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:0004674 Function Protein serine/threonine kinase activity IEA
GO:0005524 Function ATP binding IEA
GO:0005576 Component Extracellular region IEA
GO:0005743 Component Mitochondrial inner membrane IBA 21873635
GO:0006468 Process Protein phosphorylation IEA
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
27846195
Unknown
Disease term Disease name Evidence References Source
Obsessive-Compulsive Disorder Obsessive-Compulsive Disorder GWAS
Mental Depression Mental Depression GWAS
Alzheimer disease Alzheimer disease GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 33824271
Colorectal Neoplasms Associate 33824271
Neoplasms Associate 33824271
Parathyroid Neoplasms Associate 28352668