SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000807 
UniProt Accession
Theoretical PI
6.76  
Molecular Weight
34005 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
Tomm40l 
Gene Synonyms/Alias
Tomm40b 
Protein Name
Mitochondrial import receptor subunit TOM40B 
Protein Synonyms/Alias
Protein TOMM40-like; 
Organism
Mus musculus (Mouse) 
NCBI Taxonomy ID
10090 
Chromosome Location
chr:1;173147933-173152645;-1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
Temporarily unavailable 
The information of related literatures
1. H. Kissel, I. Timokhina, M. P. Hardy, G. Rothschild, Y. Tajima, V. Soares, M. Angeles, S. R. Whitlow, K. Manova and P. Besmer (2000) Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses. EMBO J 19(6): 1312-26. 

Abstract
The Kit receptor tyrosine kinase functions in hemato- poiesis, melanogenesis and gametogenesis. Kit receptor-mediated cellular responses include proliferation, survival, adhesion, secretion and differentiation. In mast cells, Kit-mediated recruitment and activation of phosphatidylinositol 3'-kinase (PI 3-kinase) produces phosphatidylinositol 3'-phosphates, plays a critical role in mediating cell adhesion and secretion and has contributory roles in mediating cell survival and proliferation. To investigate the consequences in vivo of blocking Kit-mediated PI 3-kinase activation we have mutated the binding site for the p85 subunit of PI 3-kinase in the Kit gene, using a knock-in strategy. Mutant mice have no pigment deficiency or impairment of steady-state hematopoiesis. However, gametogenesis is affected in several ways and tissue mast cell numbers are affected differentially. While primordial germ cells during embryonic development are not affected, Kit(Y719F)/Kit(Y719F) males are sterile due to a block at the premeiotic stages in spermatogenesis. Furthermore, adult males develop Leydig cell hyperplasia. The Leydig cell hyperplasia implies a role for Kit in Leydig cell differentiation and/or steroidogenesis. In mutant females follicle development is impaired at the cuboidal stages resulting in reduced fertility. Also, adult mutant females develop ovarian cysts and ovarian tubular hyperplasia. Therefore, a block in Kit receptor-mediated PI 3-kinase signaling may be compensated for in hematopoiesis, melanogenesis and primordial germ cell development, but is critical in spermatogenesis and oogenesis. PMID: [10716931] 

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Figures for illustrating the function of this protein/gene
Ref: H. Kissel, I. Timokhina, M. P. Hardy, G. Rothschild, Y. Tajima, V. Soares, M. Angeles, S. R. Whitlow, K. Manova and P. Besmer (2000) Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses. EMBO J 19(6): 1312-26. PMID: [10716931]
Ref: H. Kissel, I. Timokhina, M. P. Hardy, G. Rothschild, Y. Tajima, V. Soares, M. Angeles, S. R. Whitlow, K. Manova and P. Besmer (2000) Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses. EMBO J 19(6): 1312-26. PMID: [10716931]
Ref: H. Kissel, I. Timokhina, M. P. Hardy, G. Rothschild, Y. Tajima, V. Soares, M. Angeles, S. R. Whitlow, K. Manova and P. Besmer (2000) Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses. EMBO J 19(6): 1312-26. PMID: [10716931]
Ref: H. Kissel, I. Timokhina, M. P. Hardy, G. Rothschild, Y. Tajima, V. Soares, M. Angeles, S. R. Whitlow, K. Manova and P. Besmer (2000) Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses. EMBO J 19(6): 1312-26. PMID: [10716931]
Function
Potential channel-forming protein implicated in importof protein precursors into mitochondria (By similarity). 
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Subcellular Location
Mitochondrion outer membrane; Multi-passmembrane protein (By similarity). 
Tissue Specificity
 
Gene Ontology
GO IDGO termEvidence
GO:0005741 C:mitochondrial outer membrane IEA:UniProtKB-SubCell.
GO:0005739 C:mitochondrion IDA:MGI.
GO:0046930 C:pore complex IEA:UniProtKB-KW.
GO:0015288 F:porin activity IEA:UniProtKB-KW.
GO:0008308 F:voltage-gated anion channel activity IEA:InterPro.
GO:0015031 P:protein transport IEA:UniProtKB-KW.
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Interpro
IPR001925;    Porin_Euk.
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Pfam
PF01459;    Porin_3;    1.
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SMART
PROSITE
PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    308       Mitochondrial import receptor subunit
                             TOM40B.
                             /FTId=PRO_0000051537.
REGION      281    308       Required for mitochondrial targeting (By
                             similarity).
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Nucleotide Sequence
Length: 1617 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 308 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
 Gene Symbol Ref Databases
Other Protein-Protein interaction resources
String database  
View Microarray data
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