NHLC2_MOUSE
ID NHLC2_MOUSE Reviewed; 725 AA.
AC Q8BZW8; Q80XU0;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=NHL repeat-containing protein 2;
GN Name=Nhlrc2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Lung;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=FVB/N, and NMRI; TISSUE=Liver, and Mammary tumor;
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 [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain, Brown adipose tissue, Heart, Kidney, Liver, Lung, Pancreas,
RC Spleen, and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP FUNCTION.
RA Delhotal J.D.;
RT "Characterization of NHLRC2 gene-edited mice: a model for bovine
RT developmental duplications.";
RL Thesis (2017), University of Illinois, United States.
RN [5]
RP DISRUPTION PHENOTYPE, FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=29423877; DOI=10.1007/s00401-018-1817-z;
RA Uusimaa J., Kaarteenaho R., Paakkola T., Tuominen H., Karjalainen M.K.,
RA Nadaf J., Varilo T., Uusi-Maekelae M., Suo-Palosaari M., Pietilae I.,
RA Hiltunen A.E., Ruddock L., Alanen H., Biterova E., Miinalainen I.,
RA Salminen A., Soininen R., Manninen A., Sormunen R., Kaakinen M.,
RA Vuolteenaho R., Herva R., Vieira P., Dunder T., Kokkonen H., Moilanen J.S.,
RA Rantala H., Nogee L.M., Majewski J., Raemet M., Hallman M., Hinttala R.;
RT "NHLRC2 variants identified in patients with fibrosis, neurodegeneration,
RT and cerebral angiomatosis (FINCA): characterisation of a novel
RT cerebropulmonary disease.";
RL Acta Neuropathol. 135:727-742(2018).
CC -!- FUNCTION: Required for normal embryonic development.
CC {ECO:0000269|PubMed:29423877, ECO:0000269|Ref.4}.
CC -!- SUBUNIT: Monomer. {ECO:0000250|UniProtKB:Q8NBF2}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q8NBF2}.
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:29423877}.
CC -!- DISRUPTION PHENOTYPE: Full embryonic lethality. No homozygous embryos
CC are present at 2.5 dpc. {ECO:0000269|PubMed:29423877}.
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DR EMBL; AK033384; BAC28258.1; -; mRNA.
DR EMBL; BC041104; AAH41104.1; -; mRNA.
DR EMBL; BC095956; AAH95956.1; -; mRNA.
DR CCDS; CCDS29918.1; -.
DR RefSeq; NP_080087.1; NM_025811.3.
DR AlphaFoldDB; Q8BZW8; -.
DR SMR; Q8BZW8; -.
DR BioGRID; 211773; 7.
DR STRING; 10090.ENSMUSP00000071370; -.
DR iPTMnet; Q8BZW8; -.
DR PhosphoSitePlus; Q8BZW8; -.
DR EPD; Q8BZW8; -.
DR MaxQB; Q8BZW8; -.
DR PaxDb; Q8BZW8; -.
DR PRIDE; Q8BZW8; -.
DR ProteomicsDB; 287422; -.
DR Antibodypedia; 31898; 104 antibodies from 20 providers.
DR DNASU; 66866; -.
DR Ensembl; ENSMUST00000071423; ENSMUSP00000071370; ENSMUSG00000025078.
DR GeneID; 66866; -.
DR KEGG; mmu:66866; -.
DR UCSC; uc008hzc.1; mouse.
DR CTD; 374354; -.
DR MGI; MGI:1914116; Nhlrc2.
DR VEuPathDB; HostDB:ENSMUSG00000025078; -.
DR eggNOG; KOG2177; Eukaryota.
DR GeneTree; ENSGT00390000015483; -.
DR HOGENOM; CLU_013730_0_0_1; -.
DR InParanoid; Q8BZW8; -.
DR OMA; IAMAGVH; -.
DR OrthoDB; 1145834at2759; -.
DR PhylomeDB; Q8BZW8; -.
DR TreeFam; TF323628; -.
DR Reactome; R-MMU-114608; Platelet degranulation.
DR BioGRID-ORCS; 66866; 7 hits in 73 CRISPR screens.
DR ChiTaRS; Nhlrc2; mouse.
DR PRO; PR:Q8BZW8; -.
DR Proteomes; UP000000589; Chromosome 19.
DR RNAct; Q8BZW8; protein.
DR Bgee; ENSMUSG00000025078; Expressed in otolith organ and 232 other tissues.
DR ExpressionAtlas; Q8BZW8; baseline and differential.
DR Genevisible; Q8BZW8; MM.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR CDD; cd14951; NHL-2_like; 1.
DR Gene3D; 2.120.10.30; -; 3.
DR InterPro; IPR011042; 6-blade_b-propeller_TolB-like.
DR InterPro; IPR045302; NHL2_NHL_rpt_dom.
DR InterPro; IPR001258; NHL_repeat.
DR InterPro; IPR012336; Thioredoxin-like_fold.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR InterPro; IPR013766; Thioredoxin_domain.
DR Pfam; PF01436; NHL; 3.
DR Pfam; PF13905; Thioredoxin_8; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
DR PROSITE; PS51352; THIOREDOXIN_2; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Reference proteome; Repeat.
FT CHAIN 1..725
FT /note="NHL repeat-containing protein 2"
FT /id="PRO_0000313809"
FT DOMAIN 48..196
FT /note="Thioredoxin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00691"
FT REPEAT 212..254
FT /note="NHL 1"
FT REPEAT 265..307
FT /note="NHL 2"
FT REPEAT 335..369
FT /note="NHL 3"
FT REPEAT 409..439
FT /note="NHL 4"
FT REPEAT 461..505
FT /note="NHL 5"
FT REPEAT 517..561
FT /note="NHL 6"
FT REGION 319..338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 725 AA; 78430 MW; 9D05150767616400 CRC64;
MAAPGARGAS LSGLLPAQTS LEYALLDAVT QQEKDELVYQ YLQKVDGWEQ DLAVPEFPEG
LEWLNTEEPL SIYKDLCGKV VVLDFFTYCC INCIHVLPDL HALERRFSDK DGLLIVGVHS
AKFPNEKVLD NIKSAVLRYN ITHPVVNDAD ASLWQELEVS CWPTLVILGP RGNLLFSLIG
EGHRDKLFSY TSIALKYYKD RGQIRDGKIG IKLFKESLPP SPLLFPGKVA VDHATGRLVV
ADTGHHRILV IQKNGRIQSS IGGPNPGRKD GMFSESSFNS PQGVAIADNV IYVADTENHL
IRKIDLEAEK VTTVAGVGIQ GTDTEGGEEG DKQPISSPWD VALGTSGSEV QRNDILWIAM
AGTHQIWALL LDSGTLPKKS DLKKGTCIRF AGSGNEENRN NAYPHKAGFA QPSGLALASE
EPWSCLFVAD SESSTVRTVS LRDGAVKHLV GGERDPMNLF AFGDVDGAGI NAKLQHPLGV
AWDEERQVLY VADSYNHKIK VVDPKTKGCT TLAGTGDASD ASSSFAESAF NEPGGLCIGE
SGRLLYVADT NNHQIKVMDL EARTVSVLPV CKSDSAVVDG SFPREKQKTV PKVPKSAAHI
GLPPVTVHPG QALQLRLKLQ LPPGAKLTEG APSCWFLEAE GNEWLLQEQT PSGDIENISN
QPAISLQIPT HCLSLEAVVS VVVFLYYCSA DSSACMMKGV VFRQPLQITS TQPACAAPVE
LAYAF
