JKIP3_HUMAN
ID JKIP3_HUMAN Reviewed; 844 AA.
AC Q5VZ66; A6PW00; Q69YM6; Q6ZT29;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 2.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Janus kinase and microtubule-interacting protein 3;
DE AltName: Full=Neuroendocrine long coiled-coil protein 2;
GN Name=JAKMIP3; Synonyms=C10orf14, C10orf39, JAMIP3, NECC2;
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=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 495-844.
RC TISSUE=Brain;
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 MRNA] OF 535-828.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=17572408; DOI=10.1016/j.febslet.2007.06.002;
RA Cruz-Garcia D., Vazquez-Martinez R., Peinado J.R., Anouar Y., Tonon M.C.,
RA Vaudry H., Castano J.P., Malagon M.M.;
RT "Identification and characterization of two novel (neuro)endocrine long
RT coiled-coil proteins.";
RL FEBS Lett. 581:3149-3156(2007).
RN [5]
RP VARIANT [LARGE SCALE ANALYSIS] GLY-795.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in the CNS and endocrine
CC tissues. Also detected in other tissues including heart, testis and
CC prostate. {ECO:0000269|PubMed:17572408}.
CC -!- SIMILARITY: Belongs to the JAKMIP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC86766.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL832756; CAH10388.1; -; mRNA.
DR EMBL; AL512622; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL162274; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK126964; BAC86766.1; ALT_INIT; mRNA.
DR CCDS; CCDS44494.1; -.
DR RefSeq; NP_001098991.1; NM_001105521.3.
DR RefSeq; NP_001310019.1; NM_001323090.1.
DR RefSeq; XP_016871585.1; XM_017016096.1.
DR AlphaFoldDB; Q5VZ66; -.
DR SMR; Q5VZ66; -.
DR BioGRID; 129428; 1.
DR IntAct; Q5VZ66; 2.
DR STRING; 9606.ENSP00000298622; -.
DR iPTMnet; Q5VZ66; -.
DR PhosphoSitePlus; Q5VZ66; -.
DR BioMuta; JAKMIP3; -.
DR DMDM; 172045962; -.
DR EPD; Q5VZ66; -.
DR MassIVE; Q5VZ66; -.
DR MaxQB; Q5VZ66; -.
DR PaxDb; Q5VZ66; -.
DR PeptideAtlas; Q5VZ66; -.
DR PRIDE; Q5VZ66; -.
DR Antibodypedia; 19297; 25 antibodies from 11 providers.
DR DNASU; 282973; -.
DR Ensembl; ENST00000298622.9; ENSP00000298622.4; ENSG00000188385.13.
DR Ensembl; ENST00000664697.1; ENSP00000499375.1; ENSG00000188385.13.
DR Ensembl; ENST00000668452.1; ENSP00000499753.1; ENSG00000188385.13.
DR GeneID; 282973; -.
DR KEGG; hsa:282973; -.
DR UCSC; uc001lkx.5; human.
DR CTD; 282973; -.
DR DisGeNET; 282973; -.
DR GeneCards; JAKMIP3; -.
DR HGNC; HGNC:23523; JAKMIP3.
DR HPA; ENSG00000188385; Tissue enriched (brain).
DR MIM; 611198; gene.
DR neXtProt; NX_Q5VZ66; -.
DR OpenTargets; ENSG00000188385; -.
DR VEuPathDB; HostDB:ENSG00000188385; -.
DR eggNOG; ENOG502QRTR; Eukaryota.
DR GeneTree; ENSGT00940000153713; -.
DR HOGENOM; CLU_020294_1_0_1; -.
DR InParanoid; Q5VZ66; -.
DR OrthoDB; 727914at2759; -.
DR PhylomeDB; Q5VZ66; -.
DR TreeFam; TF331900; -.
DR PathwayCommons; Q5VZ66; -.
DR SignaLink; Q5VZ66; -.
DR BioGRID-ORCS; 282973; 14 hits in 1064 CRISPR screens.
DR ChiTaRS; JAKMIP3; human.
DR GenomeRNAi; 282973; -.
DR Pharos; Q5VZ66; Tdark.
DR PRO; PR:Q5VZ66; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5VZ66; protein.
DR Bgee; ENSG00000188385; Expressed in C1 segment of cervical spinal cord and 114 other tissues.
DR ExpressionAtlas; Q5VZ66; baseline and differential.
DR Genevisible; Q5VZ66; HS.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0019900; F:kinase binding; IEA:InterPro.
DR GO; GO:0008017; F:microtubule binding; IEA:InterPro.
DR InterPro; IPR024836; JAKMIP.
DR InterPro; IPR031994; JAKMIP_C.
DR PANTHER; PTHR18935; PTHR18935; 1.
DR Pfam; PF16034; JAKMIP_CC3; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Golgi apparatus; Phosphoprotein; Reference proteome.
FT CHAIN 1..844
FT /note="Janus kinase and microtubule-interacting protein 3"
FT /id="PRO_0000323011"
FT REGION 250..290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 466..489
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 8..258
FT /evidence="ECO:0000255"
FT COILED 289..421
FT /evidence="ECO:0000255"
FT COILED 493..621
FT /evidence="ECO:0000255"
FT COILED 683..834
FT /evidence="ECO:0000255"
FT COMPBIAS 250..265
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 466..480
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 384
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5DTN8"
FT VARIANT 493
FT /note="M -> V (in dbSNP:rs11592585)"
FT /id="VAR_054016"
FT VARIANT 795
FT /note="R -> G (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_039473"
SQ SEQUENCE 844 AA; 98529 MW; CBB47F31B3E5BD27 CRC64;
MSKRGMSSRA KGDKAEALAA LQAANEDLRA KLTDIQIELQ QEKSKVSKVE REKNQELRQV
REHEQHKTAV LLTELKTKLH EEKMKELQAV RETLLRQHEA ELLRVIKIKD NENQRLQALL
SALRDGGPEK VKTVLLSEAK EEAKKGFEVE KVKMQQEISE LKGAKRQVEE ALTLVIQADK
IKAAEIRSVY HLHQEEITRI KKECEREIRR LMEEIKFKDR AVFVLERELG VQAGHAQRLQ
LQKEALDEQL SQVREADRHP GSPRRELPHA AGAGDASDHS GSPEQQLDEK DARRFQLKIA
ELSAIIRKLE DRNALLSEER NELLKRVREA ESQYKPLLDK NKRLSRKNED LSHALRRMEN
KLKFVTQENI EMRQRAGIIR RPSSLNDLDQ SQDEREVDFL KLQIVEQQNL IDELSKTLET
AGYVKSVLER DKLLRFRKQR KKMAKLPKPV VVETFFGYDE EASLESDGSS VSYQTDRTDQ
TPCTPDDDLE EGMAKEETEL RFRQLTMEYQ ALQRAYALLQ EQVGGTLDAE REVKTREQLQ
AEVQRAQARI EDLEKALAEQ GQDMKWIEEK QALYRRNQEL VEKIKQMETE EARLRHEVQD
ARDQNELLEF RILELEERER KSPAISFHHT PFVDGKSPLQ VYCEAEGVTD IVVAELMKKL
DILGDNANLT NEEQVVVIQA RTVLTLAEKW LQQIEETEAA LQRKMVDLES EKELFSKQKG
YLDEELDYRK QALDQANKHI LELEAMLYDA LQQEAGAKVA ELLSEEEREK LKVAVEQWKR
QVMSELRERD AQILRERMEL LQLAQQRIKE LEERIEAQKR QIKELEEKFL FLFLFFSLAF
ILWS
