• Gene id: 10948

Gene Summary

• Gene Symbol: STARD3   Gene   UCSC   Ensembl
• Aliases: CAB1, MLN64, es64
• Gene name: StAR related lipid transfer domain containing 3
• Alternate names: stAR-related lipid transfer protein 3, MLN 64, START domain-containing protein 3, StAR-related lipid transfer (START) domain containing 3, metastatic lymph node gene 64 protein, metastatic lymph node protein 64, steroidogenic acute regulatory protein related,
• Gene location: 17q12 (39637079: 39664200)     Exons: 16     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late
• OMIM: 606975

SNPs

rs1877031

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.39657827G>A
NC_000017.10   g.37814080G>A
NM_006804.4   c.350G>A
NM_006804.3   c.350G>A
XM_017024041.2   c.350G>A
NM_001165937.1   c.350G>A
XM_024450549.1   c.-418G>A
NM_001165938.1   c.350G>A
NP_006795.3   p.Arg117Gln
XP_016879530.1   p.Arg117Gln
NP_001  

Protein Summary

• Protein general information: Q14849  
  • Name: StAR related lipid transfer protein 3 (Metastatic lymph node gene 64 protein) (MLN 64) (Protein CAB1) (START domain containing protein 3) (StARD3)
  • Length: 445  
  • Mass: 50502
  • Tissue specificity: Expressed in retina. {ECO
• Sequence:

  MSKLPRELTRDLERSLPAVASLGSSLSHSQSLSSHLLPPPEKRRAISDVRRTFCLFVTFDLLFISLLWIIELNTN
  TGIRKNLEQEIIQYNFKTSFFDIFVLAFFRFSGLLLGYAVLRLRHWWVIAVTTLVSSAFLIVKVILSELLSKGAF
  GYLLPIVSFVLAWLETWFLDFKVLPQEAEEERWYLAAQVAVARGPLLFSGALSEGQFYSPPESFAGSDNESDEEV
  AGKKSFSAQEREYIRQGKEATAVVDQILAQEENWKFEKNNEYGDTVYTIEVPFHGKTFILKTFLPCPAELVYQEV
  ILQPERMVLWNKTVTACQILQRVEDNTLISYDVSAGAAGGVVSPRDFVNVRRIERRRDRYLSSGIATSHSAKPPT
  HKYVRGENGPGGFIVLKSASNPRVCTFVWILNTDLKGRLPRYLIHQSLAATMFEFAFHLRQRISELGARA

• Structural information:
  • Protein Domains: (46..21-)
    (/note="MENTAL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00770-)
    (230..44-)
    (/note="START-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00197"-)
  • Interpro: IPR019498  IPR000799  IPR029867  IPR023393  IPR002913  
  • Prosite: PS51439 PS50848
  • CDD: cd08906
  • PDB: 1EM2 2I92 5I9J
  • PDBsum: 1EM2 2I92 5I9J
  • STRING: ENSP00000337446
• Other Databases: GeneCards:  STARD3  Malacards:  STARD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IDA	colocalizes with
GO:0031902	late endosome membrane	IDA	cellular component
GO:0044232	organelle membrane contact site	IDA	cellular component
GO:0030301	cholesterol transport	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	colocalizes with
GO:0031902	late endosome membrane	IDA	cellular component
GO:0044232	organelle membrane contact site	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0099044	vesicle tethering to endoplasmic reticulum	IDA	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0099044	vesicle tethering to endoplasmic reticulum	IDA	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0140284	endoplasmic reticulum-endosome membrane contact site	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:0008289	lipid binding	IEA	molecular function
GO:0005770	late endosome	IEA	cellular component
GO:0015485	cholesterol binding	IEA	molecular function
GO:0120020	cholesterol transfer activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006839	mitochondrial transport	TAS	biological process
GO:0008202	steroid metabolic process	TAS	biological process
GO:0008203	cholesterol metabolic process	TAS	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0006700	C21-steroid hormone biosynthetic process	TAS	biological process
GO:0005829	cytosol	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:0006701	progesterone biosynthetic process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0044232	organelle membrane contact site	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq