Reactome | ACACA [cytosol]

ACACA [cytosol]

Stable Identifier

R-HSA-1660609

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Acetyl-CoA carboxylase 1, ACACA_HUMAN, ACC1

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Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Defects in vitamin and cofactor metabolism (Homo sapiens)
    - Defects in biotin (Btn) metabolism (Homo sapiens)
      - Defective HLCS causes multiple carboxylase deficiency (Homo sapiens)
        
        Defective HLCS does not biotinylate ACACA:Mn2+ (Homo sapiens)
        
        ACACA:2Mn2+ [cytosol] (Homo sapiens)
        
        ACACA [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q13085 ACACA

Gene Names

ACACA, ACAC, ACC1, ACCA

Chain

chain:1-2346

Reference Genes

BioGPS Gene:31 ACACA

CTD Gene:31 ACACA

dbSNP Gene:31 ACACA

ENSEMBL:ENSG00000275176.4 ACACA

ENSEMBL:ENSG00000278540 ACACA

ENSEMBL:ENSG00000278540.5 ACACA

HGNC:84 ACACA

KEGG Gene (Homo sapiens):31 ACACA

Monarch:31 ACACA

NCBI Gene:31 ACACA

OMIM:200350 ACACA

UCSC:Q13085 ACACA

Reference Transcript

Other Identifiers

0002100288

11718264_a_at

11723307_a_at

11754514_a_at

16843728

212186_PM_at

212186_at

3754471

3754472

3754473

3754474

3754475

3754476

3754477

3754478

3754479

3754481

3754482

3754486

3754487

3754488

3754489

3754490

3754492

3754493

3754515

3754516

3754517

3754521

3754528

3754529

3754530

3754534

3754535

3754536

3754537

3754539

3754540

3754542

3754544

3754546

3754555

3754556

3754557

3754558

3754560

3754563

3754566

3754568

3754569

3754570

3754571

3754572

3754574

3754575

3754576

3754577

3754578

3754579

3754582

3754584

3754585

3754586

3754587

3754588

3754589

3754590

3754592

3754593

3754594

3754597

3754598

3754599

3754600

3754601

3754610

3754611

3754612

3754615

3754631

3754632

3754642

38528_at

49091_at

78783_at

8014487

A_23_P141434

A_32_P215318

A_33_P3334225

GO:0000166

GO:0001650

GO:0001894

GO:0003824

GO:0003989

GO:0005515

GO:0005524

GO:0005622

GO:0005634

GO:0005730

GO:0005737

GO:0005739

GO:0005829

GO:0005856

GO:0006084

GO:0006629

GO:0006631

GO:0006633

GO:0006790

GO:0008152

GO:0015629

GO:0016874

GO:0019538

GO:0042802

GO:0043226

GO:0044238

GO:0044281

GO:0046872

GO:0046949

GO:0051289

GO:0055086

GO:0055088

GO:0065003

GO:0071380

GO:1901135

GO:2001295

HMNXSV003011928

Hs.7232.0.S2_3p_at

ILMN_1772123

ILMN_2331636

PH_hs_0026272

TC17001406.hg

TC17002601.hg

Participates

as an output of

Expression of Acetyl CoA Carboxylase 1 (ACACA, ACC1) (Homo sapiens)

as a component of

ACACA:2Mn2+ [cytosol] (Homo sapiens)

Other forms of this molecule

Btn-ACACA [cytosol]

Inferred To

acaca [cytosol] (Xenopus tropicalis)

ACC [cytosol] (Drosophila melanogaster)

ACACA [cytosol] (Bos taurus)

ACACA [cytosol] (Canis familiaris)

ACACA [cytosol] (Danio rerio)

ACACA [cytosol] (Dictyostelium discoideum)

ACACA [cytosol] (Gallus gallus)

ACACA [cytosol] (Mus musculus)

ACACA [cytosol] (Plasmodium falciparum)

ACACA [cytosol] (Rattus norvegicus)

ACACA [cytosol] (Saccharomyces cerevisiae)

ACACA [cytosol] (Schizosaccharomyces pombe)

ACACA [cytosol] (Sus scrofa)

pod-2 [cytosol] (Caenorhabditis elegans)

