UNC50 (unc-50 inner nuclear membrane RNA binding protein)

Gene

• Entrez ID: 25972
• Gene name: Unc-50 inner nuclear membrane RNA binding protein
• Gene symbol: UNC50
• Synonyms (NCBI Gene): GMH1, HSD23, PDLs22, UNCL, URP
• Chromosome: 2
• Chromosome location: 2q11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048466	hsa-miR-100-5p	CLASH	23622248
MIRT1475425	hsa-miR-1267	CLIP-seq
MIRT1475426	hsa-miR-200b	CLIP-seq
MIRT1475427	hsa-miR-200c	CLIP-seq
MIRT1475428	hsa-miR-429	CLIP-seq
MIRT1475429	hsa-miR-452	CLIP-seq
MIRT1475430	hsa-miR-4676-3p	CLIP-seq
MIRT1475431	hsa-miR-513b	CLIP-seq
MIRT1475432	hsa-miR-514	CLIP-seq
MIRT1475433	hsa-miR-514b-3p	CLIP-seq
MIRT1475434	hsa-miR-642b	CLIP-seq
MIRT1475435	hsa-miR-935	CLIP-seq
MIRT2363539	hsa-miR-1	CLIP-seq
MIRT2363540	hsa-miR-128	CLIP-seq
MIRT2363541	hsa-miR-140-3p	CLIP-seq
MIRT1475426	hsa-miR-200b	CLIP-seq
MIRT1475427	hsa-miR-200c	CLIP-seq
MIRT2363542	hsa-miR-2053	CLIP-seq
MIRT2363543	hsa-miR-206	CLIP-seq
MIRT1475428	hsa-miR-429	CLIP-seq
MIRT1475431	hsa-miR-513b	CLIP-seq
MIRT2363544	hsa-miR-569	CLIP-seq
MIRT2363545	hsa-miR-613	CLIP-seq
MIRT2363546	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0016020	Component	Membrane	IEA
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0034394	Process	Protein localization to cell surface	ISS

Other IDs

• MIM: 617826
• HGNC: 16046
• e!Ensembl: ENSG00000115446

Protein

• UniProt ID: Q53HI1
• Protein name: Protein unc-50 homolog (Periodontal ligament-specific protein 22) (PDLs22) (Protein GMH1 homolog) (hGMH1) (Uncoordinated-like protein)
• Protein function: Involved in the cell surface expression of neuronal nicotinic receptors (By similarity). Binds RNA (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05216	UNC-50	34 → 255	UNC-50 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Present in periodontal ligament fibroblasts (at protein level). {ECO:0000269|PubMed:17004066}.
• Sequence:

  MLPSTSVNSLVQGNGVLNSRDAARHTAGAKRYKYLRRLFRFRQMDFEFAAWQMLYLFTSP
  QRVYRNFHYRKQTKDQWARDDPAFLVLLSIWLCVSTIGFGFVLDMGFFETIKLLLWVVLI
  DCVGVGLLIATLMWFISNKYLVKRQSRDYDVEWGYAFDVHLNAFYPLLVILHFIQLFFIN
  HVILTDTFIGYLVGNTLWLVAVGYYIYVTFLGYSALPFLKNTVILLYPFAPLILLYGLSL
  ALGWNFTHTLCSFYKYRVK

• Sequence length: 259

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
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNC50-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Arthrogryposis	Associate	33820833	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	25738771	★☆☆☆☆ Found in Text Mining only