VWA8_MOUSE
ID VWA8_MOUSE Reviewed; 1905 AA.
AC Q8CC88; Q3U4P9; Q6ZQ94; Q8CDH8; Q8VCU3;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=von Willebrand factor A domain-containing protein 8;
DE Flags: Precursor;
GN Name=Vwa8; Synonyms=Kiaa0564;
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 2 AND 3).
RC STRAIN=C57BL/6J, and NOD; TISSUE=Cecum, and Testis;
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 GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=FVB/N; TISSUE=Kidney;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 660-1905.
RC TISSUE=Embryonic tail;
RX PubMed=14621295; DOI=10.1093/dnares/10.4.167;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S.,
RA Saga Y., Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: III.
RT The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 10:167-180(2003).
RN [5]
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 [6]
RP FUNCTION, TISSUE SPECIFICITY (ISOFORM 1), INDUCTION BY HIGH FAT DIET, AND
RP MUTAGENESIS OF 446-GLY--THR-453 AND 509-LEU--GLY-514.
RX PubMed=28414126; DOI=10.1016/j.bbrc.2017.04.067;
RA Luo M., Mengos A.E., Ma W., Finlayson J., Bustos R.Z., Xiao Zhu Y.,
RA Shi C.X., Stubblefield T.M., Willis W.T., Mandarino L.J.;
RT "Characterization of the novel protein KIAA0564 (Von Willebrand domain-
RT containing protein 8).";
RL Biochem. Biophys. Res. Commun. 487:545-551(2017).
CC -!- FUNCTION: Exhibits ATPase activity in vitro.
CC {ECO:0000269|PubMed:28414126}.
CC -!- SUBUNIT: Monomer (By similarity). Interacts with PEX7. Interacts with
CC PEX5 in a PEX7-dependent manner (By similarity).
CC {ECO:0000250|UniProtKB:A3KMH1}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:28414126}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=VWA8a {ECO:0000303|PubMed:28414126};
CC IsoId=Q8CC88-1; Sequence=Displayed;
CC Name=2; Synonyms=VWA8b {ECO:0000303|PubMed:28414126};
CC IsoId=Q8CC88-2; Sequence=VSP_034708;
CC Name=3;
CC IsoId=Q8CC88-3; Sequence=VSP_034707;
CC -!- TISSUE SPECIFICITY: Isoform 1 is predominantly expressed in liver,
CC kidney, pancreas, heart, and skeletal muscle (at protein level).
CC {ECO:0000269|PubMed:28414126}.
CC -!- INDUCTION: Up-regulated by high fat diet (at protein level).
CC {ECO:0000269|PubMed:28414126}.
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DR EMBL; AK030028; BAC26746.1; -; mRNA.
DR EMBL; AK033642; BAC28404.1; -; mRNA.
DR EMBL; AK154108; BAE32382.1; -; mRNA.
DR EMBL; AC155167; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC124709; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC139758; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC019143; AAH19143.1; -; mRNA.
DR EMBL; AK129164; BAC97974.1; -; mRNA.
DR CCDS; CCDS49550.1; -. [Q8CC88-1]
DR CCDS; CCDS88721.1; -. [Q8CC88-2]
DR RefSeq; NP_082182.1; NM_027906.1. [Q8CC88-1]
DR RefSeq; NP_776119.2; NM_173758.3. [Q8CC88-2]
DR AlphaFoldDB; Q8CC88; -.
DR BioGRID; 230127; 7.
DR IntAct; Q8CC88; 6.
DR MINT; Q8CC88; -.
DR STRING; 10090.ENSMUSP00000048925; -.
DR iPTMnet; Q8CC88; -.
DR PhosphoSitePlus; Q8CC88; -.
DR SwissPalm; Q8CC88; -.
DR EPD; Q8CC88; -.
DR jPOST; Q8CC88; -.
DR MaxQB; Q8CC88; -.
DR PaxDb; Q8CC88; -.
DR PeptideAtlas; Q8CC88; -.
DR PRIDE; Q8CC88; -.
DR ProteomicsDB; 297833; -. [Q8CC88-1]
DR ProteomicsDB; 297834; -. [Q8CC88-2]
DR ProteomicsDB; 297835; -. [Q8CC88-3]
DR Antibodypedia; 23432; 13 antibodies from 7 providers.
DR Ensembl; ENSMUST00000040990; ENSMUSP00000048925; ENSMUSG00000058997. [Q8CC88-1]
DR Ensembl; ENSMUST00000227255; ENSMUSP00000154270; ENSMUSG00000058997. [Q8CC88-2]
DR GeneID; 219189; -.
DR KEGG; mmu:219189; -.
DR UCSC; uc007usp.2; mouse. [Q8CC88-1]
DR CTD; 23078; -.
DR MGI; MGI:1919008; Vwa8.
DR VEuPathDB; HostDB:ENSMUSG00000058997; -.
DR eggNOG; KOG1808; Eukaryota.
DR GeneTree; ENSGT00390000006601; -.
DR HOGENOM; CLU_001400_0_0_1; -.
DR InParanoid; Q8CC88; -.
DR OMA; GTHIVHP; -.
DR OrthoDB; 79800at2759; -.
DR PhylomeDB; Q8CC88; -.
DR TreeFam; TF300317; -.
DR BioGRID-ORCS; 219189; 0 hits in 71 CRISPR screens.
DR ChiTaRS; Vwa8; mouse.
DR PRO; PR:Q8CC88; -.
DR Proteomes; UP000000589; Chromosome 14.
DR RNAct; Q8CC88; protein.
DR Bgee; ENSMUSG00000058997; Expressed in right kidney and 231 other tissues.
DR Genevisible; Q8CC88; MM.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0005777; C:peroxisome; ISO:MGI.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IDA:UniProtKB.
DR Gene3D; 3.40.50.300; -; 3.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR003593; AAA+_ATPase.
DR InterPro; IPR011704; ATPase_dyneun-rel_AAA.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR039891; VWA8.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR PANTHER; PTHR21610; PTHR21610; 1.
DR Pfam; PF07728; AAA_5; 3.
DR SMART; SM00382; AAA; 2.
DR SMART; SM00327; VWA; 1.
DR SUPFAM; SSF52540; SSF52540; 3.
DR SUPFAM; SSF53300; SSF53300; 1.
DR PROSITE; PS50234; VWFA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Mitochondrion; Nucleotide-binding;
KW Reference proteome; Transit peptide.
FT TRANSIT 1..45
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 46..1905
FT /note="von Willebrand factor A domain-containing protein 8"
FT /evidence="ECO:0000255"
FT /id="PRO_0000343892"
FT DOMAIN 1714..1896
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT REGION 1..260
FT /note="Interaction with PEX7"
FT /evidence="ECO:0000250|UniProtKB:A3KMH1"
FT REGION 1541..1583
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1541..1560
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 446..453
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..1560
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_034707"
FT VAR_SEQ 1039..1905
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_034708"
FT MUTAGEN 446..453
FT /note="Missing: Loss of in vitro ATPase activity."
FT /evidence="ECO:0000269|PubMed:28414126"
FT MUTAGEN 509..514
FT /note="Missing: Loss of in vitro ATPase activity."
