ADCK1_HUMAN
ID ADCK1_HUMAN Reviewed; 530 AA.
AC Q86TW2; B3KUD5; Q6PD65; Q9UIE6;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=AarF domain-containing protein kinase 1 {ECO:0000303|PubMed:31125351};
DE EC=2.7.-.- {ECO:0000255|PROSITE-ProRule:PRU00159};
DE Flags: Precursor;
GN Name=ADCK1 {ECO:0000303|PubMed:31125351};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-93 (ISOFORM 1).
RC TISSUE=Placenta;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP FUNCTION, AND MUTAGENESIS OF ALA-164; LYS-183 AND ASP-315.
RX PubMed=31125351; DOI=10.1371/journal.pgen.1008184;
RA Yoon W., Hwang S.H., Lee S.H., Chung J.;
RT "Drosophila ADCK1 is critical for maintaining mitochondrial structures and
RT functions in the muscle.";
RL PLoS Genet. 15:E1008184-E1008184(2019).
CC -!- FUNCTION: Appears to be essential for maintaining mitochondrial cristae
CC formation and mitochondrial function by acting via YME1L1 in a kinase-
CC independent manner to regulate essential mitochondrial structural
CC proteins OPA1 and IMMT (PubMed:31125351). The action of this enzyme is
CC not yet clear (Probable). It is not known if it has protein kinase
CC activity and what type of substrate it would phosphorylate (Ser, Thr or
CC Tyr) (Probable). {ECO:0000269|PubMed:31125351, ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q86TW2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86TW2-2; Sequence=VSP_020885;
CC Name=3;
CC IsoId=Q86TW2-3; Sequence=VSP_046794;
CC -!- SIMILARITY: Belongs to the protein kinase superfamily. ADCK protein
CC kinase family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD62620.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAD62620.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
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DR EMBL; AK096919; BAG53397.1; -; mRNA.
DR EMBL; AC008372; AAF23326.1; -; Genomic_DNA.
DR EMBL; CH471061; EAW81310.1; -; Genomic_DNA.
DR EMBL; BC058906; AAH58906.1; -; mRNA.
DR EMBL; BX248292; CAD62620.1; ALT_SEQ; mRNA.
DR CCDS; CCDS45144.1; -. [Q86TW2-3]
DR CCDS; CCDS9869.1; -. [Q86TW2-2]
DR RefSeq; NP_001136017.1; NM_001142545.1. [Q86TW2-3]
DR RefSeq; NP_065154.2; NM_020421.3. [Q86TW2-2]
DR AlphaFoldDB; Q86TW2; -.
DR SMR; Q86TW2; -.
DR BioGRID; 121401; 61.
DR IntAct; Q86TW2; 51.
DR STRING; 9606.ENSP00000238561; -.
DR ChEMBL; CHEMBL4105885; -.
DR iPTMnet; Q86TW2; -.
DR PhosphoSitePlus; Q86TW2; -.
DR BioMuta; ADCK1; -.
DR DMDM; 115503784; -.
DR EPD; Q86TW2; -.
DR jPOST; Q86TW2; -.
DR MassIVE; Q86TW2; -.
DR MaxQB; Q86TW2; -.
DR PaxDb; Q86TW2; -.
DR PeptideAtlas; Q86TW2; -.
DR PRIDE; Q86TW2; -.
DR ProteomicsDB; 69740; -. [Q86TW2-1]
DR ProteomicsDB; 69741; -. [Q86TW2-2]
DR ProteomicsDB; 84498; -.
DR Antibodypedia; 26131; 188 antibodies from 28 providers.
DR DNASU; 57143; -.
DR Ensembl; ENST00000238561.10; ENSP00000238561.5; ENSG00000063761.16. [Q86TW2-2]
DR Ensembl; ENST00000341211.5; ENSP00000339663.5; ENSG00000063761.16. [Q86TW2-3]
DR GeneID; 57143; -.
DR KEGG; hsa:57143; -.
DR MANE-Select; ENST00000238561.10; ENSP00000238561.5; NM_020421.4; NP_065154.2. [Q86TW2-2]
DR UCSC; uc001xui.3; human. [Q86TW2-1]
DR CTD; 57143; -.
DR DisGeNET; 57143; -.
DR GeneCards; ADCK1; -.
DR HGNC; HGNC:19038; ADCK1.
DR HPA; ENSG00000063761; Low tissue specificity.
DR neXtProt; NX_Q86TW2; -.
DR OpenTargets; ENSG00000063761; -.
DR PharmGKB; PA134861355; -.
DR VEuPathDB; HostDB:ENSG00000063761; -.
DR eggNOG; KOG1235; Eukaryota.
