ISM1 (isthmin 1)

Gene

• Entrez ID: 140862
• Gene name: Isthmin 1
• Gene symbol: ISM1
• Synonyms (NCBI Gene): C20orf82, ISM, Isthmin, bA149I18.1, dJ1077I2.1
• Chromosome: 20
• Chromosome location: 20p12.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT667813	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT667812	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT667811	hsa-miR-6083	HITS-CLIP	23824327
MIRT667813	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT667812	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT667811	hsa-miR-6083	HITS-CLIP	23824327
MIRT740130	hsa-miR-2052	CLIP-seq
MIRT1072761	hsa-miR-2053	CLIP-seq
MIRT740131	hsa-miR-4446-5p	CLIP-seq
MIRT740132	hsa-miR-885-5p	CLIP-seq
MIRT1922790	hsa-miR-1827	CLIP-seq
MIRT1922791	hsa-miR-4691-5p	CLIP-seq
MIRT1922792	hsa-miR-885-3p	CLIP-seq
MIRT2451969	hsa-miR-4328	CLIP-seq
MIRT2451970	hsa-miR-520d-5p	CLIP-seq
MIRT2451971	hsa-miR-524-5p	CLIP-seq
MIRT2553247	hsa-miR-18a	CLIP-seq
MIRT2553248	hsa-miR-18b	CLIP-seq
MIRT2553249	hsa-miR-299-5p	CLIP-seq
MIRT2553250	hsa-miR-3143	CLIP-seq
MIRT2553251	hsa-miR-338-3p	CLIP-seq
MIRT2553252	hsa-miR-3672	CLIP-seq
MIRT2553253	hsa-miR-4477b	CLIP-seq
MIRT2553254	hsa-miR-4530	CLIP-seq
MIRT2553255	hsa-miR-4735-3p	CLIP-seq
MIRT2553256	hsa-miR-4761-5p	CLIP-seq
MIRT2553257	hsa-miR-508-5p	CLIP-seq
MIRT2553258	hsa-miR-543	CLIP-seq
MIRT2553259	hsa-miR-659	CLIP-seq
MIRT2553260	hsa-miR-766	CLIP-seq
MIRT2682929	hsa-miR-1268	CLIP-seq
MIRT2682930	hsa-miR-1268b	CLIP-seq
MIRT2553247	hsa-miR-18a	CLIP-seq
MIRT2553248	hsa-miR-18b	CLIP-seq
MIRT740130	hsa-miR-2052	CLIP-seq
MIRT2553249	hsa-miR-299-5p	CLIP-seq
MIRT2553250	hsa-miR-3143	CLIP-seq
MIRT2553251	hsa-miR-338-3p	CLIP-seq
MIRT2553252	hsa-miR-3672	CLIP-seq
MIRT2682931	hsa-miR-4307	CLIP-seq
MIRT2553253	hsa-miR-4477b	CLIP-seq
MIRT2553254	hsa-miR-4530	CLIP-seq
MIRT2682932	hsa-miR-4666-5p	CLIP-seq
MIRT2553255	hsa-miR-4735-3p	CLIP-seq
MIRT2553256	hsa-miR-4761-5p	CLIP-seq
MIRT2553257	hsa-miR-508-5p	CLIP-seq
MIRT2682933	hsa-miR-541	CLIP-seq
MIRT2553258	hsa-miR-543	CLIP-seq
MIRT2682934	hsa-miR-585	CLIP-seq
MIRT2682935	hsa-miR-654-5p	CLIP-seq
MIRT2553259	hsa-miR-659	CLIP-seq
MIRT2553260	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IBA

Other IDs

• MIM: 615793
• HGNC: 16213
• e!Ensembl: ENSG00000101230

Protein

• UniProt ID: B1AKI9
• Protein name: Isthmin-1
• Protein function: Acts as an angiogenesis inhibitor.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00090	TSP_1	221 → 261	Thrombospondin type 1 domain	Domain
  PF03782	AMOP	293 → 457	AMOP domain	Domain

• Sequence:

  MVRLAAELLLLLGLLLLTLHITVLRGSGAADGPDAAAGNASQAQLQNNLNVGSDTTSETS
  FSLSKEAPREHLDHQAAHQPFPRPRFRQETGHPSLQRDFPRSFLLDLPNFPDLSKADING
  QNPNIQVTIEVVDGPDSEADKDQHPENKPSWSVPSPDWRAWWQRSLSLARANSGDQDYKY
  DSTSDDSNFLNPPRGWDHTAPGHRTFETKDQPEYDSTDGEGDWSLWSVCSVTCGNGNQKR
  TRSCGYACTATESRTCDRPNCPGIEDTFRTAATEVSLLAGSEEFNATKLFEVDTDSCERW
  MSCKSEFLKKYMHKVMNDLPSCPCSYPTEVAYSTADIFDRIKRKDFRWKDASGPKEKLEI
  YKPTARYCIRSMLSLESTTLAAQHCCYGDNMQLITRGKGAGTPNLISTEFSAELHYKVDV
  LPWIICKGDWSRYNEARPPNNGQKCTESPSDEDYIKQFQEAREY

• Sequence length: 464

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISM1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ 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	33461604	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	29162626	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	29162626	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31513891		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	40011820	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	40011820	Stimulate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	40011820	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	28775983, 30536695		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31207319		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24810858		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24464222		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31513891		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	29341334, 30536695		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31731264		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	38066623	Associate	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	29162626	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29112001		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24810858		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33196683	Associate	★☆☆☆☆ Found in Text Mining only