Reactome | CYP24A1 R159Q [mitochondrial inner membrane]

CYP24A1 R159Q [mitochondrial inner membrane]

Stable Identifier

R-HSA-5602018

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial inner membrane

Synonyms

Cytochrome P450 24A1, CP24_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q07973 CYP24A1

Gene Names

CYP24A1, CYP24

Chain

transit peptide:1-35, chain:36-514

Reference Genes

BioGPS Gene:1591 CYP24A1

COSMIC (genes):CYP24A1 CYP24A1

CTD Gene:1591 CYP24A1

dbSNP Gene:1591 CYP24A1

ENSEMBL:ENSG00000019186 CYP24A1

HGNC:2602 CYP24A1

KEGG Gene (Homo sapiens):1591 CYP24A1

Monarch:1591 CYP24A1

NCBI Gene:1591 CYP24A1

OMIM:126065 CYP24A1

UCSC:Q07973 CYP24A1

Reference Transcript

Other Identifiers

11732877_a_at

11737968_a_at

11752903_a_at

1591

16920497

206504_at

3910430

3910431

3910433

3910434

3910435

3910436

3910438

3910439

3910440

3910443

3910444

3910445

3910447

3910450

3910451

3910454

3910455

660_at

71346_at

8067140

A_23_P28815

A_24_P356930

A_33_P3369401

GE57625

GO:0001649

GO:0003674

GO:0004497

GO:0005506

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005737

GO:0005739

GO:0005741

GO:0005886

GO:0006629

GO:0006766

GO:0007165

GO:0008150

GO:0008403

GO:0009056

GO:0010430

GO:0016491

GO:0016705

GO:0020037

GO:0030154

GO:0030342

GO:0033280

GO:0042359

GO:0042369

GO:0043167

GO:0043226

GO:0044281

GO:0046872

GO:0055114

GO:0062180

GO:0062181

GO:0070561

GO:0070576

GO:0070643

ILMN_1685663

L13286_at

TC20000962.hg

g4503204_3p_at

Participant Of

hasMember

CYP24A1 mutants [mitochondrial inner membrane]

Other forms of this molecule

CYP24A1 C477Lfs*14 [mitochondrial inner membrane]

CYP24A1 E322K [mitochondrial inner membrane]

CYP24A1 E151* [mitochondrial inner membrane]

CYP24A1 R396W [mitochondrial inner membrane]

CYP24A1 [mitochondrial inner membrane]

CYP24A1 E143del [mitochondrial inner membrane]

Modified Residues

Name

L-arginine 159 replaced with L-glutamine

Coordinate

159

PsiMod

L-glutamine residue [MOD:00016]

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

L-arginine removal [MOD:01632]

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

Disease

Name	Identifier	Synonyms
hypercalcemia	12678	hypercalcemia (disorder), hypercalcinemia, hypercalcaemia, hyperCALCEMIA, hypercalcemia, hypercalcaemia

Cross References

RefSeq

XP_016883182.1, NP_001122387.1, XP_016883180.1, XP_005260361.1, XP_016883181.1, NP_000773.2

ZINC - World Drugs

CP24A_HUMAN

OpenTargets

ENSG00000019186

ZINC - FDA approved

CP24A_HUMAN

ZINC - Substances

CP24A_HUMAN

ZINC target

Q07973

PRO

Q07973

ZINC - Investigational

CP24A_HUMAN

IntEnz

1.14.15.16

HPA

ENSG00000019186-CYP24A1

GeneCards

Q07973

Ensembl

ENST00000216862, ENSG00000019186, ENSP00000379284, ENSP00000379285, ENST00000395955, ENST00000395954, ENSP00000216862

Orphanet

20406

ZINC - Predictions - Purchasable

CP24A_HUMAN

HMDB Protein

HMDBP01801