• Gene id: 10040

Gene Summary

• Gene Symbol: TOM1L1   Gene   UCSC   Ensembl
• Aliases: SRCASM
• Gene name: target of myb1 like 1 membrane trafficking protein
• Alternate names: TOM1-like protein 1, src-activating and signaling molecule protein, target of Myb-like protein 1,
• Gene location: 17q22 (54900690: 54961966)     Exons: 17     NC_000017.11
• OMIM: 604701

Protein Summary

• Protein general information: O75674  
  • Name: TOM1 like protein 1 (Src activating and signaling molecule protein) (Target of Myb like protein 1)
  • Length: 476  
  • Mass: 52989
• Sequence:

  MAFGKSHRDPYATSVGHLIEKATFAGVQTEDWGQFMHICDIINTTQDGPKDAVKALKKRISKNYNHKEIQLTLSL
  IDMCVQNCGPSFQSLIVKKEFVKENLVKLLNPRYNLPLDIQNRILNFIKTWSQGFPGGVDVSEVKEVYLDLVKKG
  VQFPPSEAEAETARQETAQISSNPPTSVPTAPALSSVIAPKNSTVTLVPEQIGKLHSELDMVKMNVRVMSAILME
  NTPGSENHEDIELLQKLYKTGREMQERIMDLLVVVENEDVTVELIQVNEDLNNAILGYERFTRNQQRILEQNKNQ
  KEATNTTSEPSAPSQDLLDLSPSPRMPRATLGELNTMNNQLSGLNFSLPSSDVTNNLKPSLHPQMNLLALENTEI
  PPFAQRTSQNLTSSHAYDNFLEHSNSVFLQPVSLQTIAAAPSNQSLPPLPSNHPAMTKSDLQPPNYYEVMEFDPL
  APAVTTEAIYEEIDAHQHKGAQNDGD

• Structural information:
  • Protein Domains: (22..15-)
    (/note="VHS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00218-)
    (200..28-)
    (/note="GAT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00373"-)
  • Interpro: IPR008942  IPR004152  IPR038425  IPR014645  IPR027428   IPR002014  
  • Prosite: PS50909 PS50179
  • PDB: 3RRU
  • PDBsum: 3RRU
  • STRING: ENSP00000460823
• Other Databases: GeneCards:  TOM1L1  Malacards:  TOM1L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043130	ubiquitin binding	TAS	molecular function
GO:0005768	endosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043162	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	NAS	biological process
GO:0030295	protein kinase activator activity	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005764	lysosome	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005795	Golgi stack	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0031954	positive regulation of protein autophosphorylation	IDA	biological process
GO:0005768	endosome	IDA	cellular component
GO:2000278	regulation of DNA biosynthetic process	IDA	NOT|biological process
GO:0045839	negative regulation of mitotic nuclear division	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0032147	activation of protein kinase activity	IDA	biological process
GO:0030276	clathrin binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R