Reactome | SLC24A4 A146V [plasma membrane]

SLC24A4 A146V [plasma membrane]

Stable Identifier

R-HSA-5626265

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Sodium/potassium/calcium exchanger 4, NCKX4_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q8NFF2 SLC24A4

Gene Names

SLC24A4, NCKX4

Chain

signal peptide:1-38, chain:39-622

Reference Genes

BioGPS Gene:123041 SLC24A4

COSMIC (genes):SLC24A4 SLC24A4

CTD Gene:123041 SLC24A4

dbSNP Gene:123041 SLC24A4

ENSEMBL:ENSG00000140090 SLC24A4

HGNC:10978 SLC24A4

KEGG Gene (Homo sapiens):123041 SLC24A4

Monarch:123041 SLC24A4

NCBI Gene:123041 SLC24A4

OMIM:609840 SLC24A4

UCSC:Q8NFF2 SLC24A4

Reference Transcript

Other Identifiers

0000870280

0005910364

11735593_a_at

11735594_a_at

123041

1568870_at

16787564

243969_at

3548853

3548854

3548855

3548856

3548857

3548858

3548859

3548860

3548861

3548862

3548863

3548864

3548868

3548869

3548885

3548886

3548888

3548889

3548890

3548892

3548893

3548894

3548895

3548896

3548900

3548902

3548912

3548914

3548916

3548917

3548923

3548924

3548925

3548927

3548928

7976263

86080_at

A_14_P127959

A_23_P503010

A_33_P3318148

GE526582

GE795459

GO:0003674

GO:0005262

GO:0005575

GO:0005622

GO:0005737

GO:0005886

GO:0005887

GO:0006810

GO:0006811

GO:0006813

GO:0006814

GO:0006816

GO:0006874

GO:0007608

GO:0008150

GO:0008273

GO:0015293

GO:0015297

GO:0016020

GO:0016021

GO:0022857

GO:0035725

GO:0042592

GO:0044214

GO:0048646

GO:0048856

GO:0050877

GO:0050896

GO:0055085

GO:0070588

GO:0071805

GO:0097186

GO:0098656

Hs.177386.0.A1_3p_at

Hs2.385530.1.S1_3p_at

ILMN_1675391

ILMN_1708530

ILMN_1815949

ILMN_2370738

PH_hs_0010544

TC14000570.hg

TC14001815.hg

Participant Of

hasMember

SLC24A4 mutants [plasma membrane]

Other forms of this molecule

SLC24A4 S499C [plasma membrane]

SLC24A4 R339* [plasma membrane]

SLC24A4 [plasma membrane]

Modified Residues

Name

L-alanine 146 replaced with L-valine

Coordinate

146

PsiMod

L-alanine removal [MOD:01631]

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

L-valine residue [MOD:00029]

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

Disease

Name	Identifier	Synonyms
amelogenesis imperfecta	2187

Cross References

RefSeq

NP_705933.2, NP_705932.2, NP_705934.1

OpenTargets

ENSG00000140090

GeneCards

Q8NFF2

HPA

ENSG00000140090-SLC24A4

Ensembl

ENSP00000433302, ENSP00000431840, ENST00000532405, ENSP00000376948, ENST00000531433, ENST00000393265, ENSG00000140090

PRO

Q8NFF2

Orphanet

21893

HMDB Protein

HMDBP03054