JKIP2_HUMAN
ID JKIP2_HUMAN Reviewed; 810 AA.
AC Q96AA8; A4ZZA7; A8K5G5; B4DSG0; G5E9Y0; O60302; Q548S1;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Janus kinase and microtubule-interacting protein 2;
DE AltName: Full=CTCL tumor antigen HD-CL-04;
DE AltName: Full=Neuroendocrine long coiled-coil protein 1;
GN Name=JAKMIP2; Synonyms=JAMIP2, KIAA0555, NECC1;
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 4).
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 [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Cervix carcinoma;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=T-cell lymphoma;
RX PubMed=14996095; DOI=10.1111/j.1365-2133.2004.05651.x;
RA Hartmann T.B., Thiel D., Dummer R., Schadendorf D., Eichmueller S.;
RT "SEREX identification of new tumour-associated antigens in cutaneous T-cell
RT lymphoma.";
RL Br. J. Dermatol. 150:252-258(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Muscle;
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 [8]
RP TISSUE SPECIFICITY.
RX PubMed=15277531; DOI=10.1074/jbc.m401915200;
RA Steindler C., Li Z., Algarte M., Alcover A., Libri V., Ragimbeau J.,
RA Pellegrini S.;
RT "Jamip1 (marlin-1) defines a family of proteins interacting with Janus
RT kinases and microtubules.";
RL J. Biol. Chem. 279:43168-43177(2004).
RN [9]
RP VARIANT [LARGE SCALE ANALYSIS] CYS-315.
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 -!- INTERACTION:
CC Q96AA8; A6NC98: CCDC88B; NbExp=3; IntAct=EBI-752007, EBI-347573;
CC Q96AA8; Q7Z460-4: CLASP1; NbExp=3; IntAct=EBI-752007, EBI-10257534;
CC Q96AA8; Q8N3C7: CLIP4; NbExp=7; IntAct=EBI-752007, EBI-5655540;
CC Q96AA8; Q5JST6: EFHC2; NbExp=3; IntAct=EBI-752007, EBI-2349927;
CC Q96AA8; Q14241: ELOA; NbExp=3; IntAct=EBI-752007, EBI-742350;
CC Q96AA8; O14964: HGS; NbExp=3; IntAct=EBI-752007, EBI-740220;
CC Q96AA8; Q9Y3B7: MRPL11; NbExp=3; IntAct=EBI-752007, EBI-5453723;
CC Q96AA8; Q15742: NAB2; NbExp=3; IntAct=EBI-752007, EBI-8641936;
CC Q96AA8; Q13526: PIN1; NbExp=4; IntAct=EBI-752007, EBI-714158;
CC Q96AA8; Q8WWY3: PRPF31; NbExp=8; IntAct=EBI-752007, EBI-1567797;
CC Q96AA8; Q969G3: SMARCE1; NbExp=3; IntAct=EBI-752007, EBI-455078;
CC Q96AA8; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-752007, EBI-2799833;
CC Q96AA8; O14978: ZNF263; NbExp=3; IntAct=EBI-752007, EBI-744493;
CC Q96AA8; A8K932; NbExp=3; IntAct=EBI-752007, EBI-10174671;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:17572408}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96AA8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96AA8-2; Sequence=VSP_002430, VSP_028230;
CC Name=3;
CC IsoId=Q96AA8-3; Sequence=VSP_028230;
CC Name=4;
CC IsoId=Q96AA8-4; Sequence=VSP_055264, VSP_028230;
CC -!- TISSUE SPECIFICITY: Highly expressed in brain, moderately expressed in
CC thymus, spleen and lung, and weakly expressed in kidney, liver and
CC peripheral blood lymphocytes. Also expressed in adrenal and pituitary
CC glands, as well as testis. {ECO:0000269|PubMed:15277531,
CC ECO:0000269|PubMed:17572408}.
CC -!- SIMILARITY: Belongs to the JAKMIP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA25481.2; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK291280; BAF83969.1; -; mRNA.
