• Gene id: 83930

Gene Summary

• Gene Symbol: STARD3NL   Gene   UCSC   Ensembl
• Aliases: MENTHO
• Gene name: STARD3 N-terminal like
• Alternate names: STARD3 N-terminal-like protein, MLN64 N-terminal domain homolog,
• Gene location: 7p14.1 (42577830: 42572309)     Exons: 9     NC_000017.11
• Gene summary(Entrez): This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node p
• OMIM: 611759

Protein Summary

• Protein general information: O95772  
  • Name: STARD3 N terminal like protein (MLN64 N terminal domain homolog)
  • Length: 234  
  • Mass: 26655
• Sequence:

  MNHLPEDMENALTGSQSSHASLRNIHSINPTQLMARIESYEGREKKGISDVRRTFCLFVTFDLLFVTLLWIIELN
  VNGGIENTLEKEVMQYDYYSSYFDIFLLAVFRFKVLILAYAVCRLRHWWAIALTTAVTSAFLLAKVILSKLFSQG
  AFGYVLPIISFILAWIETWFLDFKVLPQEAEEENRLLIVQDASERAALIPGGLSDGQFYSPPESEAGSEEAEEKQ
  DSEKPLLEL

• Structural information:
  • Protein Domains: (48..21-)
    (/note="MENTAL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00770"-)
  • Interpro: IPR019498  
  • Prosite: PS51439
  • STRING: ENSP00000009041
• Other Databases: GeneCards:  STARD3NL  Malacards:  STARD3NL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042803	protein homodimerization activity	IDA	molecular function
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:0015485	cholesterol binding	IDA	molecular function
GO:0099044	vesicle tethering to endoplasmic reticulum	IDA	biological process
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:0005768	endosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006700	C21-steroid hormone biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044232	organelle membrane contact site	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray