Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57143
Gene name Gene Name - the full gene name approved by the HGNC.
AarF domain containing kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADCK1
Synonyms (NCBI Gene) Gene synonyms aliases
MCP2
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620399 19038 ENSG00000063761
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 33824271
Colorectal Neoplasms Associate 33824271
Neoplasms Associate 33824271
Parathyroid Neoplasms Associate 28352668