DEFI8_MOUSE
ID DEFI8_MOUSE Reviewed; 448 AA.
AC Q99J78; Q3TPT6; Q3UBE6; Q3UZ91; Q8BJN0; Q8BWP0;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Differentially expressed in FDCP 8;
DE Short=DEF-8;
GN Name=Def8; Synonyms=D8Ertd713e;
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] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J;
RC TISSUE=Bone marrow, Corpus striatum, Diencephalon, Hippocampus, Liver, and
RC Ovary;
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] (ISOFORM 1).
RC STRAIN=129; TISSUE=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 NUCLEOTIDE SEQUENCE [MRNA] OF 309-414, TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RX PubMed=10460589; DOI=10.1046/j.1365-2141.1999.01551.x;
RA Hotfilder M., Baxendale S., Cross M.A., Sablitzky F.;
RT "Def-2, -3, -6 and -8, novel mouse genes differentially expressed in the
RT haemopoietic system.";
RL Br. J. Haematol. 106:335-344(1999).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-437, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Heart, and Lung;
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 [5]
RP FUNCTION, AND INTERACTION WITH PLEKHM1.
RX PubMed=27777970; DOI=10.1172/jci.insight.86330;
RA Fujiwara T., Ye S., Castro-Gomes T., Winchell C.G., Andrews N.W.,
RA Voth D.E., Varughese K.I., Mackintosh S.G., Feng Y., Pavlos N.,
RA Nakamura T., Manolagas S.C., Zhao H.;
RT "PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone
RT homeostasis.";
RL JCI Insight 1:E86330-E86330(2016).
CC -!- FUNCTION: Positively regulates lysosome peripheral distribution and
CC ruffled border formation in osteoclasts (PubMed:27777970). Involved in
CC bone resorption (PubMed:27777970). {ECO:0000269|PubMed:27777970}.
CC -!- SUBUNIT: Interacts (via C-terminus) with PLEKHM1; this interaction is
CC weak but increased in a RAB7A-dependent manner (PubMed:27777970).
CC {ECO:0000269|PubMed:27777970}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q99J78-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q99J78-2; Sequence=VSP_031825;
CC -!- TISSUE SPECIFICITY: Abundantly expressed in peripheral blood
CC leukocytes. Highly expressed in B-cells. Also present in lymph node and
CC appendix. Down-regulated upon macrophage/granulocyte differentiation.
CC Weakly expressed in bone marrow and spleen. Weakly or not expressed in
CC thymus and fetal liver. {ECO:0000269|PubMed:10460589}.
CC -!- DEVELOPMENTAL STAGE: Abundantly expressed during embryogenesis.
CC {ECO:0000269|PubMed:10460589}.
CC -!- SIMILARITY: Belongs to the DEF8 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC34239.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=X96708; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK034028; BAC28551.1; -; mRNA.
DR EMBL; AK050405; BAC34239.1; ALT_INIT; mRNA.
DR EMBL; AK081295; BAC38184.1; -; mRNA.
DR EMBL; AK087778; BAC39999.1; -; mRNA.
DR EMBL; AK133979; BAE21966.1; -; mRNA.
DR EMBL; AK150334; BAE29476.1; -; mRNA.
DR EMBL; AK150994; BAE30018.1; -; mRNA.
DR EMBL; AK164147; BAE37649.1; -; mRNA.
DR EMBL; BC003306; AAH03306.1; -; mRNA.
DR EMBL; X96708; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS22759.1; -. [Q99J78-1]
DR RefSeq; NP_001240712.1; NM_001253783.1.
DR RefSeq; NP_001240713.1; NM_001253784.1.
DR RefSeq; NP_001268732.1; NM_001281803.1. [Q99J78-1]
DR RefSeq; NP_473387.1; NM_054046.5. [Q99J78-1]
DR RefSeq; XP_006531039.1; XM_006530976.3.
DR RefSeq; XP_006531040.1; XM_006530977.3. [Q99J78-1]
DR RefSeq; XP_006531041.1; XM_006530978.3. [Q99J78-1]
DR AlphaFoldDB; Q99J78; -.
DR SMR; Q99J78; -.
DR STRING; 10090.ENSMUSP00000070579; -.
DR iPTMnet; Q99J78; -.
DR PhosphoSitePlus; Q99J78; -.
DR EPD; Q99J78; -.
DR MaxQB; Q99J78; -.
DR PaxDb; Q99J78; -.
DR PeptideAtlas; Q99J78; -.
DR PRIDE; Q99J78; -.
DR ProteomicsDB; 277310; -. [Q99J78-1]
DR ProteomicsDB; 277311; -. [Q99J78-2]
DR Antibodypedia; 57197; 171 antibodies from 18 providers.
DR DNASU; 23854; -.
