DIK1A_HUMAN
ID DIK1A_HUMAN Reviewed; 428 AA.
AC Q5T7M9; Q6IRV2;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Divergent protein kinase domain 1A {ECO:0000305};
DE AltName: Full=Protein FAM69A;
GN Name=DIPK1A {ECO:0000312|HGNC:HGNC:32213}; Synonyms=FAM69A;
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 GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
CC -!- INTERACTION:
CC Q5T7M9-2; P42858: HTT; NbExp=3; IntAct=EBI-25960650, EBI-466029;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q9D6I7}; Single-pass type II membrane protein
CC {ECO:0000250|UniProtKB:Q9D6I7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5T7M9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T7M9-2; Sequence=VSP_024140, VSP_024141;
CC -!- PTM: Among the many cysteines in the lumenal domain, most are probably
CC involved in disulfide bonds. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the DIPK family. {ECO:0000305}.
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DR EMBL; AC093577; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL162740; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC070342; AAH70342.1; -; mRNA.
DR CCDS; CCDS44173.1; -. [Q5T7M9-1]
DR CCDS; CCDS72825.1; -. [Q5T7M9-2]
DR RefSeq; NP_001006606.2; NM_001006605.4. [Q5T7M9-1]
DR RefSeq; NP_001239202.1; NM_001252273.1. [Q5T7M9-2]
DR AlphaFoldDB; Q5T7M9; -.
DR BioGRID; 132793; 90.
DR IntAct; Q5T7M9; 25.
DR MINT; Q5T7M9; -.
DR STRING; 9606.ENSP00000359333; -.
DR iPTMnet; Q5T7M9; -.
DR PhosphoSitePlus; Q5T7M9; -.
DR SwissPalm; Q5T7M9; -.
DR BioMuta; FAM69A; -.
DR DMDM; 74745404; -.
DR EPD; Q5T7M9; -.
DR jPOST; Q5T7M9; -.
DR MassIVE; Q5T7M9; -.
DR MaxQB; Q5T7M9; -.
DR PaxDb; Q5T7M9; -.
DR PeptideAtlas; Q5T7M9; -.
DR PRIDE; Q5T7M9; -.
DR ProteomicsDB; 64665; -. [Q5T7M9-1]
DR ProteomicsDB; 64666; -. [Q5T7M9-2]
DR Antibodypedia; 2517; 47 antibodies from 11 providers.
DR DNASU; 388650; -.
DR Ensembl; ENST00000370310.5; ENSP00000359333.4; ENSG00000154511.12. [Q5T7M9-1]
DR Ensembl; ENST00000615519.4; ENSP00000483279.1; ENSG00000154511.12. [Q5T7M9-2]
DR GeneID; 388650; -.
DR KEGG; hsa:388650; -.
DR MANE-Select; ENST00000370310.5; ENSP00000359333.4; NM_001006605.5; NP_001006606.2.
DR UCSC; uc001dpc.4; human. [Q5T7M9-1]
DR CTD; 388650; -.
DR DisGeNET; 388650; -.
DR GeneCards; DIPK1A; -.
DR HGNC; HGNC:32213; DIPK1A.
DR HPA; ENSG00000154511; Low tissue specificity.
DR MalaCards; DIPK1A; -.
DR MIM; 614542; gene.
DR neXtProt; NX_Q5T7M9; -.
DR OpenTargets; ENSG00000154511; -.
DR PharmGKB; PA142671883; -.
DR VEuPathDB; HostDB:ENSG00000154511; -.
DR eggNOG; ENOG502QU5P; Eukaryota.
DR GeneTree; ENSGT00390000006452; -.
DR HOGENOM; CLU_1634828_0_0_1; -.
DR InParanoid; Q5T7M9; -.
DR OMA; DQSKMKC; -.
DR OrthoDB; 661899at2759; -.
DR PhylomeDB; Q5T7M9; -.
DR TreeFam; TF313319; -.
DR PathwayCommons; Q5T7M9; -.
DR SignaLink; Q5T7M9; -.
DR BioGRID-ORCS; 388650; 38 hits in 1082 CRISPR screens.
DR ChiTaRS; FAM69A; human.
DR GenomeRNAi; 388650; -.
DR Pharos; Q5T7M9; Tdark.
DR PRO; PR:Q5T7M9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T7M9; protein.
DR Bgee; ENSG00000154511; Expressed in endothelial cell and 186 other tissues.
DR ExpressionAtlas; Q5T7M9; baseline and differential.
DR Genevisible; Q5T7M9; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR022049; FAM69_kinase_dom.
DR InterPro; IPR029244; FAM69_N.
DR Pfam; PF12260; PIP49_C; 1.
DR Pfam; PF14875; PIP49_N; 1.
DR SMART; SM01299; PIP49_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Endoplasmic reticulum; Membrane;
KW Reference proteome; Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..428
FT /note="Divergent protein kinase domain 1A"
FT /id="PRO_0000282423"
FT TOPO_DOM 1..27
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 28..48
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 49..428
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT VAR_SEQ 158..162
FT /note="KAKLG -> KDQHR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024140"
FT VAR_SEQ 163..428
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024141"
SQ SEQUENCE 428 AA; 49024 MW; 1A348DD44643AA4C CRC64;
MARSLCPGAW LRKPYYLQAR FSYVRMKYLF FSWLVVFVGS WIIYVQYSTY TELCRGKDCK
KIICDKYKTG VIDGPACNSL CVTETLYFGK CLSTKPNNQM YLGIWDNLPG VVKCQMEQAL
HLDFGTELEP RKEIVLFDKP TRGTTVQKFK EMVYSLFKAK LGDQGNLSEL VNLILTVADG
DKDGQVSLGE AKSAWALLQL NEFLLMVILQ DKEHTPKLMG FCGDLYVMES VEYTSLYGIS
LPWVIELFIP SGFRRSMDQL FTPSWPRKAK IAIGLLEFVE DVFHGPYGNF LMCDTSAKNL
GYNDKYDLKM VDMRKIVPET NLKELIKDRH CESDLDCVYG TDCRTSCDQS TMKCTSEVIQ
PNLAKACQLL KDYLLRGAPS EIREELEKQL YSCIALKVTA NQMEMEHSLI LNNLKTLLWK
KISYTNDS