DR EMBL; AK299724; BAG61622.1; -; mRNA.
DR EMBL; EF512550; ABP62932.1; -; mRNA.
DR EMBL; AF273057; AAM44460.1; -; mRNA.
DR EMBL; AB011127; BAA25481.2; ALT_FRAME; mRNA.
DR EMBL; AC011370; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011415; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC126775; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471062; EAW61820.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW61821.1; -; Genomic_DNA.
DR EMBL; BC017354; AAH17354.1; -; mRNA.
DR CCDS; CCDS4285.1; -. [Q96AA8-1]
DR CCDS; CCDS59495.1; -. [Q96AA8-2]
DR CCDS; CCDS64284.1; -. [Q96AA8-4]
DR CCDS; CCDS75352.1; -. [Q96AA8-3]
DR PIR; T00331; T00331.
DR RefSeq; NP_001257863.1; NM_001270934.1. [Q96AA8-2]
DR RefSeq; NP_001257870.1; NM_001270941.1. [Q96AA8-3]
DR RefSeq; NP_001269211.1; NM_001282282.1. [Q96AA8-4]
DR RefSeq; NP_055605.2; NM_014790.4. [Q96AA8-1]
DR RefSeq; XP_016865586.1; XM_017010097.1.
DR AlphaFoldDB; Q96AA8; -.
DR SMR; Q96AA8; -.
DR BioGRID; 115170; 24.
DR IntAct; Q96AA8; 20.
DR MINT; Q96AA8; -.
DR STRING; 9606.ENSP00000479248; -.
DR iPTMnet; Q96AA8; -.
DR PhosphoSitePlus; Q96AA8; -.
DR BioMuta; JAKMIP2; -.
DR DMDM; 20140696; -.
DR EPD; Q96AA8; -.
DR MassIVE; Q96AA8; -.
DR MaxQB; Q96AA8; -.
DR PaxDb; Q96AA8; -.
DR PeptideAtlas; Q96AA8; -.
DR PRIDE; Q96AA8; -.
DR ProteomicsDB; 34078; -.
DR ProteomicsDB; 5023; -.
DR ProteomicsDB; 75942; -. [Q96AA8-1]
DR ProteomicsDB; 75943; -. [Q96AA8-2]
DR ProteomicsDB; 75944; -. [Q96AA8-3]
DR Antibodypedia; 45665; 214 antibodies from 30 providers.
DR DNASU; 9832; -.
DR Ensembl; ENST00000265272.9; ENSP00000265272.5; ENSG00000176049.16. [Q96AA8-1]
DR Ensembl; ENST00000333010.6; ENSP00000328989.6; ENSG00000176049.16. [Q96AA8-4]
DR Ensembl; ENST00000507386.5; ENSP00000421398.1; ENSG00000176049.16. [Q96AA8-2]
DR Ensembl; ENST00000616793.5; ENSP00000479248.1; ENSG00000176049.16. [Q96AA8-3]
DR GeneID; 9832; -.
DR KEGG; hsa:9832; -.
DR MANE-Select; ENST00000616793.5; ENSP00000479248.1; NM_001270941.2; NP_001257870.1. [Q96AA8-3]
DR UCSC; uc003loq.3; human. [Q96AA8-1]
DR CTD; 9832; -.
DR DisGeNET; 9832; -.
DR GeneCards; JAKMIP2; -.
DR HGNC; HGNC:29067; JAKMIP2.
DR HPA; ENSG00000176049; Tissue enhanced (brain).
DR MIM; 611197; gene.
DR neXtProt; NX_Q96AA8; -.
DR OpenTargets; ENSG00000176049; -.
DR PharmGKB; PA143485509; -.
DR VEuPathDB; HostDB:ENSG00000176049; -.
DR eggNOG; ENOG502QTTJ; Eukaryota.
DR GeneTree; ENSGT00940000153713; -.
DR HOGENOM; CLU_020294_1_0_1; -.
DR InParanoid; Q96AA8; -.
DR OMA; KIKWECE; -.
DR OrthoDB; 727914at2759; -.
