MFAP3_HUMAN
ID MFAP3_HUMAN Reviewed; 362 AA.
AC P55082; B2RDK0; B4DKA1; Q9NXA7;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-1996, sequence version 1.
DT 03-AUG-2022, entry version 182.
DE RecName: Full=Microfibril-associated glycoprotein 3;
DE Flags: Precursor;
GN Name=MFAP3;
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 [GENOMIC DNA].
RC TISSUE=Fibroblast;
RX PubMed=7782085; DOI=10.1016/0888-7543(95)80081-v;
RA Abrams W.R., Ma R.-I., Kucich U., Bashir M.M., Decker S., Tsipouras P.,
RA McPherson J.D., Wasmuth J.J., Rosenbloom J.;
RT "Molecular cloning of the microfibrillar protein MFAP3 and assignment of
RT the gene to human chromosome 5q32-q33.2.";
RL Genomics 26:47-54(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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 [6]
RP VARIANT GLY-53.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- FUNCTION: Component of the elastin-associated microfibrils.
CC -!- INTERACTION:
CC P55082; Q9Y3R0-3: GRIP1; NbExp=3; IntAct=EBI-11287173, EBI-12193965;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P55082-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P55082-2; Sequence=VSP_042948;
CC -!- PTM: Glycosylated. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91108.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; L35251; AAC41753.1; -; Genomic_DNA.
DR EMBL; AK000358; BAA91108.1; ALT_FRAME; mRNA.
DR EMBL; AK296468; BAG59113.1; -; mRNA.
DR EMBL; AK315573; BAG37947.1; -; mRNA.
DR EMBL; AC008672; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC010232; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC010295; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC022088; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471062; EAW61645.1; -; Genomic_DNA.
DR EMBL; BC026244; AAH26244.1; -; mRNA.
DR CCDS; CCDS4324.1; -. [P55082-1]
DR CCDS; CCDS47319.1; -. [P55082-2]
DR PIR; A56745; A56745.
DR RefSeq; NP_001128509.1; NM_001135037.1. [P55082-2]
DR RefSeq; NP_001229265.1; NM_001242336.1. [P55082-1]
DR RefSeq; NP_005918.1; NM_005927.4. [P55082-1]
DR AlphaFoldDB; P55082; -.
DR BioGRID; 110396; 68.
DR IntAct; P55082; 35.
DR STRING; 9606.ENSP00000322956; -.
DR GlyGen; P55082; 3 sites.
DR iPTMnet; P55082; -.
DR PhosphoSitePlus; P55082; -.
DR BioMuta; MFAP3; -.
DR DMDM; 1709013; -.
DR EPD; P55082; -.
DR jPOST; P55082; -.
DR MassIVE; P55082; -.
DR MaxQB; P55082; -.
DR PaxDb; P55082; -.
DR PeptideAtlas; P55082; -.
DR PRIDE; P55082; -.
DR ProteomicsDB; 56783; -. [P55082-1]
DR ProteomicsDB; 56784; -. [P55082-2]
DR Antibodypedia; 2980; 155 antibodies from 16 providers.
DR DNASU; 4238; -.
DR Ensembl; ENST00000322602.9; ENSP00000322956.5; ENSG00000037749.13. [P55082-1]
DR Ensembl; ENST00000439768.2; ENSP00000414219.2; ENSG00000037749.13. [P55082-2]
DR Ensembl; ENST00000522782.6; ENSP00000430852.2; ENSG00000037749.13. [P55082-1]
DR GeneID; 4238; -.
DR KEGG; hsa:4238; -.
DR MANE-Select; ENST00000522782.6; ENSP00000430852.2; NM_005927.5; NP_005918.1.
DR UCSC; uc003lvf.3; human. [P55082-1]
DR CTD; 4238; -.
DR DisGeNET; 4238; -.
DR GeneCards; MFAP3; -.
DR HGNC; HGNC:7034; MFAP3.
DR HPA; ENSG00000037749; Low tissue specificity.
DR MIM; 600491; gene.
DR neXtProt; NX_P55082; -.
DR OpenTargets; ENSG00000037749; -.
DR PharmGKB; PA30770; -.
DR VEuPathDB; HostDB:ENSG00000037749; -.
DR eggNOG; ENOG502QW9J; Eukaryota.
DR GeneTree; ENSGT00390000011576; -.
DR HOGENOM; CLU_1277263_0_0_1; -.
DR InParanoid; P55082; -.
DR OMA; KPHCCLF; -.
DR OrthoDB; 1154642at2759; -.
DR PhylomeDB; P55082; -.
DR TreeFam; TF333205; -.
DR PathwayCommons; P55082; -.
DR Reactome; R-HSA-2129379; Molecules associated with elastic fibres.
DR SignaLink; P55082; -.
DR BioGRID-ORCS; 4238; 12 hits in 1071 CRISPR screens.
DR ChiTaRS; MFAP3; human.
DR GenomeRNAi; 4238; -.
DR Pharos; P55082; Tdark.
DR PRO; PR:P55082; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; P55082; protein.
DR Bgee; ENSG00000037749; Expressed in adrenal tissue and 164 other tissues.
DR ExpressionAtlas; P55082; baseline and differential.
DR Genevisible; P55082; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR InterPro; IPR013151; Immunoglobulin.
DR InterPro; IPR039696; MFAP3-like.
DR PANTHER; PTHR14340; PTHR14340; 1.
DR Pfam; PF00047; ig; 1.
DR SMART; SM00409; IG; 1.
DR SMART; SM00408; IGc2; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Membrane; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..362
FT /note="Microfibril-associated glycoprotein 3"
FT /id="PRO_0000014865"
FT TOPO_DOM 19..147
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 148..170
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 171..362
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 45..137
FT /note="Ig-like C2-type"
FT REGION 285..306
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 323..350
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 323..345
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 36
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 41
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 110
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 73..124
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 1..146
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042948"
FT VARIANT 53
FT /note="S -> G (in dbSNP:rs748271641)"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069386"
SQ SEQUENCE 362 AA; 40165 MW; B99B176F1EC78785 CRC64;
MKLHCCLFTL VASIIVPAAF VLEDVDFDQM VSLEANRSSY NASFPSSFEL SASSHSDDDV
IIAKEGTSVS IECLLTASHY EDVHWHNSKG QQLDGRSRGG KWLVSDNFLN ITNVAFDDRG
LYTCFVTSPI RASYSVTLRV IFTSGDMSVY YMIVCLIAFT ITLILNVTRL CMMSSHLRKT
EKAINEFFRT EGAEKLQKAF EIAKRIPIIT SAKTLELAKV TQFKTMEFAR YIEELARSVP
LPPLILNCRA FVEEMFEAVR VDDPDDLGER IKERPALNAQ GGIYVINPEM GRSNSPGGDS
DDGSLNEQGQ EIAVQVSVHL QSETKSIDTE SQGSSHFSPP DDIGSAESNC NYKDGAYENC
QL
