Reactome | ALDOB A149P [cytosol]

ALDOB A149P [cytosol]

Stable Identifier

R-HSA-5656457

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Fructose-bisphosphate aldolase B A149P, Liver-type aldolase A149P

Locations in the PathwayBrowser

Expand all

Literature References

PubMed ID	Title	Journal	Year
10625657	Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis Sygusch, J, Cox, TM, Rellos, P	J. Biol. Chem.	2000
3383242	Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation Cross, NC, Cox, TM, Tolan, DR	Cell	1988

External Reference Information

External Reference

UniProt:P05062 ALDOB

Gene Names

ALDOB, ALDB

Chain

initiator methionine:, chain:2-364

Reference Genes

BioGPS Gene:229 ALDOB

COSMIC (genes):ALDOB ALDOB

CTD Gene:229 ALDOB

dbSNP Gene:229 ALDOB

ENSEMBL:ENSG00000136872 ALDOB

ENSEMBL_homo_sapiens_GENE:ENSG00000136872.21 ALDOB

HGNC:417 ALDOB

KEGG Gene (Homo sapiens):229 ALDOB

Monarch:229 ALDOB

NCBI Gene:229 ALDOB

OMIM:612724 ALDOB

UCSC:P05062 ALDOB

Reference Transcript

RefSeq:NM_000035.3 ALDOB

Other Identifiers

11739162_a_at

11739163_a_at

11750289_a_at

11750290_x_at

17096640

204704_PM_s_at

204704_s_at

204705_PM_x_at

204705_x_at

211357_PM_s_at

211357_s_at

217238_PM_s_at

217238_s_at

229

3218080

3218081

3218082

3218083

3218084

3218089

3218090

3218091

3218092

3218093

3218095

3218096

3218097

3218098

3218100

3218101

3218102

3218103

3218106

3218109

3218110

33455_at

77417_at

8162884

A_23_P32143

A_23_P415974

GE80880

GO:0003824

GO:0004332

GO:0005515

GO:0005576

GO:0005615

GO:0005737

GO:0005815

GO:0005829

GO:0005856

GO:0005975

GO:0006000

GO:0006001

GO:0006091

GO:0006094

GO:0006096

GO:0006116

GO:0008092

GO:0016829

GO:0030388

GO:0032781

GO:0034451

GO:0042802

GO:0043226

GO:0051117

GO:0055086

GO:0060090

GO:0061609

GO:0061624

GO:0065003

GO:0070061

GO:0070062

GO:0070072

GO:1901135

GO:1905856

HMNXSV003053752

Hs.234234.0.S2_3p_at

ILMN_1747716

M15656_at

TC09001421.hg

g4557306_3p_a_at

Participates

as a component of

ALDOB A149P dimer [cytosol] (Homo sapiens)

Other forms of this molecule

ALDOB A174D [cytosol]

ALDOB [cytosol]

Modified Residues

Name

L-alanine 149 replaced with L-proline

Coordinate

149

PsiMod

L-alanine removal [MOD:01631]

A protein modification that effectively removes or replaces an L-alanine.

L-proline residue [MOD:00024]

A protein modification that effectively converts a source amino acid residue to L-proline.

Disease

Name	Identifier	Synonyms
hereditary fructose intolerance syndrome	DOID:9869	Fructosemia, Fructose-1,6-bisphosphate aldolase B deficiency, Fructosaemia

Cross References

RefSeq

NP_000026.2

OpenTargets

ENSG00000136872

GeneCards

P05062

HPA

ENSG00000136872-ALDOB

Ensembl

ENST00000648064, ENST00000648758, ENST00000647789, ENSP00000497767, ENSG00000136872, ENSP00000497731, ENSP00000497990

PRO

P05062

Pharos - Targets

P05062

Orphanet

15492

PDB

1XDM, 1XDL, 1QO5, 8D44

HMDB Protein

HMDBP00980

Interactors (4)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q8NFJ9 BBS1	1	BBS1 [cytosol] (R-HSA-5617640)	0.543	4
UniProt:Q9BXC9 BBS2	1	BBS2 [cytosol] (R-HSA-5617637)	0.543	4
UniProt:Q96RK4 BBS4	1	BBS4 [cytosol] (R-HSA-5617635)	0.543	4
UniProt:Q8IWZ6 BBS7	1	BBS7 [cytosol] (R-HSA-5617632)	0.543	4