DIK2A_HUMAN
ID DIK2A_HUMAN Reviewed; 430 AA.
AC Q8NDZ4; B2RCF2; B7Z1W3;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Divergent protein kinase domain 2A {ECO:0000305};
DE AltName: Full=Deleted in autism protein 1 {ECO:0000303|PubMed:18621663};
DE AltName: Full=Golgi Protein of 49 kDa {ECO:0000303|PubMed:18651652};
DE Short=GoPro49 {ECO:0000303|PubMed:18651652};
DE AltName: Full=Hypoxia and AKT-induced stem cell factor;
DE Short=HASF;
DE Flags: Precursor;
GN Name=DIPK2A {ECO:0000312|HGNC:HGNC:28490};
GN Synonyms=C3orf58, DIA1 {ECO:0000303|PubMed:18621663};
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] (ISOFORMS 1 AND 2).
RC TISSUE=Cerebellum, and Trachea;
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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 [4]
RP IDENTIFICATION, AND SUBCELLULAR LOCATION.
RX PubMed=18651652; DOI=10.1002/dvdy.21646;
RA Takatalo M., Jaervinen E., Laitinen S., Thesleff I., Roennholm R.;
RT "Expression of the novel Golgi protein GoPro49 is developmentally regulated
RT during mesenchymal differentiation.";
RL Dev. Dyn. 237:2243-2255(2008).
RN [5]
RP POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO AUTISM.
RX PubMed=18621663; DOI=10.1126/science.1157657;
RA Morrow E.M., Yoo S.-Y., Flavell S.W., Kim T.-K., Lin Y., Hill R.S.,
RA Mukaddes N.M., Balkhy S., Gascon G., Hashmi A., Al-Saad S., Ware J.,
RA Joseph R.M., Greenblatt R., Gleason D., Ertelt J.A., Apse K.A., Bodell A.,
RA Partlow J.N., Barry B., Yao H., Markianos K., Ferland R.J., Greenberg M.E.,
RA Walsh C.A.;
RT "Identifying autism loci and genes by tracing recent shared ancestry.";
RL Science 321:218-223(2008).
RN [6]
RP FUNCTION IN PROLIFERATION, AND SUBCELLULAR LOCATION.
RX PubMed=23784961; DOI=10.1161/circresaha.113.301075;
RA Beigi F., Schmeckpeper J., Pow-Anpongkul P., Payne J.A., Zhang L.,
RA Zhang Z., Huang J., Mirotsou M., Dzau V.J.;
RT "C3orf58, a novel paracrine protein, stimulates cardiomyocyte cell-cycle
RT progression through the PI3K-AKT-CDK7 pathway.";
RL Circ. Res. 113:372-380(2013).
CC -!- FUNCTION: May play a role in cardiomyocyte proliferation through
CC paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling
CC cascade. {ECO:0000269|PubMed:23784961}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPI-coated vesicle. Golgi
CC apparatus. Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NDZ4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDZ4-2; Sequence=VSP_042939, VSP_042940;
CC -!- DISEASE: Note=Genetic variations in C3orf58 may be associated with
CC susceptibility to autism (PubMed:18621663).
CC {ECO:0000269|PubMed:18621663}.
CC -!- SIMILARITY: Belongs to the DIPK family. {ECO:0000305}.
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DR EMBL; AK294020; BAH11649.1; -; mRNA.
DR EMBL; AK315082; BAG37549.1; -; mRNA.
DR EMBL; AC117379; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC117387; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037293; AAH37293.1; -; mRNA.
DR CCDS; CCDS3130.1; -. [Q8NDZ4-1]
DR CCDS; CCDS46929.1; -. [Q8NDZ4-2]
DR RefSeq; NP_001127942.1; NM_001134470.1. [Q8NDZ4-2]
DR RefSeq; NP_775823.1; NM_173552.3. [Q8NDZ4-1]
DR AlphaFoldDB; Q8NDZ4; -.
DR BioGRID; 128496; 62.
DR IntAct; Q8NDZ4; 38.
DR MINT; Q8NDZ4; -.
DR STRING; 9606.ENSP00000320081; -.
DR iPTMnet; Q8NDZ4; -.
DR PhosphoSitePlus; Q8NDZ4; -.
DR SwissPalm; Q8NDZ4; -.
DR BioMuta; C3orf58; -.
DR DMDM; 74730188; -.
DR EPD; Q8NDZ4; -.
DR jPOST; Q8NDZ4; -.
DR MassIVE; Q8NDZ4; -.
DR MaxQB; Q8NDZ4; -.
DR PaxDb; Q8NDZ4; -.
DR PeptideAtlas; Q8NDZ4; -.
DR PRIDE; Q8NDZ4; -.
