SLC24A5 L454Ffs*33

Stable Identifier
R-HSA-5626326
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Sodium/potassium/calcium exchanger 5, NCKX5_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC24A5, JSX, NCKX5
Chain
signal peptide:1-29, chain:30-500
Reference Transcript
Other Identifiers
0006220102
11732581_a_at
16800764
283652
3593020
3593021
3593022
3593023
3593032
3593034
3593035
3593037
3593038
3593041
3593045
3593048
3593049
72087_at
7983553
A_33_P3400688
AAH73944
AAI13629
AAI13631
AAI43951
AAQ15116
ABG66958
ABG66959
AC090526
AF348468
BC073944
BC113628
BC113630
BC143950
CCDS10128
DQ665306
DQ665307
ENSG00000188467
ENSP00000341550
ENSP00000389966
ENST00000341459
ENST00000449382
EntrezGene:283652
GO:0003674
GO:0005262
GO:0005509
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005794
GO:0005802
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006813
GO:0006814
GO:0006816
GO:0006874
GO:0008150
GO:0008273
GO:0009058
GO:0015293
GO:0015297
GO:0016020
GO:0016021
GO:0019748
GO:0022857
GO:0030955
GO:0031402
GO:0031410
GO:0032588
GO:0034220
GO:0035725
GO:0042470
GO:0042592
GO:0043167
GO:0043226
GO:0048021
GO:0048022
GO:0050896
GO:0055085
GO:0070588
HGNC:20611
ILMN_1786045
IPR004481
IPR004837
IPR030245
MIM:113750
MIM:609802
NM_205850
NP_995322
PF01699
SLC24A5
SLC24A5-201
SLC24A5-202
TC15000375.hg
uc001zwe.4
uc010bel.4
UPI0000242BC9
UPI000156577B
XM_017022079
XM_017022080
XP_016877568
XP_016877569
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 454 to 485 by FSSSLQWLETRQKVGNSLPIIILGACYIISSI
Disease
Name Identifier Synonyms
oculocutaneous albinism 0050632
Cross References
RefSeq
GeneCards
PRO
Orphanet
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q6FHY5 Q6FHY5      0.488 2