DR PhylomeDB; Q96AA8; -.
DR TreeFam; TF331900; -.
DR PathwayCommons; Q96AA8; -.
DR SignaLink; Q96AA8; -.
DR BioGRID-ORCS; 9832; 7 hits in 1056 CRISPR screens.
DR ChiTaRS; JAKMIP2; human.
DR GenomeRNAi; 9832; -.
DR Pharos; Q96AA8; Tbio.
DR PRO; PR:Q96AA8; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q96AA8; protein.
DR Bgee; ENSG00000176049; Expressed in adrenal tissue and 145 other tissues.
DR Genevisible; Q96AA8; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
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 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Golgi apparatus; Reference proteome.
FT CHAIN 1..810
FT /note="Janus kinase and microtubule-interacting protein 2"
FT /id="PRO_0000050762"
FT REGION 261..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 437..465
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 13..102
FT /evidence="ECO:0000255"
FT COILED 148..178
FT /evidence="ECO:0000255"
FT COILED 207..244
FT /evidence="ECO:0000255"
FT COILED 280..419
FT /evidence="ECO:0000255"
FT COILED 468..597
FT /evidence="ECO:0000255"
FT COILED 664..808
FT /evidence="ECO:0000255"
FT COMPBIAS 441..455
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..43
FT /note="MSKKGRNKGEKPEALIVALQAANEDLRTKLTDIQIELHQEKSK -> M (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055264"
FT VAR_SEQ 539..559
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9628581"
FT /id="VSP_002430"
FT VAR_SEQ 805..810
FT /note="SNRKHG -> FLFLFLFFSLAFILWP (in isoform 2, isoform 3
FT and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17572408, ECO:0000303|PubMed:9628581"
FT /id="VSP_028230"
FT VARIANT 106
FT /note="V -> I (in dbSNP:rs3749736)"
FT /id="VAR_022059"
FT VARIANT 315
FT /note="R -> C (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs761359853)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035930"
SQ SEQUENCE 810 AA; 94934 MW; D81480AD76DA6A10 CRC64;
MSKKGRNKGE KPEALIVALQ AANEDLRTKL TDIQIELHQE KSKVSKLERE KTQEAKRIRE
LEQRKHTVLV TELKAKLHEE KMKELQAVRE NLIKQHEQEM SRTVKVRDGE IQRLKSALCA
LRDGSSDKVR TALTIEAREE ARKLFDTERL KLLQEIADLK TAKKQVDEAL SNMIQADKIK
AGDLRSEHQS HQEAISKIKW ESERDIRRLM DEIKAKDRII FSLEKELETQ TGYVQKLQLQ
KEALDEQLFL VKEAECNMSS PKREIPGRAG DGSEHCSSPD LRRNQKRIAE LNATIRKLED
RNTLLGDERN ELLKRVRETE KQCKPLLERN KCLAKRNDEL MVSLQRMEEK LKAVTKENSE
MREKITSHPP LKKLKSLNDL DQANEEQETE FLKLQVIEQQ NIIDELTRDR EKLIRRRKHR
RSSKPIKRPV LDPFIGYDED SMDSETSSMA SFRTDRTPAT PDDDLDESLA AEESELRFRQ
LTKEYQALQR AYALLQEQTG GIIDAEREAK AQEQLQAEVL RYKAKIEDLE ATLAQKGQDS
HWVEDKQLFI KRNQELLEKI EKQEAENHRL QQELQDARDQ NELLEFRNLE LEERERRSPP
FNLQIHPFSD GVSALQIYCM KEGVKDVNIP DLIKQLDILG DNGNLRNEEQ VAIIQASTVL
SLAEKWIQQI EGAEAALHQK MMELESDMEQ FCKIKGYLEE ELDYRKQALD QAYMRIQELE
ATLYNALQQE TVIKFGELLS EKQQEELRTA VEKLRRQMLR KSREYDCQIL QERMELLQQA
HQRIRDLEDK TDIQKRQIKD LEEKSNRKHG