DR ProteomicsDB; 73100; -. [Q8NDZ4-1]
DR ProteomicsDB; 73101; -. [Q8NDZ4-2]
DR Antibodypedia; 52825; 100 antibodies from 16 providers.
DR DNASU; 205428; -.
DR Ensembl; ENST00000315691.8; ENSP00000320081.4; ENSG00000181744.9. [Q8NDZ4-1]
DR Ensembl; ENST00000495414.5; ENSP00000417382.1; ENSG00000181744.9. [Q8NDZ4-2]
DR GeneID; 205428; -.
DR KEGG; hsa:205428; -.
DR MANE-Select; ENST00000315691.8; ENSP00000320081.4; NM_173552.5; NP_775823.1.
DR UCSC; uc003evo.4; human. [Q8NDZ4-1]
DR CTD; 205428; -.
DR DisGeNET; 205428; -.
DR GeneCards; DIPK2A; -.
DR HGNC; HGNC:28490; DIPK2A.
DR HPA; ENSG00000181744; Low tissue specificity.
DR MIM; 612200; gene.
DR neXtProt; NX_Q8NDZ4; -.
DR OpenTargets; ENSG00000181744; -.
DR PharmGKB; PA143485334; -.
DR VEuPathDB; HostDB:ENSG00000181744; -.
DR eggNOG; ENOG502QUEB; Eukaryota.
DR GeneTree; ENSGT00520000055625; -.
DR HOGENOM; CLU_052524_0_0_1; -.
DR InParanoid; Q8NDZ4; -.
DR OMA; TKICRRA; -.
DR PhylomeDB; Q8NDZ4; -.
DR TreeFam; TF313319; -.
DR PathwayCommons; Q8NDZ4; -.
DR SignaLink; Q8NDZ4; -.
DR BioGRID-ORCS; 205428; 9 hits in 1067 CRISPR screens.
DR ChiTaRS; C3orf58; human.
DR GenomeRNAi; 205428; -.
DR Pharos; Q8NDZ4; Tbio.
DR PRO; PR:Q8NDZ4; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8NDZ4; protein.
DR Bgee; ENSG00000181744; Expressed in cerebellar vermis and 191 other tissues.
DR ExpressionAtlas; Q8NDZ4; baseline and differential.
DR Genevisible; Q8NDZ4; HS.
DR GO; GO:0030126; C:COPI vesicle coat; IDA:MGI.
DR GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
DR GO; GO:0000139; C:Golgi membrane; IDA:MGI.
DR GO; GO:0060038; P:cardiac muscle cell proliferation; IDA:UniProtKB.
DR GO; GO:0034392; P:negative regulation of smooth muscle cell apoptotic process; IDA:GO_Central.
DR GO; GO:1900020; P:positive regulation of protein kinase C activity; IGI:GO_Central.
DR GO; GO:0014066; P:regulation of phosphatidylinositol 3-kinase signaling; IDA:UniProtKB.
DR InterPro; IPR020519; DIPK2A/B.
DR InterPro; IPR022049; FAM69_kinase_dom.
DR PANTHER; PTHR32073; PTHR32073; 1.
DR Pfam; PF12260; PIP49_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Autism; Autism spectrum disorder;
KW Cytoplasmic vesicle; Golgi apparatus; Reference proteome; Secreted; Signal.
FT SIGNAL 1..35
FT /evidence="ECO:0000255"
FT CHAIN 36..430
FT /note="Divergent protein kinase domain 2A"
FT /id="PRO_0000226037"
FT VAR_SEQ 1..10
FT /note="MWRLVPPKLG -> MKSENGTVVG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042939"
FT VAR_SEQ 11..219
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042940"
SQ SEQUENCE 430 AA; 49482 MW; EB72CACF14E71457 CRC64;
MWRLVPPKLG RLSRSLKLAA LGSLLVLMVL HSPSLLASWQ RNELTDRRFL QLNKCPACFG
TSWCRRFLNG QVVFEAWGRL RLLDFLNVKN VYFAQYGEPR EGGRRRVVLK RLGSQRELAQ
LDQSICKRAT GRPRCDLLQA MPRTEFARLN GDVRLLTPEA VEGWSDLVHC PSQRLLDRLV
RRYAETKDSG SFLLRNLKDS ERMQLLLTLA FNPEPLVLQS FPSDEGWPFA KYLGACGRMV
AVNYVGEELW SYFNAPWEKR VDLAWQLMEI AEQLTNNDFE FALYLLDVSF DNFAVGPRDG
KVIIVDAENV LVADKRLIRQ NKPENWDVWY ESKFDDCDKE ACLSFSKEIL CARATVDHNY
YAVCQNLLSR HATWRGTSGG LLHDPPSEIA KDGRLEALLD ECANPKKRYG RFQAAKELRE
YLAQLSNNVR
