• Gene id: 22908

Gene Summary

• Gene Symbol: SACM1L   Gene   UCSC   Ensembl
• Aliases: SAC1
• Gene name: SAC1 like phosphatidylinositide phosphatase
• Alternate names: phosphatidylinositide phosphatase SAC1, SAC1 suppressor of actin mutations 1 like, suppressor of actin 1, suppressor of actin mutations 1-like protein,
• Gene location: 3p21.31 (45689361: 45745408)     Exons: 26     NC_000003.12
• Gene summary(Entrez): This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3
• OMIM: 606569

Protein Summary

• Protein general information: Q9NTJ5  
  • Name: Phosphatidylinositide phosphatase SAC1 (EC 3.1.3. ) (Suppressor of actin mutations 1 like protein)
  • Length: 587  
  • Mass: 66967
  • Tissue specificity: Detected in heart, brain, lung, liver, kidney, pancreas and testis. {ECO
• Sequence:

  MATAAYEQLKLHITPEKFYVEACDDGADDVLTIDRVSTEVTLAVKKDVPPSAVTRPIFGILGTIHLVAGNYLIVI
  TKKIKVGEFFSHVVWKATDFDVLSYKKTMLHLTDIQLQDNKTFLAMLNHVLNVDGFYFSTTYDLTHTLQRLSNTS
  PEFQEMSLLERADQRFVWNGHLLRELSAQPEVHRFALPVLHGFITMHSCSINGKYFDWILISRRSCFRAGVRYYV
  RGIDSEGHAANFVETEQIVHYNGSKASFVQTRGSIPVFWSQRPNLKYKPLPQISKVANHMDGFQRHFDSQVIIYG
  KQVIINLINQKGSEKPLEQTFATMVSSLGSGMMRYIAFDFHKECKNMRWDRLSILLDQVAEMQDELSYFLVDSAG
  QVVANQEGVFRSNCMDCLDRTNVIQSLLARRSLQAQLQRLGVLHVGQKLEEQDEFEKIYKNAWADNANACAKQYA
  GTGALKTDFTRTGKRTHLGLIMDGWNSMIRYYKNNFSDGFRQDSIDLFLGNYSVDELESHSPLSVPRDWKFLALP
  IIMVVAFSMCIICLLMAGDTWTETLAYVLFWGVASIGTFFIILYNGKDFVDAPRLVQKEKID

• Structural information:
  • Protein Domains: (122..45-)
    (/note="SAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00183"-)
  • Interpro: IPR002013  
  • Prosite: PS50275
  • STRING: ENSP00000373713
• Other Databases: GeneCards:  SACM1L  Malacards:  SACM1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IDA	cellular component
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity	IDA	molecular function
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity	IDA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity	IDA	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:0043812	phosphatidylinositol-4-phosphate phosphatase activity	IMP	molecular function
GO:0042578	phosphoric ester hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004438	phosphatidylinositol-3-phosphatase activity	IEA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	TAS	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0034596	phosphatidylinositol phosphate 4-phosphatase activity	TAS	molecular function
GO:0034596	phosphatidylinositol phosphate 4-phosphatase activity	TAS	molecular function
GO:0005794	Golgi apparatus	IDA	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: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: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: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:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0016791	phosphatase activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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