DR GeneTree; ENSGT00940000158221; -.
DR HOGENOM; CLU_006533_2_0_1; -.
DR InParanoid; Q86TW2; -.
DR OMA; PYVKGNS; -.
DR OrthoDB; 790106at2759; -.
DR PhylomeDB; Q86TW2; -.
DR TreeFam; TF314889; -.
DR PathwayCommons; Q86TW2; -.
DR SignaLink; Q86TW2; -.
DR BioGRID-ORCS; 57143; 10 hits in 1112 CRISPR screens.
DR ChiTaRS; ADCK1; human.
DR GenomeRNAi; 57143; -.
DR Pharos; Q86TW2; Tchem.
DR PRO; PR:Q86TW2; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q86TW2; protein.
DR Bgee; ENSG00000063761; Expressed in apex of heart and 177 other tissues.
DR ExpressionAtlas; Q86TW2; baseline and differential.
DR Genevisible; Q86TW2; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0032592; C:integral component of mitochondrial membrane; IBA:GO_Central.
DR GO; GO:0005743; C:mitochondrial inner membrane; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0004674; F:protein serine/threonine kinase activity; IEA:UniProtKB-KW.
DR GO; GO:0055088; P:lipid homeostasis; IBA:GO_Central.
DR GO; GO:0007005; P:mitochondrion organization; IBA:GO_Central.
DR GO; GO:0010637; P:negative regulation of mitochondrial fusion; IMP:UniProtKB.
DR GO; GO:0016310; P:phosphorylation; IEA:UniProtKB-KW.
DR GO; GO:1903852; P:positive regulation of cristae formation; IMP:UniProtKB.
DR CDD; cd13969; ADCK1-like; 1.
DR InterPro; IPR004147; ABC1_dom.
DR InterPro; IPR045307; ADCK1_dom.
DR InterPro; IPR011009; Kinase-like_dom_sf.
DR Pfam; PF03109; ABC1; 1.
DR SUPFAM; SSF56112; SSF56112; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Kinase; Nucleotide-binding;
KW Reference proteome; Secreted; Serine/threonine-protein kinase; Signal;
KW Transferase.
FT SIGNAL 1..17
FT /evidence="ECO:0000255"
FT CHAIN 18..530
FT /note="AarF domain-containing protein kinase 1"
FT /id="PRO_0000252249"
FT DOMAIN 155..467
FT /note="Protein kinase"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00159"
FT ACT_SITE 315
FT /note="Proton acceptor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00159"
FT BINDING 161..169
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00159"
FT BINDING 183
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00159"
FT VAR_SEQ 74..148
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046794"
FT VAR_SEQ 74..80
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020885"
FT MUTAGEN 164
FT /note="A->G: No effect on role in maintaining mitochondrial
FT structure and function."
FT /evidence="ECO:0000269|PubMed:31125351"
FT MUTAGEN 183
FT /note="K->I: No effect on role in maintaining mitochondrial
FT structure and function."
FT /evidence="ECO:0000269|PubMed:31125351"
FT MUTAGEN 315
FT /note="D->A: No effect on role in maintaining mitochondrial
FT structure and function."
FT /evidence="ECO:0000269|PubMed:31125351"
FT CONFLICT 7
FT /note="K -> N (in Ref. 1; BAG53397)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 530 AA; 60577 MW; CBB1DFA87D0F41CF CRC64;
MARKALKLAS WTSMALAASG IYFYSNKYLD PNDFGAVRVG RAVATTAVIS YDYLTSLKSV
PYGSEEYLQL RSKSWPVFLQ VHLRSARRLC ELCCANRGTF IKVGQHLGAL DYLLPEEYTS
TLKVLHSQAP QSSMQEIRQV IREDLGKEIH DLFQSFDDTP LGTASLAQVH KAVLHDGRTV
AVKVQHPKVR AQSSKDILLM EVLVLAVKQL FPEFEFMWLV DEAKKNLPLE LDFLNEGRNA
EKVSQMLRHF DFLKVPRIHW DLSTERVLLM EFVDGGQVND RDYMERNKID VNEISRHLGK
MYSEMIFVNG FVHCDPHPGN VLVRKHPGTG KAEIVLLDHG LYQMLTEEFR LNYCHLWQSL
IWTDMKRVKE YSQRLGAGDL YPLFACMLTA RSWDSVNRGI SQAPVTATED LEIRNNAANY
LPQISHLLNH VPRQMLLILK TNDLLRGIEA ALGTRASASS FLNMSRCCIR ALAEHKKKNT
CSFFRRTQIS FSEAFNLWQI NLHELILRVK GLKLADRVLA LICWLFPAPL
