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von Willebrand factor A domain-containing protein 2 (A domain-containing protein similar to matrilin and collagen) (AMACO) (Colon cancer secreted protein 2) (CCSP-2)

 VWA2_HUMAN              Reviewed;         755 AA.
Q5GFL6; A1A5D4; B5MDJ8; Q6ZS39; Q6ZWJ7; Q708C5; Q70UZ8;
23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
01-MAR-2005, sequence version 1.
30-AUG-2017, entry version 113.
RecName: Full=von Willebrand factor A domain-containing protein 2;
AltName: Full=A domain-containing protein similar to matrilin and collagen;
Short=AMACO;
AltName: Full=Colon cancer secreted protein 2;
Short=CCSP-2;
Flags: Precursor;
Name=VWA2; Synonyms=AMACO;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT THR-9.
TISSUE=Placenta;
PubMed=14506275; DOI=10.1074/jbc.M307794200;
Sengle G., Kobbe B., Moergelin M., Paulsson M., Wagener R.;
"Identification and characterization of AMACO, a new member of the von
Willebrand factor A-like domain protein superfamily with a regulated
expression in the kidney.";
J. Biol. Chem. 278:50240-50249(2003).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE
SPECIFICITY, PROTEOLYTIC PROCESSING, AND IDENTIFICATION BY MASS
SPECTROMETRY.
PubMed=15580307; DOI=10.1038/sj.onc.1208134;
Xin B., Platzer P., Fink S.P., Reese L., Nosrati A., Willson J.K.V.,
Wilson K., Markowitz S.;
"Colon cancer secreted protein-2 (CCSP-2), a novel candidate
serological marker of colon neoplasia.";
Oncogene 24:724-731(2005).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS THR-9
AND GLY-131.
TISSUE=Brain, and Tongue;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164054; DOI=10.1038/nature02462;
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
VARIANT [LARGE SCALE ANALYSIS] ARG-137.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
-!- SUBUNIT: Forms monomers and multimers. {ECO:0000250}.
-!- INTERACTION:
Q12933:TRAF2; NbExp=3; IntAct=EBI-10243723, EBI-355744;
-!- SUBCELLULAR LOCATION: Secreted.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q5GFL6-1; Sequence=Displayed;
Name=2;
IsoId=Q5GFL6-2; Sequence=VSP_028739;
Name=3;
IsoId=Q5GFL6-3; Sequence=VSP_028737, VSP_028738, VSP_028739;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expression is generally absent in normal colon
and other normal body tissues, but it is induced an average of 78-
fold in Stage II, III, and IV colon cancers, as well as in colon
adenomas and colon cancer cell lines.
{ECO:0000269|PubMed:15580307}.
-!- PTM: A 55 kDa form is produced by proteolytic cleavage.
{ECO:0000269|PubMed:15580307}.
-!- MISCELLANEOUS: May be used as a serological marker for colon
neoplasia.
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EMBL; AJ616914; CAE83814.1; -; mRNA.
EMBL; AJ536328; CAD60276.1; -; mRNA.
EMBL; AY572972; AAT77225.1; -; mRNA.
EMBL; AY572973; AAT77226.1; -; Genomic_DNA.
EMBL; AK122716; BAC85505.1; -; mRNA.
EMBL; AK127756; BAC87116.1; -; mRNA.
EMBL; AC005383; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC022023; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC128588; AAI28589.1; -; mRNA.
CCDS; CCDS7589.2; -. [Q5GFL6-1]
RefSeq; NP_001258975.1; NM_001272046.1. [Q5GFL6-1]
RefSeq; NP_001307733.1; NM_001320804.1. [Q5GFL6-1]
RefSeq; XP_011538059.1; XM_011539757.2. [Q5GFL6-1]
UniGene; Hs.197741; -.
ProteinModelPortal; Q5GFL6; -.
SMR; Q5GFL6; -.
BioGrid; 131091; 10.
IntAct; Q5GFL6; 2.
STRING; 9606.ENSP00000298715; -.
iPTMnet; Q5GFL6; -.
PhosphoSitePlus; Q5GFL6; -.
DMDM; 74722595; -.
PaxDb; Q5GFL6; -.
PeptideAtlas; Q5GFL6; -.
PRIDE; Q5GFL6; -.
Ensembl; ENST00000392982; ENSP00000376708; ENSG00000165816. [Q5GFL6-1]
Ensembl; ENST00000603594; ENSP00000473752; ENSG00000165816. [Q5GFL6-3]
GeneID; 340706; -.
KEGG; hsa:340706; -.
UCSC; uc001lbl.3; human. [Q5GFL6-1]
CTD; 340706; -.
DisGeNET; 340706; -.
GeneCards; VWA2; -.
HGNC; HGNC:24709; VWA2.
HPA; HPA037847; -.
neXtProt; NX_Q5GFL6; -.
OpenTargets; ENSG00000165816; -.
PharmGKB; PA142670613; -.
eggNOG; KOG3544; Eukaryota.
eggNOG; ENOG410XNMM; LUCA.
GeneTree; ENSGT00760000119000; -.
HOVERGEN; HBG055835; -.
InParanoid; Q5GFL6; -.
OMA; FYSWKRV; -.
OrthoDB; EOG091G02CV; -.
PhylomeDB; Q5GFL6; -.
TreeFam; TF318242; -.
GeneWiki; VWA2; -.
GenomeRNAi; 340706; -.
PRO; PR:Q5GFL6; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000165816; -.
