TIMM44 - translocase of inner mitochondrial membrane 44 Gene

Also Known as TIM44

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10469

About TIMM44

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,926,718-7,943,666 (from NCBI)

This gene has 12 transcripts (splice variants) and 269 orthologues. Ubiquitous expression in heart (RPKM 13.8), thyroid (RPKM 10.9) and 25 other tissues.

Summary

This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]

TIMM44 Products (1)

mRNA	Protein	Name
NM_006351.4	NP_006342.2	mitochondrial import inner membrane translocase subunit TIM44

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12620389	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of TIM23 mitochondrial import inner membrane translocase complex	IDA IDA: Inferred from direct assay	30598479	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	10339406	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	10339406	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TIMM44 Protein Structure

Tim44

0
100
200
300
400
452 a.a.

Protein Preferred Names	Protein Names
mitochondrial import inner membrane translocase subunit TIM44	translocase of inner mitochondrial membrane 44 homolog

TIMM44 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TIMM44	O43615	GTF3C3	Homo sapiens	Q9Y5Q9	Validated Y2H	32814053
Intra	TIMM44	O43615	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Array	32814053
Intra	TIMM44	O43615	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Pooling	32814053
Intra	TIMM44	O43615	CCDC57	Homo sapiens	Q2TAC2-2	Validated Y2H	32296183
Intra	TIMM44	O43615	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Array	25910212
Intra	TIMM44	O43615	CMTM5	Homo sapiens	Q96DZ9-2	Validated Y2H	25910212
Intra	TIMM44	O43615	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Bait-Prey Pool	25910212
Intra	TIMM44	O43615	CMTM5	Homo sapiens	Q96DZ9	Validated Y2H	25416956
Intra	TIMM44	O43615	CMTM5	Homo sapiens	Q96DZ9	Y2H Array	25416956
Intra	TIMM44	O43615	SFT2D2	Homo sapiens	O95562	Y2H Prey Pooling	32296183
Intra	TIMM44	O43615	SFT2D2	Homo sapiens	O95562	Validated Y2H	32296183
Intra	TIMM44	O43615	SFT2D2	Homo sapiens	O95562	Y2H Array	32296183
Intra	TIMM44	O43615	UBASH3A	Homo sapiens	P57075-2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

TIMM44 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82462	TIM44 Antibody (YA2207)	WB, ICC/IF, IP	Human
HY-P82462A	TIM44 Antibody (YA2207)(PBS only)	WB, ICC/IF, IP	Human

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia Type 28 SCA28 Ataxia, Spinocerebellar, Type 28
Developmental And Epileptic Encephalopathy 12	Epileptic Encephalopathy, Early Infantile, 12 DEE12 Eiee12 Early Infantile Epileptic Encephalopathy 12 Developmental And Epileptic Encephalopathy, 12 Encephalopathy, Epileptic, Early Infantile, Type 12
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic Aciduria Type 5 Mga5 MGCA5 Dcma Dcma Syndrome Dilated Cardiomyopathy With Ataxia 3-Methylglutaconic Aciduria Type V Mga Type V Cardiomyopathy, Dilated, With Ataxia Mga, Type V Dilated Cardiomyopathy With Ataxia Syndrome Dnajc19 Defect 3-Methylglutaconic Aciduria 5 3-Alpha-Methylglutaconic Aciduria Type 5 3-@Methylglutaconic Aciduria, Type V
Sengers Syndrome	Mitochondrial Dna Depletion Syndrome 10 Cardiomyopathy And Cataract Cataract And Cardiomyopathy MTDPS10 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 Senger Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14532	TIMM44 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TIMM44	VGNC	VGNC:66190
Mus musculus	TIMM44	MGD	MGI:1343262
Canis familiaris	TIMM44	VGNC	VGNC:49622
Rattus norvegicus	TIMM44	RGD	RGD:3864
Bos taurus	TIMM44	VGNC	VGNC:49577
Macaca mulatta	TIMM44	VGNC	VGNC:78401
Others	TIMM44	NCBI