KHDRBS3 (KH RNA binding domain containing, signal transduction associated 3)

Gene

• Entrez ID: 10656
• Gene name: KH RNA binding domain containing, signal transduction associated 3
• Gene symbol: KHDRBS3
• Synonyms (NCBI Gene): Etle, SALP, SLM-2, SLM2, T-STAR, TSTAR, etoile
• Chromosome: 8
• Chromosome location: 8q24.23

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024397	hsa-miR-215-5p	Microarray	19074876
MIRT026335	hsa-miR-192-5p	Microarray	19074876
MIRT1085246	hsa-miR-1244	CLIP-seq
MIRT1085247	hsa-miR-1305	CLIP-seq
MIRT1085248	hsa-miR-3065-5p	CLIP-seq
MIRT1085249	hsa-miR-3973	CLIP-seq
MIRT1085250	hsa-miR-421	CLIP-seq
MIRT2021730	hsa-miR-548ae	CLIP-seq
MIRT2021731	hsa-miR-548aj	CLIP-seq
MIRT2021732	hsa-miR-548am	CLIP-seq
MIRT2021733	hsa-miR-548x	CLIP-seq
MIRT1085249	hsa-miR-3973	CLIP-seq
MIRT2556041	hsa-miR-520g	CLIP-seq
MIRT2556042	hsa-miR-520h	CLIP-seq
MIRT1085249	hsa-miR-3973	CLIP-seq
MIRT2556041	hsa-miR-520g	CLIP-seq
MIRT2556042	hsa-miR-520h	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IDA	19561594
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	10332027, 10749975, 16189514, 20195357, 21653829, 22365833, 25416956, 25910212, 26871637, 31413325, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	10332027
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0019904	Function	Protein domain specific binding	IPI	10332027, 10749975
GO:0032991	Component	Protein-containing complex	IDA	10332027, 10749975
GO:0042802	Function	Identical protein binding	IDA	10332027, 10749975
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IEA

Other IDs

• MIM: 610421
• HGNC: 18117
• e!Ensembl: ENSG00000131773

Protein

• UniProt ID: O75525
• Protein name: KH domain-containing, RNA-binding, signal transduction-associated protein 3 (RNA-binding protein T-Star) (Sam68-like mammalian protein 2) (SLM-2) (Sam68-like phosphotyrosine protein)
• Protein function: RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA
• PDB: 5EL3, 5ELR, 5ELS, 5ELT, 5EMO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16274	Qua1	4 → 53	Qua1 domain	Domain
  PF00013	KH_1	57 → 120	KH domain	Domain
  PF16568	Sam68-YY	266 → 320	Tyrosine-rich domain of Sam68	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous with higher expression in testis, skeletal muscle and brain. Expressed in the kidney only in podocytes, the glomerular epithelial cells of the kidney. Strongly expressed after meiosis. {ECO:0000269|PubMed:10077576, ECO:00002
• Sequence:

  MEEKYLPELMAEKDSLDPSFTHALRLVNQEIEKFQKGEGKDEEKYIDVVINKNMKLGQKV
  LIPVKQFPKFNFVGKLLGPRGNSLKRLQEETLTKMSILGKGSMRDKAKEEELRKSGEAKY
  FHLNDDLHVLIEVFAPPAEAYARMGHALEEIKKFLIPDYNDEIRQAQLQELTYLNGGSEN
  ADVPVVRGKPTLRTRGVPAPAITRGRGGVTARPVGVVVPRGTPTPRGVLSTRGPVSRGRG
  LLTPRARGVPPTGYRPPPPPPTQETYGEYDYDDGYGTAYDEQSYDSYDNSYSTPAQSGAD
  YYDYGHGLSEETYDSYGQEEWTNSRHKAPSARTAKGVYRDQPYGRY

• Sequence length: 346

Pathways

Reactome:

PTK6 Regulates Proteins Involved in RNA Processing

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
ASPHYXIA NEONATORUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Associate	23923007, 29356399	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	40055377	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Associate	34273561	★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	34273561	★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Associate	19631305	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	28542447	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Associate	19584924	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23923007, 29356399	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	22349460	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	33758106, 35985767	★☆☆☆☆ Found in Text Mining only