CleanEx; HS_VWA2; -.
GO; GO:0005604; C:basement membrane; IEA:Ensembl.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0042802; F:identical protein binding; IDA:UniProtKB.
GO; GO:0007161; P:calcium-independent cell-matrix adhesion; IEA:Ensembl.
GO; GO:0051260; P:protein homooligomerization; IDA:UniProtKB.
GO; GO:0046626; P:regulation of insulin receptor signaling pathway; IMP:UniProtKB.
Gene3D; 3.40.50.410; -; 3.
InterPro; IPR001881; EGF-like_Ca-bd_dom.
InterPro; IPR013032; EGF-like_CS.
InterPro; IPR000742; EGF-like_dom.
InterPro; IPR030755; VWA2.
InterPro; IPR002035; VWF_A.
PANTHER; PTHR11132:SF219; PTHR11132:SF219; 1.
Pfam; PF00008; EGF; 2.
Pfam; PF00092; VWA; 3.
SMART; SM00181; EGF; 2.
SMART; SM00179; EGF_CA; 2.
SMART; SM00327; VWA; 3.
SUPFAM; SSF53300; SSF53300; 3.
PROSITE; PS00022; EGF_1; 1.
PROSITE; PS01186; EGF_2; 1.
PROSITE; PS50026; EGF_3; 2.
PROSITE; PS50234; VWFA; 3.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Disulfide bond;
EGF-like domain; Glycoprotein; Polymorphism; Reference proteome;
Repeat; Secreted; Signal.
SIGNAL 1 23 {ECO:0000255}.
CHAIN 24 755 von Willebrand factor A domain-containing
protein 2.
/FTId=PRO_0000307362.
DOMAIN 51 222 VWFA 1. {ECO:0000255|PROSITE-
ProRule:PRU00219}.
DOMAIN 296 333 EGF-like 1. {ECO:0000255|PROSITE-
ProRule:PRU00076}.
DOMAIN 343 517 VWFA 2. {ECO:0000255|PROSITE-
ProRule:PRU00219}.
DOMAIN 531 705 VWFA 3. {ECO:0000255|PROSITE-
ProRule:PRU00219}.
DOMAIN 712 748 EGF-like 2. {ECO:0000255|PROSITE-
ProRule:PRU00076}.
SITE 267 268 Cleavage.
CARBOHYD 147 147 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 299 310 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 304 320 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 322 332 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 716 727 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 721 736 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 738 747 {ECO:0000255|PROSITE-ProRule:PRU00076}.
VAR_SEQ 1 304 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_028737.
VAR_SEQ 305 332 QNGGTCVPEGLDGYQCLCPLAFGGEANC -> MEAHVFQKD
WTATSASARWPLEGRLTVV (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_028738.
VAR_SEQ 708 755 EAKQPVNLCKPSPCMNEGSCVLQNGSYRCKCRDGWEGPHCE
NRFLRRP -> GEWGNPHPQGCPHGRPSA (in isoform
2 and isoform 3).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_028739.
VARIANT 9 9 A -> T (in dbSNP:rs9664945).
{ECO:0000269|PubMed:14506275,
ECO:0000269|PubMed:14702039}.
/FTId=VAR_035418.
VARIANT 131 131 E -> G (in dbSNP:rs597371).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_035419.
VARIANT 137 137 L -> R (in a colorectal cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036641.
CONFLICT 76 76 T -> A (in Ref. 3; BAC87116).
{ECO:0000305}.
CONFLICT 428 428 Q -> R (in Ref. 1; CAD60276).
{ECO:0000305}.
SEQUENCE 755 AA; 82012 MW; E02B99335BE28BEC CRC64;
MPPFLLLEAV CVFLFSRVPP SLPLQEVHVS KETIGKISAA SKMMWCSAAV DIMFLLDGSN
SVGKGSFERS KHFAITVCDG LDISPERVRV GAFQFSSTPH LEFPLDSFST QQEVKARIKR
MVFKGGRTET ELALKYLLHR GLPGGRNASV PQILIIVTDG KSQGDVALPS KQLKERGVTV
FAVGVRFPRW EELHALASEP RGQHVLLAEQ VEDATNGLFS TLSSSAICSS ATPDCRVEAH
PCEHRTLEMV REFAGNAPCW RGSRRTLAVL AAHCPFYSWK RVFLTHPATC YRTTCPGPCD
SQPCQNGGTC VPEGLDGYQC LCPLAFGGEA NCALKLSLEC RVDLLFLLDS SAGTTLDGFL
RAKVFVKRFV RAVLSEDSRA RVGVATYSRE LLVAVPVGEY QDVPDLVWSL DGIPFRGGPT
LTGSALRQAA ERGFGSATRT GQDRPRRVVV LLTESHSEDE VAGPARHARA RELLLLGVGS
EAVRAELEEI TGSPKHVMVY SDPQDLFNQI PELQGKLCSR QRPGCRTQAL DLVFMLDTSA
SVGPENFAQM QSFVRSCALQ FEVNPDVTQV GLVVYGSQVQ TAFGLDTKPT RAAMLRAISQ
APYLGGVGSA GTALLHIYDK VMTVQRGARP GVPKAVVVLT GGRGAEDAAV PAQKLRNNGI
SVLVVGVGPV LSEGLRRLAG PRDSLIHVAA YADLRYHQDV LIEWLCGEAK QPVNLCKPSP
CMNEGSCVLQ NGSYRCKCRD GWEGPHCENR FLRRP


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