K1614_HUMAN
ID K1614_HUMAN Reviewed; 1190 AA.
AC Q5VZ46; Q5VZ45; Q9HCF8;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Uncharacterized protein KIAA1614;
GN Name=KIAA1614;
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 1), AND VARIANTS PRO-64;
RP PHE-801 AND ASP-1078.
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS PHE-801
RP AND ASP-1078.
RC TISSUE=Cerebellum;
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 [3]
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5VZ46-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VZ46-2; Sequence=VSP_030081;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB13440.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB046834; BAB13440.1; ALT_INIT; mRNA.
DR EMBL; AK090668; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL162431; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS41442.1; -. [Q5VZ46-1]
DR RefSeq; NP_066001.1; NM_020950.1. [Q5VZ46-1]
DR AlphaFoldDB; Q5VZ46; -.
DR BioGRID; 121734; 3.
DR IntAct; Q5VZ46; 3.
DR STRING; 9606.ENSP00000356560; -.
DR iPTMnet; Q5VZ46; -.
DR PhosphoSitePlus; Q5VZ46; -.
DR BioMuta; KIAA1614; -.
DR DMDM; 296439321; -.
DR EPD; Q5VZ46; -.
DR jPOST; Q5VZ46; -.
DR MassIVE; Q5VZ46; -.
DR PaxDb; Q5VZ46; -.
DR PeptideAtlas; Q5VZ46; -.
DR PRIDE; Q5VZ46; -.
DR ProteomicsDB; 65670; -. [Q5VZ46-1]
DR ProteomicsDB; 65671; -. [Q5VZ46-2]
DR Antibodypedia; 34429; 29 antibodies from 11 providers.
DR DNASU; 57710; -.
DR Ensembl; ENST00000367587.1; ENSP00000356559.1; ENSG00000135835.12. [Q5VZ46-2]
DR Ensembl; ENST00000367588.9; ENSP00000356560.4; ENSG00000135835.12. [Q5VZ46-1]
DR GeneID; 57710; -.
DR KEGG; hsa:57710; -.
DR MANE-Select; ENST00000367588.9; ENSP00000356560.4; NM_020950.2; NP_066001.1.
DR UCSC; uc001gok.3; human. [Q5VZ46-1]
DR CTD; 57710; -.
DR DisGeNET; 57710; -.
DR GeneCards; KIAA1614; -.
DR HGNC; HGNC:29327; KIAA1614.
DR HPA; ENSG00000135835; Tissue enhanced (retina).
DR neXtProt; NX_Q5VZ46; -.
DR PharmGKB; PA142671595; -.
DR VEuPathDB; HostDB:ENSG00000135835; -.
DR eggNOG; KOG3606; Eukaryota.
DR GeneTree; ENSGT00390000013003; -.
DR HOGENOM; CLU_010586_0_0_1; -.
DR InParanoid; Q5VZ46; -.
DR OMA; PIHGVTP; -.
DR OrthoDB; 561663at2759; -.
DR PhylomeDB; Q5VZ46; -.
DR TreeFam; TF332517; -.
DR PathwayCommons; Q5VZ46; -.
DR SignaLink; Q5VZ46; -.
DR BioGRID-ORCS; 57710; 30 hits in 1074 CRISPR screens.
DR ChiTaRS; KIAA1614; human.
DR GenomeRNAi; 57710; -.
DR Pharos; Q5VZ46; Tdark.
DR PRO; PR:Q5VZ46; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VZ46; protein.
DR Bgee; ENSG00000135835; Expressed in buccal mucosa cell and 99 other tissues.
DR ExpressionAtlas; Q5VZ46; baseline and differential.
DR Genevisible; Q5VZ46; HS.
DR GO; GO:0016324; C:apical plasma membrane; IBA:GO_Central.
DR GO; GO:0005938; C:cell cortex; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005080; F:protein kinase C binding; IBA:GO_Central.
DR GO; GO:0007098; P:centrosome cycle; IBA:GO_Central.
DR GO; GO:0007163; P:establishment or maintenance of cell polarity; IBA:GO_Central.
DR GO; GO:0060341; P:regulation of cellular localization; IBA:GO_Central.
DR InterPro; IPR032756; DUF4685.
