ENTREP1 (endosomal transmembrane epsin interactor 1)

Gene

• Entrez ID: 9413
• Gene name: Endosomal transmembrane epsin interactor 1
• Gene symbol: ENTREP1
• Synonyms (NCBI Gene): C9orf61, ENTREP, FAM189A2, X123
• Chromosome: 9
• Chromosome location: 9q21.12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024593	hsa-miR-215-5p	Microarray	19074876
MIRT026758	hsa-miR-192-5p	Microarray	19074876
MIRT982521	hsa-miR-3074-5p	CLIP-seq
MIRT982522	hsa-miR-4722-3p	CLIP-seq
MIRT2225372	hsa-miR-140-3p	CLIP-seq
MIRT2225373	hsa-miR-3619-3p	CLIP-seq
MIRT2225374	hsa-miR-4776-5p	CLIP-seq
MIRT2225375	hsa-miR-4800-5p	CLIP-seq
MIRT2449270	hsa-miR-2467-3p	CLIP-seq
MIRT2449271	hsa-miR-3125	CLIP-seq
MIRT2449272	hsa-miR-3185	CLIP-seq
MIRT2449273	hsa-miR-3916	CLIP-seq
MIRT2449274	hsa-miR-4530	CLIP-seq
MIRT2449275	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 29892012, 31515488, 33961781, 34927784, 35044719
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IDA	34927784
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0022401	Process	Negative adaptation of signaling pathway	IMP	34927784
GO:0031623	Process	Receptor internalization	IMP	34927784
GO:0031901	Component	Early endosome membrane	IDA	34927784
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IDA	34927784
GO:0031902	Component	Late endosome membrane	IEA
GO:0038160	Process	CXCL12-activated CXCR4 signaling pathway	IDA	28978524
GO:0038160	Process	CXCL12-activated CXCR4 signaling pathway	IMP	34927784
GO:0055038	Component	Recycling endosome membrane	IDA	34927784
GO:0055038	Component	Recycling endosome membrane	IEA
GO:1990757	Function	Ubiquitin ligase activator activity	IDA	34927784

Other IDs

• MIM: 607710
• HGNC: 24820
• e!Ensembl: ENSG00000135063

Protein

• UniProt ID: Q15884
• Protein name: Endosomal transmembrane epsin interactor 1 (Endosomal transmembrane binding with epsin)
• Protein function: Functions as an activator of the E3 ubiquitin protein ligase ITCH in the ubiquitination of the CXCL12-activated CXCR4 receptor. Thereby, triggers CXCR4 endocytosis and desensitization, negatively regulating the CXCL12/CXCR4 signaling pathway. {E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04103	CD20	1 → 109	CD20-like family	Family

• Tissue specificity: TISSUE SPECIFICITY: Prominently expressed in muscle. {ECO:0000269|PubMed:7951235}.
• Sequence:

  MILLVNLFVLLSVVCVLLNLAGFILGCQGAQFVSSVPRCDLVDLGEGKICFCCEEFQPAK
  CTDKENALKLFPVQPCSAVHLLLKKVLFALCALNALTTTVCLVAAALRYLQIFATRRSCI
  DESQISAEEAEDHGRIPDPDDFVPPVPPPSYFATFYSCTPRMNRRMVGPDVIPLPHIYGA
  RIKGVEVFCPLDPPPPYEAVVSQMDQEQGSSFQMSEGSEAAVIPLDLGCTQVTQDGDIPN
  IPAEENASTSTPSSTLVRPIRSRRALPPLRTRSKSDPVLHPSEERAAPVLSCEAATQTER
  RLDLAAVTLRRGLRSRASRCRPRSLIDYKSYMDTKLLVARFLEQSSCTMTPDIHELVENI
  KSVLKSDEEHMEEAITSASFLEQIMAPLQPSTSRAHKLPSRRQPGLLHLQSCGDLHTFTP
  AGRPRAERRPRRVEAERPHSLIGVIRETVL

• Sequence length: 450

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	34927784	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29695241		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29695241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	29695241		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	38275610	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	40243508	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	24055526	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34337010	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	24055526		★☆☆☆☆ Found in Text Mining only