• Gene id: 9788

Gene Summary

• Gene Symbol: MTSS1   Gene   UCSC   Ensembl
• Aliases: MIM, MIMA, MIMB
• Gene name: MTSS I-BAR domain containing 1
• Alternate names: protein MTSS 1, MTSS1, I-BAR domain containing, metastasis suppressor 1, metastasis suppressor YGL-1, metastasis suppressor protein 1, missing in metastasis protein,
• Gene location: 8q24.13 (124728506: 124550769)     Exons: 19     NC_000008.11
• OMIM: 608486

Protein Summary

• Protein general information: O43312  
  • Name: Protein MTSS 1 (Metastasis suppressor YGL 1) (Metastasis suppressor protein 1) (Missing in metastasis protein)
  • Length: 755  
  • Mass: 82251
  • Tissue specificity: Expressed in many tissues, including spleen, thymus, prostate, testis, uterus, colon, and peripheral blood. {ECO
• Sequence:

  MEAVIEKECSALGGLFQTIISDMKGSYPVWEDFINKAGKLQSQLRTTVVAAAAFLDAFQKVADMATNTRGGTREI
  GSALTRMCMRHRSIEAKLRQFSSALIDCLINPLQEQMEEWKKVANQLDKDHAKEYKKARQEIKKKSSDTLKLQKK
  AKKGRGDIQPQLDSALQDVNDKYLLLEETEKQAVRKALIEERGRFCTFISMLRPVIEEEISMLGEITHLQTISED
  LKSLTMDPHKLPSSSEQVILDLKGSDYSWSYQTPPSSPSTTMSRKSSVCSSLNSVNSSDSRSSGSHSHSPSSHYR
  YRSSNLAQQAPVRLSSVSSHDSGFISQDAFQSKSPSPMPPEAPNQLSNGFSHYSLSSESHVGPTGAGLFPHCLPA
  SRLLPRVTSVHLPDYAHYYTIGPGMFPSSQIPSWKDWAKPGPYDQPLVNTLQRRKEKREPDPNGGGPTTASGPPA
  AAEEAQRPRSMTVSAATRPGEEMEACEELALALSRGLQLDTQRSSRDSLQCSSGYSTQTTTPCCSEDTIPSQVSD
  YDYFSVSGDQEADQQEFDKSSTIPRNSDISQSYRRMFQAKRPASTAGLPTTLGPAMVTPGVATIRRTPSTKPSVR
  RGTIGAGPIPIKTPVIPVKTPTVPDLPGVLPAPPDGPEERGEHSPESPSVGEGPQGVTSMPSSMWSGQASVNPPL
  PGPKPSIPEEHRQAIPESEAEDQEREPPSATVSPGQIPESDPADLSPRDTPQGEDMLNAIRRGVKLKKTTTNDRS
  APRFS

• Structural information:
  • Protein Domains: (1..25-)
    (/note="IMD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00668-)
    (727..74-)
    (/note="WH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406"-)
  • Interpro: IPR027267  IPR013606  IPR027682  IPR030127  IPR003124  
  • Prosite: PS51338 PS51082
  • PDB: 2D1K
  • PDBsum: 2D1K
  • DIP: 17022
  • STRING: ENSP00000322804
• Other Databases: GeneCards:  MTSS1  Malacards:  MTSS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0007009	plasma membrane organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0003785	actin monomer binding	IDA	molecular function
GO:2001013	epithelial cell proliferation involved in renal tubule morphogenesis	ISS	biological process
GO:0072102	glomerulus morphogenesis	ISS	biological process
GO:0030139	endocytic vesicle	TAS	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	TAS	biological process
GO:0050680	negative regulation of epithelial cell proliferation	ISS	biological process
GO:0030036	actin cytoskeleton organization	TAS	biological process
GO:0071498	cellular response to fluid shear stress	ISS	biological process
GO:0007155	cell adhesion	NAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0072160	nephron tubule epithelial cell differentiation	ISS	biological process
GO:0061333	renal tubule morphogenesis	ISS	biological process
GO:0030035	microspike assembly	NAS	biological process
GO:0001726	ruffle	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray