JAGN1_HUMAN
ID JAGN1_HUMAN Reviewed; 183 AA.
AC Q8N5M9; Q8NCF6; Q96SW1;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Protein jagunal homolog 1 {ECO:0000305};
GN Name=JAGN1 {ECO:0000312|HGNC:HGNC:26926};
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].
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 [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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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 [4]
RP IDENTIFICATION.
RX PubMed=17389229; DOI=10.1083/jcb.200701048;
RA Lee S., Cooley L.;
RT "Jagunal is required for reorganizing the endoplasmic reticulum during
RT Drosophila oogenesis.";
RL J. Cell Biol. 176:941-952(2007).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH COPA;
RP COPB2 AND COPG2, INVOLVEMENT IN SCN6, AND VARIANTS SCN6 SER-14; GLN-20;
RP ASP-21; TYR-44 AND ARG-162.
RX PubMed=25129144; DOI=10.1038/ng.3069;
RA Boztug K., Jaervinen P.M., Salzer E., Racek T., Moench S., Garncarz W.,
RA Gertz E.M., Schaeffer A.A., Antonopoulos A., Haslam S.M., Schieck L.,
RA Puchalka J., Diestelhorst J., Appaswamy G., Lescoeur B., Giambruno R.,
RA Bigenzahn J.W., Elling U., Pfeifer D., Conde C.D., Albert M.H., Welte K.,
RA Brandes G., Sherkat R., van der Werff Ten Bosch J., Rezaei N., Etzioni A.,
RA Bellanne-Chantelot C., Superti-Furga G., Penninger J.M., Bennett K.L.,
RA von Blume J., Dell A., Donadieu J., Klein C.;
RT "JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital
RT neutropenia.";
RL Nat. Genet. 46:1021-1027(2014).
CC -!- FUNCTION: Endoplasmic reticulum transmembrane protein involved in
CC vesicle-mediated transport, which is required for neutrophil function.
CC Required for vesicle-mediated transport; it is however unclear whether
CC it is involved in early secretory pathway or intracellular protein
CC transport. Acts as a regulator of neutrophil function, probably via its
CC role in vesicle-mediated transport: required for defense against fungal
CC pathogens and for granulocyte colony-stimulating factor (GM-CSF)
CC signaling pathway; possibly by regulating glycosylation and/or
CC targeting of proteins contributing to the viability and migration of
CC neutrophils. {ECO:0000269|PubMed:25129144, ECO:0000305}.
CC -!- SUBUNIT: Interacts with COPA, COPB2 and COPG2.
CC {ECO:0000269|PubMed:25129144}.
CC -!- INTERACTION:
CC Q8N5M9; Q9NRZ5: AGPAT4; NbExp=3; IntAct=EBI-10266796, EBI-1754287;
CC Q8N5M9; Q13520: AQP6; NbExp=3; IntAct=EBI-10266796, EBI-13059134;
CC Q8N5M9; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-10266796, EBI-11343438;
CC Q8N5M9; Q9BXK5: BCL2L13; NbExp=3; IntAct=EBI-10266796, EBI-747430;
CC Q8N5M9; O15155: BET1; NbExp=3; IntAct=EBI-10266796, EBI-749204;
CC Q8N5M9; O95393: BMP10; NbExp=3; IntAct=EBI-10266796, EBI-3922513;
CC Q8N5M9; Q12981: BNIP1; NbExp=3; IntAct=EBI-10266796, EBI-4402847;
CC Q8N5M9; Q12983: BNIP3; NbExp=3; IntAct=EBI-10266796, EBI-749464;
CC Q8N5M9; Q8WZ55: BSND; NbExp=3; IntAct=EBI-10266796, EBI-7996695;
CC Q8N5M9; Q6UXG8-3: BTNL9; NbExp=3; IntAct=EBI-10266796, EBI-17953245;
CC Q8N5M9; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-10266796, EBI-12003442;
CC Q8N5M9; Q5R3K3: CALHM6; NbExp=3; IntAct=EBI-10266796, EBI-19051471;
CC Q8N5M9; Q8NHW4: CCL4L2; NbExp=3; IntAct=EBI-10266796, EBI-10271156;
CC Q8N5M9; P11912: CD79A; NbExp=3; IntAct=EBI-10266796, EBI-7797864;
CC Q8N5M9; O14735: CDIPT; NbExp=3; IntAct=EBI-10266796, EBI-358858;
CC Q8N5M9; Q9HA82: CERS4; NbExp=3; IntAct=EBI-10266796, EBI-2622997;
CC Q8N5M9; Q99675: CGRRF1; NbExp=3; IntAct=EBI-10266796, EBI-2130213;
CC Q8N5M9; O95471: CLDN7; NbExp=3; IntAct=EBI-10266796, EBI-740744;
CC Q8N5M9; Q2HXU8-2: CLEC12B; NbExp=3; IntAct=EBI-10266796, EBI-12811991;
CC Q8N5M9; Q8WXI8: CLEC4D; NbExp=3; IntAct=EBI-10266796, EBI-12703404;
CC Q8N5M9; Q9BXN2: CLEC7A; NbExp=3; IntAct=EBI-10266796, EBI-3939278;
CC Q8N5M9; Q96DZ9-2: CMTM5; NbExp=3; IntAct=EBI-10266796, EBI-11522780;
CC Q8N5M9; Q5RI15: COX20; NbExp=3; IntAct=EBI-10266796, EBI-2834035;
CC Q8N5M9; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-10266796, EBI-6942903;
CC Q8N5M9; Q9BQA9: CYBC1; NbExp=3; IntAct=EBI-10266796, EBI-2680384;
CC Q8N5M9; P78329: CYP4F2; NbExp=3; IntAct=EBI-10266796, EBI-1752413;
CC Q8N5M9; Q96LL9: DNAJC30; NbExp=3; IntAct=EBI-10266796, EBI-8639143;
CC Q8N5M9; Q15125: EBP; NbExp=3; IntAct=EBI-10266796, EBI-3915253;
CC Q8N5M9; Q9HAV5: EDA2R; NbExp=3; IntAct=EBI-10266796, EBI-526033;
CC Q8N5M9; Q08426: EHHADH; NbExp=3; IntAct=EBI-10266796, EBI-2339219;
CC Q8N5M9; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-10266796, EBI-18535450;
CC Q8N5M9; Q9UKR5: ERG28; NbExp=3; IntAct=EBI-10266796, EBI-711490;
CC Q8N5M9; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-10266796, EBI-781551;
CC Q8N5M9; Q9Y624: F11R; NbExp=3; IntAct=EBI-10266796, EBI-742600;
CC Q8N5M9; Q8N128-2: FAM177A1; NbExp=3; IntAct=EBI-10266796, EBI-12201693;
CC Q8N5M9; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-10266796, EBI-18304435;
CC Q8N5M9; P12314: FCGR1A; NbExp=3; IntAct=EBI-10266796, EBI-2869867;
CC Q8N5M9; Q96LA5-2: FCRL2; NbExp=3; IntAct=EBI-10266796, EBI-17263163;
CC Q8N5M9; Q96PJ5: FCRL4; NbExp=3; IntAct=EBI-10266796, EBI-4314687;
CC Q8N5M9; P37268: FDFT1; NbExp=3; IntAct=EBI-10266796, EBI-714550;
CC Q8N5M9; Q9Y3D6: FIS1; NbExp=3; IntAct=EBI-10266796, EBI-3385283;
CC Q8N5M9; Q14318: FKBP8; NbExp=3; IntAct=EBI-10266796, EBI-724839;
CC Q8N5M9; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-10266796, EBI-12142257;
CC Q8N5M9; A2A2Y4: FRMD3; NbExp=3; IntAct=EBI-10266796, EBI-6911547;
CC Q8N5M9; Q9H0Q3: FXYD6; NbExp=3; IntAct=EBI-10266796, EBI-713304;
CC Q8N5M9; Q8WWP7: GIMAP1; NbExp=3; IntAct=EBI-10266796, EBI-11991950;
CC Q8N5M9; Q96F15: GIMAP5; NbExp=3; IntAct=EBI-10266796, EBI-6166686;
CC Q8N5M9; O95377: GJB5; NbExp=3; IntAct=EBI-10266796, EBI-3909454;
CC Q8N5M9; Q8NBJ4: GOLM1; NbExp=3; IntAct=EBI-10266796, EBI-712073;
CC Q8N5M9; O14653: GOSR2; NbExp=3; IntAct=EBI-10266796, EBI-4401517;
CC Q8N5M9; P55259-4: GP2; NbExp=3; IntAct=EBI-10266796, EBI-17746146;
CC Q8N5M9; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-10266796, EBI-13345167;
CC Q8N5M9; O60883: GPR37L1; NbExp=3; IntAct=EBI-10266796, EBI-2927498;
CC Q8N5M9; P09601: HMOX1; NbExp=3; IntAct=EBI-10266796, EBI-2806151;
CC Q8N5M9; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-10266796, EBI-18053395;
CC Q8N5M9; Q9BUP3-3: HTATIP2; NbExp=3; IntAct=EBI-10266796, EBI-12937691;
CC Q8N5M9; O60725: ICMT; NbExp=3; IntAct=EBI-10266796, EBI-11721771;
CC Q8N5M9; Q9Y5U9: IER3IP1; NbExp=3; IntAct=EBI-10266796, EBI-725665;
CC Q8N5M9; P38484: IFNGR2; NbExp=3; IntAct=EBI-10266796, EBI-3905457;
CC Q8N5M9; P26951: IL3RA; NbExp=3; IntAct=EBI-10266796, EBI-1757512;
CC Q8N5M9; Q8N6L0: KASH5; NbExp=6; IntAct=EBI-10266796, EBI-749265;
CC Q8N5M9; Q09470: KCNA1; NbExp=5; IntAct=EBI-10266796, EBI-8286599;
CC Q8N5M9; P43628: KIR2DL3; NbExp=3; IntAct=EBI-10266796, EBI-8632435;
CC Q8N5M9; Q8N743: KIR3DL3; NbExp=3; IntAct=EBI-10266796, EBI-17272405;
CC Q8N5M9; Q68G75: LEMD1; NbExp=3; IntAct=EBI-10266796, EBI-12268900;
CC Q8N5M9; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-10266796, EBI-2820517;
CC Q8N5M9; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-10266796, EBI-12033434;
CC Q8N5M9; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-10266796, EBI-11956541;
CC Q8N5M9; Q9HC36: MRM3; NbExp=3; IntAct=EBI-10266796, EBI-1045440;
CC Q8N5M9; Q9H2K0: MTIF3; NbExp=3; IntAct=EBI-10266796, EBI-3923617;
CC Q8N5M9; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-10266796, EBI-10317425;
CC Q8N5M9; Q02297-10: NRG1; NbExp=3; IntAct=EBI-10266796, EBI-12842334;
CC Q8N5M9; Q9NUU6: OTULINL; NbExp=3; IntAct=EBI-10266796, EBI-6916492;
CC Q8N5M9; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-10266796, EBI-716063;
CC Q8N5M9; P60201-2: PLP1; NbExp=3; IntAct=EBI-10266796, EBI-12188331;
CC Q8N5M9; O43688: PLPP2; NbExp=3; IntAct=EBI-10266796, EBI-722017;
CC Q8N5M9; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-10266796, EBI-10192441;
CC Q8N5M9; Q5QGT7: RTP2; NbExp=3; IntAct=EBI-10266796, EBI-10244780;
CC Q8N5M9; Q9NTJ5: SACM1L; NbExp=3; IntAct=EBI-10266796, EBI-3917235;
CC Q8N5M9; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-10266796, EBI-3920694;
CC Q8N5M9; O00767: SCD; NbExp=3; IntAct=EBI-10266796, EBI-2684237;
CC Q8N5M9; O75396: SEC22B; NbExp=3; IntAct=EBI-10266796, EBI-1058865;
CC Q8N5M9; Q9Y6X1: SERP1; NbExp=3; IntAct=EBI-10266796, EBI-10329948;
CC Q8N5M9; Q96DU3: SLAMF6; NbExp=3; IntAct=EBI-10266796, EBI-14058448;
CC Q8N5M9; O95436-2: SLC34A2; NbExp=3; IntAct=EBI-10266796, EBI-12811757;
CC Q8N5M9; Q0VAQ4: SMAGP; NbExp=3; IntAct=EBI-10266796, EBI-10226799;
CC Q8N5M9; B2RUZ4: SMIM1; NbExp=3; IntAct=EBI-10266796, EBI-12188413;
CC Q8N5M9; Q96E16: SMIM19; NbExp=3; IntAct=EBI-10266796, EBI-17657124;
CC Q8N5M9; Q8TAV4: STOML3; NbExp=3; IntAct=EBI-10266796, EBI-12900395;
CC Q8N5M9; Q16623: STX1A; NbExp=3; IntAct=EBI-10266796, EBI-712466;
CC Q8N5M9; Q13277: STX3; NbExp=3; IntAct=EBI-10266796, EBI-1394295;
CC Q8N5M9; Q13190: STX5; NbExp=3; IntAct=EBI-10266796, EBI-714206;
CC Q8N5M9; O15400: STX7; NbExp=3; IntAct=EBI-10266796, EBI-3221827;
CC Q8N5M9; Q9UNK0: STX8; NbExp=3; IntAct=EBI-10266796, EBI-727240;
CC Q8N5M9; Q9NZ01: TECR; NbExp=3; IntAct=EBI-10266796, EBI-2877718;
CC Q8N5M9; O14925: TIMM23; NbExp=3; IntAct=EBI-10266796, EBI-1047996;
CC Q8N5M9; Q9NV29: TMEM100; NbExp=3; IntAct=EBI-10266796, EBI-8644968;
CC Q8N5M9; Q9BVX2: TMEM106C; NbExp=3; IntAct=EBI-10266796, EBI-2821497;
CC Q8N5M9; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-10266796, EBI-10171534;
CC Q8N5M9; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-10266796, EBI-10694905;
CC Q8N5M9; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-10266796, EBI-8638294;
CC Q8N5M9; Q8N511: TMEM199; NbExp=3; IntAct=EBI-10266796, EBI-10265825;
CC Q8N5M9; Q6UWW9: TMEM207; NbExp=3; IntAct=EBI-10266796, EBI-13301303;
CC Q8N5M9; Q96Q45-2: TMEM237; NbExp=3; IntAct=EBI-10266796, EBI-10982110;
CC Q8N5M9; Q9NWH2: TMEM242; NbExp=3; IntAct=EBI-10266796, EBI-10315004;
CC Q8N5M9; Q9BU79: TMEM243; NbExp=3; IntAct=EBI-10266796, EBI-12887458;
CC Q8N5M9; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-10266796, EBI-18178701;
CC Q8N5M9; Q6PI78: TMEM65; NbExp=3; IntAct=EBI-10266796, EBI-6656213;
CC Q8N5M9; O43557: TNFSF14; NbExp=3; IntAct=EBI-10266796, EBI-524131;
CC Q8N5M9; Q9NSU2-1: TREX1; NbExp=3; IntAct=EBI-10266796, EBI-16746122;
CC Q8N5M9; A0AVG3: TSNARE1; NbExp=3; IntAct=EBI-10266796, EBI-12003468;
CC Q8N5M9; Q9Y385: UBE2J1; NbExp=3; IntAct=EBI-10266796, EBI-988826;
CC Q8N5M9; Q9NZ43: USE1; NbExp=3; IntAct=EBI-10266796, EBI-742842;
CC Q8N5M9; P63027: VAMP2; NbExp=3; IntAct=EBI-10266796, EBI-520113;
CC Q8N5M9; O95183: VAMP5; NbExp=3; IntAct=EBI-10266796, EBI-10191195;
CC Q8N5M9; Q9P0L0: VAPA; NbExp=3; IntAct=EBI-10266796, EBI-1059156;
CC Q8N5M9; O95292: VAPB; NbExp=3; IntAct=EBI-10266796, EBI-1188298;
CC Q8N5M9; Q9Y279: VSIG4; NbExp=3; IntAct=EBI-10266796, EBI-903131;
CC Q8N5M9; Q9UEU0: VTI1B; NbExp=3; IntAct=EBI-10266796, EBI-723716;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:25129144}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC {ECO:0000269|PubMed:25129144}.
CC -!- DISEASE: Neutropenia, severe congenital 6, autosomal recessive (SCN6)
CC [MIM:616022]: A disorder of hematopoiesis characterized by maturation
CC arrest of granulopoiesis at the level of promyelocytes with peripheral
CC blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
CC severe bacterial infections. {ECO:0000269|PubMed:25129144}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the jagunal family. {ECO:0000305}.
CC -!- CAUTION: Experiments in mouse confirm the importance of JAGN1 in
CC neutrophil function with some differences. Mice lacking JAGN1 do not
CC show neutropenia and display increased susceptibility to fungal
CC infections due to defective killing capacity of neutrophil
CC granulocytes. {ECO:0000269|PubMed:25129144, ECO:0000305}.
CC -!- CAUTION: Variant SCNN 'Gln-20' is described as 'Glu-20'
CC (PubMed:25129144). However, based on the substitution described in the
CC paper, it is clearly a 'Gln-20' variant. {ECO:0000305|PubMed:25129144}.
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DR EMBL; AK027508; BAB55163.1; -; mRNA.
DR EMBL; AK074760; BAC11188.1; -; mRNA.
DR EMBL; CH471055; EAW64015.1; -; Genomic_DNA.
DR EMBL; BC032101; AAH32101.1; -; mRNA.
DR CCDS; CCDS2588.1; -.
DR RefSeq; NP_115881.3; NM_032492.3.
DR PDB; 6WVD; X-ray; 2.25 A; A=2-183.
DR PDBsum; 6WVD; -.
DR AlphaFoldDB; Q8N5M9; -.
DR SMR; Q8N5M9; -.
DR BioGRID; 124115; 145.
DR IntAct; Q8N5M9; 125.
DR STRING; 9606.ENSP00000306106; -.
DR GlyGen; Q8N5M9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N5M9; -.
DR PhosphoSitePlus; Q8N5M9; -.
DR BioMuta; JAGN1; -.
DR DMDM; 74729022; -.
DR EPD; Q8N5M9; -.
DR jPOST; Q8N5M9; -.
DR MassIVE; Q8N5M9; -.
DR MaxQB; Q8N5M9; -.
DR PaxDb; Q8N5M9; -.
DR PeptideAtlas; Q8N5M9; -.
DR PRIDE; Q8N5M9; -.
DR ProteomicsDB; 72076; -.
DR TopDownProteomics; Q8N5M9; -.
DR Antibodypedia; 59146; 67 antibodies from 16 providers.
DR DNASU; 84522; -.
DR Ensembl; ENST00000647897.1; ENSP00000496942.1; ENSG00000171135.15.
DR GeneID; 84522; -.
DR KEGG; hsa:84522; -.
DR MANE-Select; ENST00000647897.1; ENSP00000496942.1; NM_032492.4; NP_115881.3.
DR UCSC; uc003btt.5; human.
DR CTD; 84522; -.
DR DisGeNET; 84522; -.
DR GeneCards; JAGN1; -.
DR HGNC; HGNC:26926; JAGN1.
DR HPA; ENSG00000171135; Low tissue specificity.
DR MalaCards; JAGN1; -.
DR MIM; 616012; gene.
DR MIM; 616022; phenotype.
DR neXtProt; NX_Q8N5M9; -.
DR OpenTargets; ENSG00000171135; -.
DR Orphanet; 423384; Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency.
DR PharmGKB; PA134954931; -.
DR VEuPathDB; HostDB:ENSG00000171135; -.
DR eggNOG; KOG4054; Eukaryota.
DR GeneTree; ENSGT00390000005596; -.
DR HOGENOM; CLU_121621_0_0_1; -.
DR InParanoid; Q8N5M9; -.
DR OMA; VWRGYPY; -.
DR OrthoDB; 1452436at2759; -.
DR PhylomeDB; Q8N5M9; -.
DR TreeFam; TF313137; -.
DR PathwayCommons; Q8N5M9; -.
DR SignaLink; Q8N5M9; -.
DR BioGRID-ORCS; 84522; 14 hits in 1078 CRISPR screens.
DR GenomeRNAi; 84522; -.
DR Pharos; Q8N5M9; Tbio.
DR PRO; PR:Q8N5M9; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8N5M9; protein.
DR Bgee; ENSG00000171135; Expressed in ileal mucosa and 183 other tissues.
DR ExpressionAtlas; Q8N5M9; baseline and differential.
DR Genevisible; Q8N5M9; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:1904577; P:cellular response to tunicamycin; IEA:Ensembl.
DR GO; GO:0050832; P:defense response to fungus; IEA:Ensembl.
DR GO; GO:0007029; P:endoplasmic reticulum organization; IBA:GO_Central.