DR Ensembl; ENSMUST00000065534; ENSMUSP00000070579; ENSMUSG00000001482. [Q99J78-1]
DR Ensembl; ENSMUST00000093049; ENSMUSP00000090737; ENSMUSG00000001482. [Q99J78-2]
DR Ensembl; ENSMUST00000108830; ENSMUSP00000104458; ENSMUSG00000001482. [Q99J78-1]
DR GeneID; 23854; -.
DR KEGG; mmu:23854; -.
DR UCSC; uc009nvx.2; mouse. [Q99J78-2]
DR UCSC; uc009nvy.2; mouse. [Q99J78-1]
DR CTD; 54849; -.
DR MGI; MGI:1346331; Def8.
DR VEuPathDB; HostDB:ENSMUSG00000001482; -.
DR eggNOG; KOG1829; Eukaryota.
DR GeneTree; ENSGT00940000159182; -.
DR HOGENOM; CLU_034500_4_0_1; -.
DR InParanoid; Q99J78; -.
DR OrthoDB; 177737at2759; -.
DR PhylomeDB; Q99J78; -.
DR TreeFam; TF317067; -.
DR BioGRID-ORCS; 23854; 1 hit in 72 CRISPR screens.
DR ChiTaRS; Def8; mouse.
DR PRO; PR:Q99J78; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; Q99J78; protein.
DR Bgee; ENSMUSG00000001482; Expressed in right kidney and 245 other tissues.
DR ExpressionAtlas; Q99J78; baseline and differential.
DR Genevisible; Q99J78; MM.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0032418; P:lysosome localization; IMP:UniProtKB.
DR GO; GO:0045780; P:positive regulation of bone resorption; IMP:UniProtKB.
DR GO; GO:1900029; P:positive regulation of ruffle assembly; IMP:UniProtKB.
DR InterPro; IPR046349; C1-like_sf.
DR InterPro; IPR002219; PE/DAG-bd.
DR InterPro; IPR025258; Zf-RING_9.
DR Pfam; PF00130; C1_1; 1.
DR Pfam; PF13901; zf-RING_9; 1.
DR SMART; SM00109; C1; 2.
DR SMART; SM01175; DUF4206; 1.
DR SUPFAM; SSF57889; SSF57889; 1.
DR PROSITE; PS00479; ZF_DAG_PE_1; 1.
DR PROSITE; PS50081; ZF_DAG_PE_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Metal-binding; Phosphoprotein; Reference proteome;
KW Repeat; Zinc; Zinc-finger.
FT CHAIN 1..448
FT /note="Differentially expressed in FDCP 8"
FT /id="PRO_0000321914"
FT ZN_FING 135..186
FT /note="Phorbol-ester/DAG-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00226"
FT ZN_FING 365..425
FT /note="Phorbol-ester/DAG-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00226"
FT REGION 18..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 21..37
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 437
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT VAR_SEQ 416..448
FT /note="DCYYDNSTTCPKCARLTLRKQSLFQEPGLDMDA -> WVRPVAHSRLGVEAP
FT PHFLSRMPSLVLGCSWSGGTWHCCPERGDRHWAFAVFLSKSFAGVRPWCLCLN (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031825"
FT CONFLICT 32
FT /note="S -> R (in Ref. 1; BAC38184)"
FT /evidence="ECO:0000305"
FT CONFLICT 82..85
FT /note="LRQA -> VRPG (in Ref. 1; BAC38184)"
FT /evidence="ECO:0000305"
FT CONFLICT 90
FT /note="K -> T (in Ref. 1; BAC38184)"
FT /evidence="ECO:0000305"
FT CONFLICT 98
FT /note="E -> G (in Ref. 1; BAE30018/BAE29476)"
FT /evidence="ECO:0000305"
FT CONFLICT 228
FT /note="S -> G (in Ref. 1; BAC38184)"
FT /evidence="ECO:0000305"
FT CONFLICT 410
FT /note="S -> P (in Ref. 1; BAE21966)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 448 AA; 52311 MW; CE472203B4CDDD93 CRC64;
MEYDEKLVRF RQAHLNPFNK QLGPRHHEQE PSEKVTSEDT LPELPAGEPE FHYSERMMDL
GLSEDHFSRP VGLFLASDVQ QLRQAIEECK QVILELPEQS EKQKDAVVRL IHLRLKLQEL
KDPNEEEPNI RVLLEHRFYK EKSKSVKQTC DKCNTIIWGL IQTWYTCTGC CYRCHSKCLN
LISKPCVSSK VSHQAEYELN ICPETGLDSQ DYRCAECRAP ISLRGVPSEA RQCDYTGQYY
CSHCHWNDLA VIPARVVHNW DFEPRKVSRC SMRYLALMVS RPVLRLREIN PLLFNYVEEL
VEIRKLRQDI LLMKPYFITC KEAMEARLLL QLQDRQHFVE NDEMYSIQDL LEVHMGRLSC
SLTEIHTLFA KHIKLDCERC QAKGFVCELC KEGDVLFPFD SHTSVCNDCS AVFHRDCYYD
NSTTCPKCAR LTLRKQSLFQ EPGLDMDA