DR Pfam; PF15737; DUF4685; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..1190
FT /note="Uncharacterized protein KIAA1614"
FT /id="PRO_0000313645"
FT REGION 1..77
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 98..223
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 313..366
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 378..457
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 613..663
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 685..823
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 831..850
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 877..930
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 942..999
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1015..1063
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1087..1106
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 18..32
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 100..114
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 343..359
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 417..437
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 613..639
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 685..713
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 743..796
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 902..916
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1017..1063
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..379
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030081"
FT VARIANT 64
FT /note="L -> P (in dbSNP:rs10732273)"
FT /evidence="ECO:0000269|PubMed:10997877"
FT /id="VAR_063118"
FT VARIANT 214
FT /note="H -> Y (in dbSNP:rs3747959)"
FT /id="VAR_037682"
FT VARIANT 740
FT /note="R -> W (in dbSNP:rs17302207)"
FT /id="VAR_037683"
FT VARIANT 801
FT /note="L -> F (in dbSNP:rs3795504)"
FT /evidence="ECO:0000269|PubMed:10997877,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_037684"
FT VARIANT 1078
FT /note="N -> D (in dbSNP:rs2331995)"
FT /evidence="ECO:0000269|PubMed:10997877,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_037685"
FT CONFLICT 574
FT /note="G -> D (in Ref. 2; AK090668)"
FT /evidence="ECO:0000305"
FT CONFLICT 1157
FT /note="S -> L (in Ref. 2; AK090668)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1190 AA; 126604 MW; 7C76CC6A2C181E77 CRC64;
MEGTEAAAAK PAGGSPQGPK TGSGTASPVE GTSAVEWSGP EPQLDNGHPP RPWPCPQENR
TSSLMAPQPP RVWGVQLQGP SVLESKVRAL KEKMTVAKQG VSPCSASQEW SSPKKPQCRR
GKAGRAGTPS EGSFLPGAVV APRTQNLPDG QLDGSINEEQ PARDGGPRLP RPPAPGREYC
NRGSPWPPEA EWTLPDHDRG PLLGPSSLQQ SPIHGVTPGR PGGPGHCNKI IHIPSPRTGR
SYPFPDGVVT EADLDSTSLT SEEVFVPRTA LLGERWRAGD LEALGAGSSV LSLSDRVERN
RLLLQEMLNV SGQSPRKVGT PAWTPSWDTA APERPVGDVD WASGTSLQDS GQNRTVGPNP
EPVLSPRHEE ATHLLQRARM KARTRPLRAS HDIVPTITQG SRDGHRSPAR DPRTTPACRD
SLQNGHTSDS SSGESSGGHR PRRGPSPSHV RFEDESAREA EFRHLERLQQ RQRQVLSTVL
QAADQGPLRS KPDLADYING APRLRDAGQG TFHRLVGSLD RRGHPAPPAP GSERRCQACG
SCIDDPRPAQ GKAPPVPRTL QELQAACGME RVLGGLSSPL RLLPAEPRLH MEWIRETHIG
DTVCPAEVDS ALDSTDNSDN CRTDSEEAGT SQAGWACGRT QGSSPRLRLR GSRPRGHRWS
KKAEAELPWG LQAQQHLPRA DDVEVENEVK EGRGHTPEGT LFLREDAKPP DLELKRVSLG
PQWQPGPGLG SHQPHPLDSR TPCRTAYATT APMTPESSGP GGQAQVTESH ESLEIVSPSS
LQQSHAEPSA PHQAWQPTAS LCPEGWAPTP PPSRKTTSPV SHRKAALAGL LRLGDQTEPV
GIPRPPSRSA VLRTCELPPS QTQPSRPQVR HPLLALSTNN CNNSAPRGLQ EPYGGAVHEG
RVERGPCSRE PEPPLENSRD GGPQGFLGSA DVATINSTGI TLSLSSEESE SSKESEGSLQ
RTGSGSGGHV LSRASAGAGT GPGSPSAAPL DQNKKRSSSI ASTLGLKKLF SALGQSSRPK
LGKSRSYSVE QLQPAPPGLT SQSRAPSLQS LHPVSPSHQR RKAASFQNLH SLLSSKGNRS
SLYLVAGPGD HSAAGRPAKT SPRRALSVED VGAPSLARTV GRLVEVFPDG TSQLQLQRSP
GGTFGFCVAS GNGRPDSGMP SPLPQPHGWG GLSKQGRAFW LWSEAFLVFG