FT /evidence="ECO:0000269|PubMed:28414126"
FT CONFLICT 294
FT /note="S -> P (in Ref. 1; BAE32382)"
FT /evidence="ECO:0000305"
FT CONFLICT 555
FT /note="K -> R (in Ref. 3; AAH19143)"
FT /evidence="ECO:0000305"
FT CONFLICT 724
FT /note="E -> K (in Ref. 3; AAH19143)"
FT /evidence="ECO:0000305"
FT CONFLICT 890
FT /note="V -> I (in Ref. 3; AAH19143)"
FT /evidence="ECO:0000305"
FT CONFLICT 1014
FT /note="I -> V (in Ref. 1; BAE32382)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1905 AA; 213421 MW; 52A4ADA5E3E64D4E CRC64;
MQSRLLLLGA PGGLGDVASR RVRLLLRQVL RGRPGGDQQR LEVRLLHSGA TDSGETVSIG
DVSYKLKTPK NPELVPQNYI SDSPAQSIVQ HLRWLMQKDL LGQDVFLIGP PGPLRRSVAM
QYLELTKREV EYIALSRDTT ETDLKQRREI RAGTAFYIDQ CAVRAATEGR TLVLEGLEKA
ERNVLPVLNN LLENREMQLE DGRFLMSAER YDKLLQDHTK EELDAWKIVR VSENFRVIAL
GLPVPRYSGN PLDPPLRSRF QARDIYFLPF QDQLKLLYSV GANVSAEKIS QLLSFATTLC
SQESSTLGLP DFPLDSLPEA VQILDSFPMM SIEHALQWVY PYTLLLGHEG KMAVEGVLKR
FELQGSGHSL LPKEIVRVER MTDSHGSYAH VTIRVAGKEV TIKVPAGTRA VNQPCAPDHF
IQTVSHKQLL AEMVQSHMVK DICLIGGKGC GKTVIAKNFA ALLGYSIEPI MLYQDMTARD
LLQQRYTLPN GDTAWRSSPL VSAAREGKLV LLDGIHRVNA GTLAVLQRLI HDRELSLYDG
SRLLREDRYL SLKEKLQLTD EQLQNRSIFP IHPSFRIIAL AEPPIVGSTT QQWLGPEFLT
MFFFHHMKPL VKSEEIQVIK ETVPNVPQEA LEKLLSVTHK LRETQDPTAQ SLAASLSTRQ
LLRISRRLSK YPSENLHDAI TKACLSRFLP SLAQSALEKN LADAAIETNT EDSLEPELEN
YKCEVVAGSL KIGAVSVPVH NAHEKMKVPD VLFYDNVQHM VVMEDMLKDF VLGEHLLLVG
NQGVGKNKIV DRFLHLLNRP REYIQLHRDT TVQSLTLQPT VKGGLIVYED SPLVKAVKLG
HILVVDEADK APTNVTCILK TLVENGEMIL ADGRRIVADA ANVDGRENLV AIHPDFRMLA
LANRPGFPFL GNDFFGTLGD IFSCHAIDNP KPHSELSMLK QYGPDVPEPV LQKLVAAFGE
LRNLADQGII NYPYSTREVV NIVKHLQKFP TEGLSSVVRN VFDFDSYNND MREILMNTLH
KYGIPIGAKP TNVQLAKEFP LPEKTFMGYW IVGQTGNGMQ KVLCPAETNH VDIKGPVLVN
MEKYPIEKHE ARFLSFTEEC TSWKFPLDEV NLICDIAVSH ENGEQTLYVA ACNPVSLYFM
NMTGKNGFFV DFFDIFPRMA SGSWRPFVTV APLGSPLRGQ VVLHEEQSNA VLLLDTTGSA
IRRLVLPTEE FTSKKSSWWS KEEGETYRMC KEFSHKNWVV FYKQTGNSLT VLDVLEGLAH
TISLPINLRT VFLVAEDKWL LVENETNQKY LLTKPAHIGS EDTGACQLYM LKEELPSTGF
GVTQETEFCI PDKVSSDQLS SENLTSAVGQ KIASPNRILS DENSHATIVV GFPDLMSPSE
VYSWKRSSSL RQPSVTSMTM YTGKRTNATP RHNNCVTLTH TNQVVRILPP GEVPLKDLYP
KDVTPPQTAG YIEVTDLQAK KLRYIPVPSA ESLSPYTAWI SAISDTDALL AEWDKSSVVT
VDMGGRVRLW ETGLERLQQS LMEWRNMIGQ DSDKHVQITI ERDSNEDVSD PKHGKEDPDN
MPHVGGNTWA GGTGGRDTAG LGGKGGPYRL DAGHPVYQVS EVEKDAVPED VKRAAREMAQ
KAFQQRLKEI QMSEYDAATY ERFSSAVQRQ VHALRIILDN LQAKGKERQW LRHQATGELD
DAKIIDGLAG EKSIYKRRGD LEPQLGSPQQ KPKRLRLVVD VSGSMYRFNG VDRRLERSME
AVCMVMEAFE NYEEKFKYDI AGHSGDGYNI KLVPVNQIPK NNKQRLEILK TMHEHSQFCM
SGDHTLEGTE HAIKDITTEE ADEYFVIILS DANLSRYGIN PARFAQILTS DPQVNAFAIF
IGSLGDQAAR LQRTLPAGRS FIAMDTKKIP QILQQIFTST MLSSI
