Reactome | SLC9A6 E255_S256del [early endosome membrane]

SLC9A6 E255_S256del [early endosome membrane]

Stable Identifier

R-HSA-5661066

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

early endosome membrane

Synonyms

Sodium/hydrogen exchanger 6, SL9A6_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q92581 SLC9A6

Gene Names

SLC9A6, KIAA0267, NHE6

Chain

chain:1-701

Reference Genes

BioGPS Gene:10479 SLC9A6

COSMIC (genes):SLC9A6 SLC9A6

CTD Gene:10479 SLC9A6

dbSNP Gene:10479 SLC9A6

ENSEMBL:ENSG00000198689 SLC9A6

HGNC:11079 SLC9A6

KEGG:hsa:10479 SLC9A6

Monarch:10479 SLC9A6

NCBI Gene:10479 SLC9A6

OMIM:300231 SLC9A6

UCSC:Q92581 SLC9A6

Reference Transcript

Other Identifiers

10479

11719516_a_at

11719517_a_at

17107206

17107211

203909_PM_at

203909_at

36542_at

3992352

3992353

3992355

3992356

3992360

3992361

3992362

3992363

3992364

3992365

3992366

3992367

3992370

3992372

3992373

3992376

3992377

3992378

3992379

3992381

3992382

3992383

3992384

3992385

64264_r_at

8170097

A_14_P135399

A_23_P22625

A_24_P410562

A_33_P3263027

D87743_at

GE54235

GO:0005215

GO:0005515

GO:0005768

GO:0005769

GO:0005770

GO:0005789

GO:0005886

GO:0006811

GO:0006812

GO:0006814

GO:0006885

GO:0007163

GO:0015297

GO:0015385

GO:0015386

GO:0016020

GO:0030010

GO:0030425

GO:0031410

GO:0031547

GO:0031901

GO:0031902

GO:0034330

GO:0035725

GO:0042802

GO:0043226

GO:0043231

GO:0043679

GO:0044308

GO:0045202

GO:0048675

GO:0048812

GO:0048856

GO:0050808

GO:0051386

GO:0051453

GO:0055037

GO:0055038

GO:0055085

GO:0060996

GO:0061900

GO:0071805

GO:0097484

GO:0098685

GO:0098719

GO:0098793

GO:0098978

GO:0099072

GO:1901546

GO:1902600

HMNXSV003003261

HMNXSV003044497

ILMN_1655892

ILMN_1677829

ILMN_2269619

ILMN_2363097

PH_hs_0003938

TC0X000656.hg

TC0X000657.hg

g5454069_3p_at

Participates

as a member of

SLC9A6 mutants [early endosome membrane] (Homo sapiens)

Other forms of this molecule

SLC9A6 [early endosome membrane]

SLC9A6 H171fs*60 [early endosome membrane]

SLC9A6 338-340del [early endosome membrane]

SLC9A6 R468* [early endosome membrane]

SLC9A6 E547* [early endosome membrane]

Modified Residues

Name

Deletion of residues 255 to 256

Disease

Name	Identifier	Synonyms
syndromic intellectual disability	DOID:0050888

Cross References

Guide to Pharmacology - Targets

953

OpenTargets

ENSG00000198689

ENSEMBL

ENSP00000490527, ENSP00000490731, ENSP00000490648, ENSP00000490406, ENST00000636347, ENST00000370695, ENST00000370701, ENST00000370698, ENST00000637234, ENSG00000198689, ENSP00000359732, ENSP00000359735, ENSP00000359729, ENST00000636092, ENST00000637581

HPA

ENSG00000198689-SLC9A6

GeneCards

SLC9A6

PRO

Q92581

Pharos - Targets

Q92581

Orphanet

SLC9A6

GlyGen

Q92581

HMDB Protein

HMDBP07998

Interactors (4)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9BYC5 FUT8	1	FUT8 [Golgi membrane] (R-HSA-1028782)	0.527	4
UniProt:P43353 ALDH3B1	3	ALDH3B1 [specific granule membrane] (R-HSA-6799510) ALDH3B1 [plasma membrane] (R-HSA-5696096) ALDH3B1 [secretory granule membrane] (R-HSA-6801023)	0.527	2
UniProt:P17931 LGALS3	3	LGALS3 [plasma membrane] (R-HSA-879445) LGALS3 [secretory granule membrane] (R-HSA-6803327) LGALS3 [ficolin-1-rich granule membrane] (R-HSA-6803307)	0.527	4
UniProt:Q8NAT1 POMGNT2	1	POMGNT2 [endoplasmic reticulum membrane] (R-HSA-8879119)	0.527	3