Gene Gene information from NCBI Gene database.
Entrez ID 57143
Gene name AarF domain containing kinase 1
Gene symbol ADCK1
Synonyms (NCBI Gene)
MCP2
Chromosome 14
Chromosome location 14q24.3
miRNA miRNA information provided by mirtarbase database.
183
miRTarBase ID miRNA Experiments Reference
MIRT017275 hsa-miR-335-5p Microarray 18185580
MIRT767672 hsa-miR-1207-3p CLIP-seq
MIRT767673 hsa-miR-1293 CLIP-seq
MIRT767674 hsa-miR-31 CLIP-seq
MIRT767675 hsa-miR-3612 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 33988507
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620399 19038 ENSG00000063761
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86TW2
Protein name AarF domain-containing protein kinase 1 (EC 2.7.-.-)
Protein function Appears to be essential for maintaining mitochondrial cristae formation and mitochondrial function by acting via YME1L1 in a kinase-independent manner to regulate essential mitochondrial structural proteins OPA1 and IMMT (PubMed:31125351). The a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03109 ABC1 143 259 ABC1 family Family
Sequence
MARKALKLASWTSMALAASGIYFYSNKYLDPNDFGAVRVGRAVATTAVISYDYLTSLKSV
PYGSEEYLQLRSKSWPVFLQVHLRSARRLCELCCANRGTFIKVGQHLGALDYLLPEEYTS
TLKVLHSQAPQSSMQEIRQVIREDLGKEIHDLFQSFDDTPLGTASLAQVHKAVLHDGRTV
AVKVQHPKVRAQSSKDILLMEVLVLAVKQLFPEFEFMWLVDEAKKNLPLELDFLNEGRNA
EKVSQMLRHFDFLKVPRIH
WDLSTERVLLMEFVDGGQVNDRDYMERNKIDVNEISRHLGK
MYSEMIFVNGFVHCDPHPGNVLVRKHPGTGKAEIVLLDHGLYQMLTEEFRLNYCHLWQSL
IWTDMKRVKEYSQRLGAGDLYPLFACMLTARSWDSVNRGISQAPVTATEDLEIRNNAANY
LPQISHLLNHVPRQMLLILKTNDLLRGIEAALGTRASASSFLNMSRCCIRALAEHKKKNT
CSFFRRTQISFSEAFNLWQINLHELILRVKGLKLADRVLALICWLFPAPL
Sequence length 530
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHONDROMALACIA GWAS catalog
★★☆☆☆
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
Carcinogenesis Carcinogenesis Pubtator 33824271 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33824271 Associate
★☆☆☆☆
Found in Text Mining only
Obsessive-Compulsive Disorder Obsessive-Compulsive Disorder GWASCAT_DG 30456828
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Optic Atrophy 1 Optic Atrophy BEFREE 31125351
★☆☆☆☆
Found in Text Mining only
Parathyroid Neoplasms Parathyroid neoplasm Pubtator 28352668 Associate
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 27846195
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 30426252
★☆☆☆☆
Found in Text Mining only