EPS8L3 (EPS8 signaling adaptor L3)

Gene

• Entrez ID: 79574
• Gene name: EPS8 signaling adaptor L3
• Gene symbol: EPS8L3
• Synonyms (NCBI Gene): EPS8R3, HYPT5, MUHH2
• Chromosome: 1
• Chromosome location: 1p13.3
• Summary: This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding d

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT967406	hsa-miR-1253	CLIP-seq
MIRT967407	hsa-miR-1285	CLIP-seq
MIRT967408	hsa-miR-2861	CLIP-seq
MIRT967409	hsa-miR-3126-5p	CLIP-seq
MIRT967410	hsa-miR-3187-5p	CLIP-seq
MIRT967411	hsa-miR-3199	CLIP-seq
MIRT967412	hsa-miR-326	CLIP-seq
MIRT967413	hsa-miR-330-5p	CLIP-seq
MIRT967414	hsa-miR-378g	CLIP-seq
MIRT967415	hsa-miR-4428	CLIP-seq
MIRT967416	hsa-miR-4461	CLIP-seq
MIRT967417	hsa-miR-4486	CLIP-seq
MIRT967418	hsa-miR-4740-5p	CLIP-seq
MIRT967419	hsa-miR-580	CLIP-seq
MIRT967420	hsa-miR-612	CLIP-seq
MIRT967421	hsa-miR-2467-5p	CLIP-seq
MIRT967422	hsa-miR-3121-3p	CLIP-seq
MIRT967423	hsa-miR-3150a-3p	CLIP-seq
MIRT967424	hsa-miR-3175	CLIP-seq
MIRT967425	hsa-miR-409-5p	CLIP-seq
MIRT967426	hsa-miR-4667-5p	CLIP-seq
MIRT967427	hsa-miR-4700-5p	CLIP-seq
MIRT967428	hsa-miR-876-3p	CLIP-seq
MIRT967429	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	14565974
GO:0005515	Function	Protein binding	IPI	14565974
GO:0005737	Component	Cytoplasm	IDA	14565974
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007266	Process	Rho protein signal transduction	IBA
GO:0032587	Component	Ruffle membrane	IBA
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0042634	Process	Regulation of hair cycle	IMP	23099647
GO:0051015	Function	Actin filament binding	IDA	14565974
GO:1900029	Process	Positive regulation of ruffle assembly	IBA

Other IDs

• MIM: 614989
• HGNC: 21297
• e!Ensembl: ENSG00000198758

Protein

• UniProt ID: Q8TE67
• Protein name: Epidermal growth factor receptor kinase substrate 8-like protein 3 (EPS8-like protein 3) (Epidermal growth factor receptor pathway substrate 8-related protein 3) (EPS8-related protein 3)
• PDB: 1WXT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08416	PTB	28 → 156	Phosphotyrosine-binding domain	Domain
  PF00018	SH3_1	456 → 501	SH3 domain	Domain
  PF18016	SAM_3	520 → 583	SAM domain (Sterile alpha motif)	Domain

• Sequence:

  MSRPSSRAIYLHRKEYSQNLTSEPTLLQHRVEHLMTCKQGSQRVQGPEDALQKLFEMDAQ
  GRVWSQDLILQVRDGWLQLLDIETKEELDSYRLDSIQAMNVALNTCSYNSILSITVQEPG
  LPGTSTLLFQCQEVGAERLKTSLQKALEEELEQRPRLGGLQPGQDRWRGPAMERPLPMEQ
  ARYLEPGIPPEQPHQRTLEHSLPPSPRPLPRHTSAREPSAFTLPPPRRSSSPEDPERDEE
  VLNHVLRDIELFMGKLEKAQAKTSRKKKFGKKNKDQGGLTQAQYIDCFQKIKHSFNLLGR
  LATWLKETSAPELVHILFKSLNFILARCPEAGLAAQVISPLLTPKAINLLQSCLSPPESN
  LWMGLGPAWTTSRADWTGDEPLPYQPTFSDDWQLPEPSSQAPLGYQDPVSLRRGSHRLGS
  TSHFPQEKTHNHDPQPGDPNSRPSSPKPAQPALKMQVLYEFEARNPRELTVVQGEKLEVL
  DHSKRWWLVKNEAGRSGYIPSNILEPLQPGTPGTQGQSPSRVPMLRLSSRPEEVTDWLQA
  ENFSTATVRTLGSLTGSQLLRIRPGELQMLCPQEAPRILSRLEAVRRMLGISP

• Sequence length: 593

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
EPS8L3-related disorder	Benign; Likely benign	rs17598321, rs76425431, rs148185176	RCV003932083 RCV003942136 RCV003968046
Hypotrichosis 5	Uncertain significance	rs774419101, rs1650987435	RCV005400557 RCV001030441

Associations from Text Mining
Disease Name	Relationship Type	References
Disease	Associate	23099647
Huntington Disease	Associate	33049985
Marie Unna congenital hypotrichosis	Associate	23099647
Prostatic Neoplasms	Associate	19223546
Stomach Neoplasms	Associate	37978443