Cross References

RefSeq

NP_942133.1, NP_942135.1, XP_011523005.1, NP_942134.1, NP_942136.1, NP_942131.1, XP_016880044.1

Guide to Pharmacology - Targets

1263

OpenTargets

ENSG00000278540

ZINC - Substances

ACACA_HUMAN

ZINC target

Q13085

PRO

Q13085

PDB

6G2D, 6G2H, 4ASI, 3COJ, 6G2I, 2YL2

ZINC - Investigational

ACACA_HUMAN

HPA

ENSG00000278540-ACACA

GeneCards

Q13085

Ensembl

ENSP00000478547, ENSG00000278540, ENSP00000480031, ENSP00000483300, ENST00000611803, ENSG00000275176, ENSP00000482269, ENST00000614428, ENST00000619487, ENSP00000483674, ENSP00000482368, ENST00000616317, ENST00000617649, ENSP00000478577, ENST00000613687, ENST00000612895, ENSP00000479901, ENST00000621312

Pharos - Targets

Q13085

ZINC - Predictions - Purchasable

ACACA_HUMAN

Orphanet

28193

HMDB Protein

HMDBP00047

Interactors (9)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9CQ20	1	Mid1ip1 [cytosol] (R-MMU-8867328)	0.642	4
UniProt:Q96EB6 SIRT1	1	SIRT1 [nucleoplasm] (R-HSA-427531)	0.591	3
UniProt:Q13418 ILK	1	ILK [cytosol] (R-HSA-432864)	0.564	2
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	0.564	2
UniProt:Q13085 ACACA	2	Btn-ACACA [cytosol] (R-HSA-2976730) ACACA [cytosol] (R-HSA-1660609)	0.558	2
UniProt:O60218 AKR1B10	1	AKR1B10 [cytosol] (R-HSA-2855246)	0.556	4
UniProt:Q15418 RPS6KA1	7	RPS6KA1 [nucleoplasm] (R-HSA-199860) p-4S,T359,T573-RPS6KA1 [nucleoplasm] (R-HSA-199829) RPS6KA1 [cytosol] (R-HSA-444256) p-T359,S363,T573-RPS6KA1 [cytosol] (R-HSA-9619957) p-S221,T459,S363,S380,T573,T732-RPS6KA1 [cytosol] (R-HSA-9619871) p-T359,S363,S380.T573,T372-RPS6KA1 [cytosol] (R-HSA-9619993) p-S221,T359,S363,S380,T573,T732-RPS6KA1 [nucleoplasm] (R-HSA-444292)	0.527	2
UniProt:P25098 GRK2	4	p-S29-ADRBK1 [cytosol] (R-HSA-9645318) ADRBK1 [cilium] (R-HSA-5632504) p-S29-ADRBK1 [plasma membrane] (R-HSA-111969) GRK2 [plasma membrane] (R-HSA-50270)	0.527	2
UniProt:P38398 BRCA1	20	polySUMO2,3-BRCA1 [nucleoplasm] (R-HSA-2997624) monoSUMO1-K109-BRCA1 [nucleoplasm] (R-HSA-2997644) BRCA1 M1411T [nucleoplasm] (R-HSA-9702140) BRCA1 M1400V [nucleoplasm] (R-HSA-9701202) BRCA1 L1407P [nucleoplasm] (R-HSA-9702135) BRCA1 Y777* [nucleoplasm] (R-HSA-9702765) BRCA1 S1009* [nucleoplasm] (R-HSA-9702755) BRCA1 P724Lfs12 [nucleoplasm] (R-HSA-9703778) BRCA1 S451 [nucleoplasm] (R-HSA-9702754) BRCA1 S864* [nucleoplasm] (R-HSA-9702752) BRCA1 P897Kfs5 [nucleoplasm] (R-HSA-9703782) BRCA1 N555Kfs17 [nucleoplasm] (R-HSA-9703781) BRCA1 Y1127Sfs6 [nucleoplasm] (R-HSA-9703780) BRCA1 S886Cfs16 [nucleoplasm] (R-HSA-9703802) BRCA1 V83Cfs2 [nucleoplasm] (R-HSA-9703800) BRCA1 T464Pfs11 [nucleoplasm] (R-HSA-9703807) BRCA1 G813Dfs2 [nucleoplasm] (R-HSA-9703549) BRCA1 V340Gfs6 [nucleoplasm] (R-HSA-9703804) BRCA1 Y655* [nucleoplasm] (R-HSA-9702769) BRCA1 W372* [nucleoplasm] (R-HSA-9702768)	0.524	2

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