007010

GO:0007049

GO:0008017

GO:0008092

GO:0008150

GO:0010389

GO:0016192

GO:0016197

GO:0022607

GO:0042592

GO:0042995

GO:0043226

GO:0046599

GO:0051492

GO:0097711

GO:0120162

H7C1D9

HGNC:428

HPA043200

Hs.97393.0.S1_3p_a_at

ILMN_1709474

IPR028781

IPR029299

IPR040972

KF573641

LRG_741

LRG_741t1

MIM:203800

MIM:606844

NM_015120

NP_055935

PF15309

PF18727

PH_hs_0005290

TC02000443.hg

UPI00046209B2

Participant Of

hasComponent

Inferred To

ALMS1 [cytosol] (Bos taurus)

ALMS1 [cytosol] (Canis familiaris)

ALMS1 [cytosol] (Danio rerio)

ALMS1 [cytosol] (Gallus gallus)

ALMS1 [cytosol] (Mus musculus)

ALMS1 [cytosol] (Rattus norvegicus)

ALMS1 [cytosol] (Sus scrofa)

Ghost homologue of ALMS1 [cytosol] (Xenopus tropicalis)

Cross References

RefSeq

NP_055935.4

OpenTargets

ENSG00000116127

GeneCards

Q8TCU4

PRO

Q8TCU4

Orphanet

15501

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O75923 DYSF	1	DYSF [cytoplasmic vesicle membrane] (R-HSA-5263626)	0.543	3