DIK1B_HUMAN
ID DIK1B_HUMAN Reviewed; 431 AA.
AC Q5VUD6; Q5VUD7; Q8N5N0; Q8WYU5;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Divergent protein kinase domain 1B {ECO:0000305};
DE AltName: Full=Protein FAM69B;
GN Name=DIPK1B {ECO:0000312|HGNC:HGNC:28290}; Synonyms=C9orf136, FAM69B;
GN ORFNames=PP6977;
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 2), AND VARIANT GLY-158.
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLY-158.
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 1), AND VARIANT GLY-158.
RC TISSUE=Brain;
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 Q5VUD6; P21673: SAT1; NbExp=6; IntAct=EBI-721274, EBI-711613;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250};
CC Single-pass type II membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5VUD6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VUD6-2; Sequence=VSP_025405;
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}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAL55862.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF318355; AAL55862.1; ALT_FRAME; mRNA.
DR EMBL; AL590226; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355987; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW88253.1; -; Genomic_DNA.
DR EMBL; BC032097; AAH32097.1; -; mRNA.
DR CCDS; CCDS7004.1; -. [Q5VUD6-1]
DR RefSeq; NP_689634.2; NM_152421.3. [Q5VUD6-1]
DR RefSeq; XP_016869762.1; XM_017014273.1. [Q5VUD6-2]
DR AlphaFoldDB; Q5VUD6; -.
DR SMR; Q5VUD6; -.
DR BioGRID; 126510; 11.
DR IntAct; Q5VUD6; 6.
DR STRING; 9606.ENSP00000360757; -.
DR iPTMnet; Q5VUD6; -.
DR PhosphoSitePlus; Q5VUD6; -.
DR BioMuta; FAM69B; -.
DR DMDM; 296439350; -.
DR jPOST; Q5VUD6; -.
DR MassIVE; Q5VUD6; -.
DR PaxDb; Q5VUD6; -.
DR PeptideAtlas; Q5VUD6; -.
DR PRIDE; Q5VUD6; -.
DR ProteomicsDB; 65414; -. [Q5VUD6-1]
DR ProteomicsDB; 65415; -. [Q5VUD6-2]
DR Antibodypedia; 53284; 47 antibodies from 13 providers.
DR DNASU; 138311; -.
DR Ensembl; ENST00000371691.5; ENSP00000360756.1; ENSG00000165716.11. [Q5VUD6-2]
DR Ensembl; ENST00000371692.9; ENSP00000360757.4; ENSG00000165716.11. [Q5VUD6-1]
DR GeneID; 138311; -.
DR KEGG; hsa:138311; -.
DR MANE-Select; ENST00000371692.9; ENSP00000360757.4; NM_152421.4; NP_689634.2.
DR UCSC; uc004cik.4; human. [Q5VUD6-1]
DR CTD; 138311; -.
DR DisGeNET; 138311; -.
DR GeneCards; DIPK1B; -.
DR HGNC; HGNC:28290; DIPK1B.
DR HPA; ENSG00000165716; Low tissue specificity.
DR MIM; 614543; gene.
DR neXtProt; NX_Q5VUD6; -.
DR OpenTargets; ENSG00000165716; -.
DR PharmGKB; PA142671884; -.
DR VEuPathDB; HostDB:ENSG00000165716; -.
DR eggNOG; ENOG502QU5P; Eukaryota.
DR GeneTree; ENSGT00390000006452; -.
DR HOGENOM; CLU_039177_0_0_1; -.
DR InParanoid; Q5VUD6; -.
DR OMA; WALLHIN; -.
DR OrthoDB; 661899at2759; -.
DR PhylomeDB; Q5VUD6; -.
DR TreeFam; TF313319; -.
DR PathwayCommons; Q5VUD6; -.
DR SignaLink; Q5VUD6; -.
DR BioGRID-ORCS; 138311; 15 hits in 1079 CRISPR screens.
DR ChiTaRS; FAM69B; human.
DR GenomeRNAi; 138311; -.
DR Pharos; Q5VUD6; Tdark.
DR PRO; PR:Q5VUD6; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5VUD6; protein.
DR Bgee; ENSG00000165716; Expressed in lateral nuclear group of thalamus and 157 other tissues.
DR ExpressionAtlas; Q5VUD6; baseline and differential.
DR Genevisible; Q5VUD6; 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..431
FT /note="Divergent protein kinase domain 1B"
FT /id="PRO_0000287231"
FT TOPO_DOM 1..30
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 31..51
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 52..431
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT MOTIF 5..6
FT /note="May mediate ER retention"
FT /evidence="ECO:0000250"
FT DISULFID 57..94
FT /evidence="ECO:0000305"
FT DISULFID 62..117
FT /evidence="ECO:0000305"
FT VAR_SEQ 1..87
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15498874"
FT /id="VSP_025405"
FT VARIANT 158
FT /note="S -> G (in dbSNP:rs945384)"
FT /evidence="ECO:0000269|PubMed:15164053,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15498874"
FT /id="VAR_032295"
FT CONFLICT 380
FT /note="G -> C (in Ref. 1; AAL55862)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 431 AA; 48583 MW; 8CB446F094866388 CRC64;
MRRLRRLAHL VLFCPFSKRL QGRLPGLRVR CIFLAWLGVF AGSWLVYVHY SSYSERCRGH
VCQVVICDQY RKGIISGSVC QDLCELHMVE WRTCLSVAPG QQVYSGLWRD KDVTIKCGIE
ETLDSKARSD AAPRRELVLF DKPTRGTSIK EFREMTLSFL KANLGDLPSL PALVGQVLLM
ADFNKDNRVS LAEAKSVWAL LQRNEFLLLL SLQEKEHASR LLGYCGDLYL TEGVPHGAWH
AAALPPLLRP LLPPALQGAL QQWLGPAWPW RAKIAIGLLE FVEELFHGSY GTFYMCETTL
ANVGYTATYD FKMADLQQVA PEATVRRFLQ GRRCEHSTDC TYGRDCRAPC DRLMRQCKGD
LIQPNLAKVC ALLRGYLLPG APADLREELG TQLRTCTTLS GLASQVEAHH SLVLSHLKTL
LWKKISNTKY S
