CRTAC1 (cartilage acidic protein 1)

Gene

• Entrez ID: 55118
• Gene name: Cartilage acidic protein 1
• Gene symbol: CRTAC1
• Synonyms (NCBI Gene): ASPIC, ASPIC1, CEP-68, CEP68, LOTUS
• Chromosome: 10
• Chromosome location: 10q24.2
• Summary: This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in cultur

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT910550	hsa-miR-1182	CLIP-seq
MIRT910551	hsa-miR-1193	CLIP-seq
MIRT910552	hsa-miR-1197	CLIP-seq
MIRT910553	hsa-miR-2110	CLIP-seq
MIRT910554	hsa-miR-3117-5p	CLIP-seq
MIRT910555	hsa-miR-3150a-3p	CLIP-seq
MIRT910556	hsa-miR-3175	CLIP-seq
MIRT910557	hsa-miR-3545-3p	CLIP-seq
MIRT910558	hsa-miR-3664-3p	CLIP-seq
MIRT910559	hsa-miR-4436a	CLIP-seq
MIRT910560	hsa-miR-4680-5p	CLIP-seq
MIRT910561	hsa-miR-4728-5p	CLIP-seq
MIRT910562	hsa-miR-490-5p	CLIP-seq
MIRT910563	hsa-miR-510	CLIP-seq
MIRT910564	hsa-miR-939	CLIP-seq
MIRT1969926	hsa-miR-2682	CLIP-seq
MIRT1969927	hsa-miR-449c	CLIP-seq
MIRT1969928	hsa-miR-645	CLIP-seq
MIRT1969929	hsa-miR-940	CLIP-seq
MIRT2447688	hsa-miR-1260	CLIP-seq
MIRT2447689	hsa-miR-1260b	CLIP-seq
MIRT2447690	hsa-miR-188-3p	CLIP-seq
MIRT2447691	hsa-miR-3156-3p	CLIP-seq
MIRT2447692	hsa-miR-4301	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0007413	Process	Axonal fasciculation	IBA
GO:0007413	Process	Axonal fasciculation	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0030426	Component	Growth cone	IEA
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 606276
• HGNC: 14882
• e!Ensembl: ENSG00000095713

Protein

• UniProt ID: Q9NQ79
• Protein name: Cartilage acidic protein 1 (68 kDa chondrocyte-expressed protein) (CEP-68) (ASPIC)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13517	VCBS	62 → 132	Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella	Repeat
  PF13517	VCBS	253 → 310	Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella	Repeat
  PF13517	VCBS	299 → 363	Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella	Repeat
  PF07593	UnbV_ASPIC	458 → 521	ASPIC and UnbV	Family
  PF07645	EGF_CA	559 → 605	Calcium-binding EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the interterritorial matrix of articular deep zone cartilage (at protein level). Isoform 1 and isoform 2 are expressed in brain. Isoform 1 is detected in lung and chondrocytes. Detected in cartilage, bone, cultured chondro
• Sequence:

  MAPSADPGMSRMLPFLLLLWFLPITEGSQRAEPMFTAVTNSVLPPDYDSNPTQLNYGVAV
  TDVDHDGDFEIVVAGYNGPNLVLKYDRAQKRLVNIAVDERSSPYYALRDRQGNAIGVTAC
  DIDGDGREEIYFLNTNNAFSGVATYTDKLFKFRNNRWEDILSDEVNVARGVASLFAGRSV
  ACVDRKGSGRYSIYIANYAYGNVGPDALIEMDPEASDLSRGILALRDVAAEAGVSKYTGG
  RGVSVGPILSSSASDIFCDNENGPNFLFHNRGDGTFVDAAASAGVDDPHQHGRGVALADF
  NRDGKVDIVYGNWNGPHRLYLQMSTHGKVRFRDIASPKFSMPSPVRTVITADFDNDQELE
  IFFNNIAYRSSSANRLFRVIRREHGDPLIEELNPGDALEPEGRGTGGVVTDFDGDGMLDL
  ILSHGESMAQPLSVFRGNQGFNNNWLRVVPRTRFGAFARGAKVVLYTKKSGAHLRIIDGG
  SGYLCEMEPVAHFGLGKDEASSVEVTWPDGKMVSRNVASGEMNSVLEILYPRDEDTLQDP
  APLECGQGFSQQENGHCMDTNECIQFPFVCPRDKPVCVNTYGSYRCRTNKKCSRGYEPNE
  DGTACVGTLGQSPGPRPTTPTAAAATAAAAAAAGAATAAPVLVDGDLNLGSVVKESCEPS
  C

• Sequence length: 661

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
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	29929532	Associate	★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	24618698	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28506942		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21072201, 24618698		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	21072201	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	28416818, 29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	29545482	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27415616		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29632382		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity	Hypersensitivity	Pubtator	24618698	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	39289672	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31568528		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	19738042		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	19738042	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35606786	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33982893, 35924962	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	33982893	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	33982893	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	31568528		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	31568528		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37667413	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	24618698	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	15215745	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34818994, 38172792	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	Pubtator	24618698	Associate	★☆☆☆☆ Found in Text Mining only