Reactome | TIMM50 [mitochondrial inner membrane]

TIMM50 [mitochondrial inner membrane]

Stable Identifier

R-HSA-1252070

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial inner membrane

Synonyms

Mitochondrial import inner membrane translocase subunit TIM50, TIM50_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q3ZCQ8 TIMM50

Gene Names

TIMM50, TIM50, PRO1512

Chain

transit peptide:1-44, chain:45-353

Reference Genes

BioGPS Gene:92609 TIMM50

COSMIC (genes):TIMM50 TIMM50

CTD Gene:92609 TIMM50

dbSNP Gene:92609 TIMM50

ENSEMBL:ENSG00000105197 TIMM50

ENSEMBL_homo_sapiens_GENE:ENSG00000105197.11 TIMM50

HGNC:23656 TIMM50

KEGG Gene (Homo sapiens):92609 TIMM50

Monarch:92609 TIMM50

NCBI Gene:92609 TIMM50

OMIM:607381 TIMM50

UCSC:Q3ZCQ8 TIMM50

Reference Transcript

Other Identifiers

11739512_a_at

11739513_x_at

11754015_a_at

11754016_x_at

16862066

217612_PM_at

217612_at

224913_PM_s_at

224913_s_at

3833094

3833095

3833096

3833098

3833099

3833102

3833104

3833105

3833107

3833108

3833110

3833111

3833112

3833113

3833114

3833115

3833116

3833117

3833118

3833119

45285_at

8028705

92609

A_14_P125522

A_23_P415882

GE86520

GO:0001836

GO:0003723

GO:0003824

GO:0004721

GO:0004722

GO:0004725

GO:0005134

GO:0005515

GO:0005634

GO:0005654

GO:0005739

GO:0005743

GO:0005744

GO:0006470

GO:0006886

GO:0007005

GO:0007006

GO:0012501

GO:0015031

GO:0016020

GO:0016607

GO:0016787

GO:0023052

GO:0030150

GO:0036211

GO:0043021

GO:0043226

GO:0055085

GO:0061024

GO:0140096

HMNXSV003022942

Hs.233952.2.A1_3p_a_at

Hs.271717.0.A1_3p_at

ILMN_1752229

TC19000548.hg

Participates

as a component of

TIMM23 Complex [mitochondrial inner membrane] (Homo sapiens)

Cross References

RefSeq

NP_001316488.1, NP_001001563.1

OpenTargets

ENSG00000105197

HPA

ENSG00000105197-TIMM50

GeneCards

Q3ZCQ8

Ensembl

ENSP00000475531, ENST00000544017, ENST00000607714, ENSP00000445806, ENSG00000105197

PRO

Q3ZCQ8

Pharos - Targets

Q3ZCQ8

Orphanet

25584

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P04049 RAF1	20	p-S338,Y340,Y341-RAF1 [cytosol] (R-HSA-5624465) p-S338-RAF1 [cytosol] (R-HSA-5624469) p-S621-RAF1 S259F [cytosol] (R-HSA-9656124) p-S621-RAF1 S257L [cytosol] (R-HSA-9656121) p-S621-RAF1 P261L [cytosol] (R-HSA-9656106) p-S621-RAF1 N262K [cytosol] (R-HSA-9656101) p-S621-RAF1 P261A [cytosol] (R-HSA-9656103) p-S621-RAF1 P261S [cytosol] (R-HSA-9656113) p-S621-RAF1 S259T [cytosol] (R-HSA-9656130) p-S621-RAF1 P261T [cytosol] (R-HSA-9656115) p-S621-RAF1 P261R [cytosol] (R-HSA-9656110) p-S621-RAF1 S259P [cytosol] (R-HSA-9656127) p-S621-RAF1 T260I [cytosol] (R-HSA-9656136) p-S621-RAF1 T260R [cytosol] (R-HSA-9656139) p-S621-RAF1 V263A [cytosol] (R-HSA-9656148) p-S621-RAF1 R256S [cytosol] (R-HSA-9656119) p-S621-RAF1 T491I [cytosol] (R-HSA-9656143) p-S621-RAF1 D486N [cytosol] (R-HSA-9656088) p-S621-RAF1 S427G [cytosol] (R-HSA-9656134) p-S621-RAF1 L613V [cytosol] (R-HSA-9656098)	0.738	7
UniProt:Q99558 MAP3K14	5	p-T559-MAP3K14 [cytosol] (R-HSA-5668531) K48polyUb-NIK [cytosol] (R-HSA-5668525) Active NIK [cytosol] (R-HSA-5607646) MAP3K14 [cytosol] (R-HSA-168189) p-MAP3K14 [cytosol] (R-HSA-168187)	0.564	2
UniProt:P04626 ERBB2	20	ERBB2 G309E [plasma membrane] (R-HSA-9665342) ERBB2 G309A [plasma membrane] (R-HSA-9665349) ERBB2 S310F [plasma membrane] (R-HSA-9665350) ERBB2 S310Y [plasma membrane] (R-HSA-9665344) p-6Y-ERBB2 G309A [plasma membrane] (R-HSA-9665381) p-6Y-ERBB2 G309E [plasma membrane] (R-HSA-9665382) p-6Y-ERBB2 S310F [plasma membrane] (R-HSA-9665379) p-6Y-ERBB2 S310Y [plasma membrane] (R-HSA-9665385) p-Y-ERBB2 L755P [plasma membrane] (R-HSA-9654268) p-Y-ERBB2 I767M [plasma membrane] (R-HSA-9654303) p-Y-ERBB2 T798I [plasma membrane] (R-HSA-9654618) p-Y-ERBB2 Y772_A775dup [plasma membrane] (R-HSA-9665652) p-Y-ERBB2 T862A [plasma membrane] (R-HSA-9654695) p-Y-ERBB2 T798M [plasma membrane] (R-HSA-9654615) p-Y-ERBB2 H878Y [plasma membrane] (R-HSA-9654833) p-Y-ERBB2 V777L [plasma membrane] (R-HSA-9654401) p-Y-ERBB2 L755S [plasma membrane] (R-HSA-9654194) p-Y-ERBB2 V777E [plasma membrane] (R-HSA-9654397) p-Y-ERBB2 V777M [plasma membrane] (R-HSA-9654398) p-Y-ERBB2 L755M [plasma membrane] (R-HSA-9654191)	0.527	2
UniProt:Q9UBN7 HDAC6	4	HDAC6 [nucleoplasm] (R-HSA-351589) HDAC6 [late endosome lumen] (R-HSA-9659980) HDAC6 [cytosol] (R-HSA-5324660) HDAC6 [lysosomal lumen] (R-HSA-9660002)	0.527	2
UniProt:Q13418 ILK	1	ILK [cytosol] (R-HSA-432864)	0.527	2
UniProt:P13569 CFTR	17	PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) CFTR [lysosomal membrane] (R-HSA-5627279) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [endosome membrane] (R-HSA-6782965) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) ub-CFTR F508del [cytosol] (R-HSA-8866838) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) CFTR G542* [plasma membrane] (R-HSA-5678986) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR [plasma membrane] (R-HSA-383188) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730)	0.483	12

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