PSORS1C1 (psoriasis susceptibility 1 candidate 1)

Gene

• Entrez ID: 170679
• Gene name: Psoriasis susceptibility 1 candidate 1
• Gene symbol: PSORS1C1
• Synonyms (NCBI Gene): C6orf16, SEEK1
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016974	hsa-miR-335-5p	Microarray	18185580
MIRT016974	hsa-miR-335-5p	Microarray	18185580
MIRT2079731	hsa-miR-4514	CLIP-seq
MIRT2079732	hsa-miR-4645-5p	CLIP-seq
MIRT2079733	hsa-miR-4673	CLIP-seq
MIRT2079734	hsa-miR-4692	CLIP-seq
MIRT2079735	hsa-miR-499a-5p	CLIP-seq
MIRT2079736	hsa-miR-617	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183

Other IDs

• MIM: 613525
• HGNC: 17202
• e!Ensembl: ENSG00000204540

Protein

• UniProt ID: Q9UIG5
• Protein name: Psoriasis susceptibility 1 candidate gene 1 protein (Protein SEEK1)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15357	SEEK1	4 → 152	Psoriasis susceptibility 1 candidate 1	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skin. Also found in heart, placenta, liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:12930300}.
• Sequence:

  MTCTDQKSHSQRALGTQTPALQGPQLLNTDPSSEETRPPHVNPDRLCHMEPANHFWHAGD
  LQAMISKEFHLAATQDDCRKGRTQEDILVPSSHPELFASVLPMAPEEAARLQQPQPLPPP
  SGIHLSASRTLAPTLLYSSPPSHSPFGLSSLI

• Sequence length: 152

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
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX OF SCALP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORS1C1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLERODERMA, SYSTEMIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis	Arthritis	BEFREE	15708881		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	15708881	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27342690, 28107378	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	15708881		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24406073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	24406073	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	27611488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	GWASCAT_DG	23001997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	GWASDB_DG	23001997, 23041938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CTD_human_DG	23396137		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21949713		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	23144326		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15301859		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASDB_DG	21900946		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASCAT_DG	26151496		★☆☆☆☆ Found in Text Mining only
Hypotrichosis Simplex of Scalp	Hypotrichosis simplex	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	Pubtator	32421744	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	30662464		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31518089	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Cutaneous	Lupus Erythematosus	GWASCAT_DG	25827949		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30626913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	22899653		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	GWASCAT_DG	21323541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASDB_DG	23955597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	23955597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	24449210	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	GWASDB_DG	23055271		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	12930300, 15301859, 15708881, 16029332, 23769905, 29589160		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	12930300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21949713	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23769905, 27342690, 28107378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 30285260, 30626913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	GWASCAT_DG	21801394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	GWASDB_DG	21801394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	21750679, 22896740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	21750679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	CTD_human_DG	21750679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASDB_DG	21750679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	GWASCAT_DG	21801394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations