• Gene id: 23328

Gene Summary

• Gene Symbol: SASH1   Gene   UCSC   Ensembl
• Aliases: CAPOK, DUH1, SH3D6A, dJ323M4.1
• Gene name: SAM and SH3 domain containing 1
• Alternate names: SAM and SH3 domain-containing protein 1, proline-glutamate repeat-containing protein,
• Gene location: 6q24.3-q25.1 (148193439: 148552049)     Exons: 26     NC_000006.12
• Gene summary(Entrez): This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppresso
• OMIM: 605593

Protein Summary

• Protein general information: O94885  
  • Name: SAM and SH3 domain containing protein 1 (Proline glutamate repeat containing protein)
  • Length: 1247  
  • Mass: 136653
  • Tissue specificity: Expressed ubiquitously, with highest levels in lung, placenta, spleen and thymus. Down-regulated in the majority (74%) of breast tumors in comparison with corresponding normal breast epithelial tissues. Expressed in the epidermis, epid
• Sequence:

  MEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCFS
  DVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKK
  NKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDP
  ADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVL
  DERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSY
  PEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISL
  GKKVKSVKETMRKRMSKKYSSSVSEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQT
  VSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHTDFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNN
  KVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPTFLFNGYEDLDTFKLLEEEDLDE
  LNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKASLLSAKSS
  TEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETL
  EGPQTVDTWPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRF
  SEPQKLTTKKLEGSIAASGRGLSPPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQR
  MQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPSPDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPG
  SPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHAEGIDLTEEPYSDKHGRCGIPEA
  LVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPMYAGTLST
  AGFSTLSQVPSLSHTCLQEAGITEERHIRKLLSAARLFKLPPGPEAM

• Structural information:
  • Protein Domains: (554..61-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (633..69-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (1177..124-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR021090  IPR001660  IPR013761  IPR037627  IPR037630   IPR035720  IPR036028  IPR001452  
  • Prosite: PS50105 PS50002
  • CDD: cd09559 cd09492 cd11967
  • PDB: 2DL0 2EBP
  • PDBsum: 2DL0 2EBP
  • STRING: ENSP00000356437
• Other Databases: GeneCards:  SASH1  Malacards:  SASH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IBA	molecular function
GO:0043507	positive regulation of JUN kinase activity	IBA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IBA	biological process
GO:0001965	G-protein alpha-subunit binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0010632	regulation of epithelial cell migration	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0010595	positive regulation of endothelial cell migration	IDA	biological process
GO:0008022	protein C-terminus binding	IDA	molecular function
GO:1902498	regulation of protein autoubiquitination	IDA	biological process
GO:1900044	regulation of protein K63-linked ubiquitination	IDA	biological process
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IDA	molecular function
GO:0019901	protein kinase binding	IDA	molecular function
GO:0000209	protein polyubiquitination	IDA	biological process
GO:1900745	positive regulation of p38MAPK cascade	IMP	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0043507	positive regulation of JUN kinase activity	IMP	biological process
GO:0031666	positive regulation of lipopolysaccharide-mediated signaling pathway	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IBA	molecular function
GO:0043507	positive regulation of JUN kinase activity	IBA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IBA	biological process
GO:0001965	G-protein alpha-subunit binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0010632	regulation of epithelial cell migration	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0010595	positive regulation of endothelial cell migration	IDA	biological process
GO:0008022	protein C-terminus binding	IDA	molecular function
GO:1902498	regulation of protein autoubiquitination	IDA	biological process
GO:1900044	regulation of protein K63-linked ubiquitination	IDA	biological process
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IDA	molecular function
GO:0019901	protein kinase binding	IDA	molecular function
GO:0000209	protein polyubiquitination	IDA	biological process
GO:1900745	positive regulation of p38MAPK cascade	IMP	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0043507	positive regulation of JUN kinase activity	IMP	biological process
GO:0031666	positive regulation of lipopolysaccharide-mediated signaling pathway	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Dyschromatosis universalis hereditaria	KEGG:H02350
Dyschromatosis universalis hereditaria	KEGG:H02350
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881