Gene Gene information from NCBI Gene database.
Entrez ID 114897
Gene name C1q and TNF related 1
Gene symbol C1QTNF1
Synonyms (NCBI Gene)
CTRP1GIPZSIG37
Chromosome 17
Chromosome location 17q25.3
miRNA miRNA information provided by mirtarbase database.
143
miRTarBase ID miRNA Experiments Reference
MIRT019162 hsa-miR-335-5p Microarray 18185580
MIRT030279 hsa-miR-26b-5p Microarray 19088304
MIRT842202 hsa-miR-3120-3p CLIP-seq
MIRT842203 hsa-miR-3163 CLIP-seq
MIRT842204 hsa-miR-340 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12409230, 16189514, 25416956, 25910212, 32296183
GO:0005518 Function Collagen binding IDA 16195328
GO:0005576 Component Extracellular region IEA
GO:0005581 Component Collagen trimer IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610365 14324 ENSG00000173918
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXJ1
Protein name Complement C1q tumor necrosis factor-related protein 1 (G protein-coupled receptor-interacting protein) (GIP)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 97 144 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 147 275 C1q domain Domain
Sequence
Sequence length 281
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 30948746
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 34334589 Associate
★☆☆☆☆
Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia Cushing`s Syndrome BEFREE 14767469
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22112810
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22112810
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11158012, 12099397, 16087722
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 11994328, 12099397, 28931750, 8784063, 9745416, 9888586
★☆☆☆☆
Found in Text Mining only
Adrenal hyperplasia Adrenal hyperplasia BEFREE 10443649, 15705925
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 1325608 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 26198021 Associate
★☆☆☆☆
Found in Text Mining only