DR GO; GO:0006887; P:exocytosis; TAS:UniProtKB.
DR GO; GO:0038158; P:granulocyte colony-stimulating factor signaling pathway; IMP:UniProtKB.
DR GO; GO:0061179; P:negative regulation of insulin secretion involved in cellular response to glucose stimulus; IEA:Ensembl.
DR GO; GO:0030223; P:neutrophil differentiation; IMP:UniProtKB.
DR GO; GO:0002446; P:neutrophil mediated immunity; IEA:Ensembl.
DR GO; GO:1990266; P:neutrophil migration; IEA:Ensembl.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0016192; P:vesicle-mediated transport; IMP:UniProtKB.
DR InterPro; IPR009787; Jagunal.
DR PANTHER; PTHR20955; PTHR20955; 1.
DR Pfam; PF07086; Jagunal; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Disease variant; Endoplasmic reticulum; Immunity; Membrane;
KW Phosphoprotein; Protein transport; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..183
FT /note="Protein jagunal homolog 1"
FT /id="PRO_0000313608"
FT TOPO_DOM 1..39
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 40..60
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 61..71
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 72..92
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 93..96
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 97..117
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 118..137
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 138..158
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 159..183
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT MOD_RES 3
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT VARIANT 14
FT /note="G -> S (in SCN6; dbSNP:rs786205704)"
FT /evidence="ECO:0000269|PubMed:25129144"
FT /id="VAR_071795"
FT VARIANT 20
FT /note="R -> Q (in SCN6; dbSNP:rs777966677)"
FT /evidence="ECO:0000269|PubMed:25129144"
FT /id="VAR_071796"
FT VARIANT 21
FT /note="E -> D (in SCN6; dbSNP:rs587777729)"
FT /evidence="ECO:0000269|PubMed:25129144"
FT /id="VAR_071797"
FT VARIANT 44
FT /note="H -> Y (in SCN6; dbSNP:rs587777728)"
FT /evidence="ECO:0000269|PubMed:25129144"
FT /id="VAR_071798"
FT VARIANT 162
FT /note="Q -> R (in SCN6; dbSNP:rs587777730)"
FT /evidence="ECO:0000269|PubMed:25129144"
FT /id="VAR_071799"
FT CONFLICT 9
FT /note="A -> T (in Ref. 1; BAC11188)"
FT /evidence="ECO:0000305"
FT CONFLICT 58
FT /note="G -> E (in Ref. 1; BAB55163)"
FT /evidence="ECO:0000305"
FT CONFLICT 61
FT /note="R -> G (in Ref. 1; BAB55163)"
FT /evidence="ECO:0000305"
FT CONFLICT 149
FT /note="Y -> H (in Ref. 1; BAB55163)"
FT /evidence="ECO:0000305"
FT HELIX 19..59
FT /evidence="ECO:0007829|PDB:6WVD"
FT TURN 65..67
FT /evidence="ECO:0007829|PDB:6WVD"
FT HELIX 75..78
FT /evidence="ECO:0007829|PDB:6WVD"
FT HELIX 79..81
FT /evidence="ECO:0007829|PDB:6WVD"
FT HELIX 82..91
FT /evidence="ECO:0007829|PDB:6WVD"
FT TURN 92..95
FT /evidence="ECO:0007829|PDB:6WVD"
FT HELIX 97..110
FT /evidence="ECO:0007829|PDB:6WVD"
FT HELIX 113..121
FT /evidence="ECO:0007829|PDB:6WVD"
FT HELIX 123..132
FT /evidence="ECO:0007829|PDB:6WVD"
FT HELIX 144..183
FT /evidence="ECO:0007829|PDB:6WVD"
SQ SEQUENCE 183 AA; 21125 MW; 5F203B99E670D7A7 CRC64;
MASRAGPRAA GTDGSDFQHR ERVAMHYQMS VTLKYEIKKL IYVHLVIWLL LVAKMSVGHL
RLLSHDQVAM PYQWEYPYLL SILPSLLGLL SFPRNNISYL VLSMISMGLF SIAPLIYGSM
EMFPAAQQLY RHGKAYRFLF GFSAVSIMYL VLVLAVQVHA WQLYYSKKLL DSWFTSTQEK
KHK
