ID MFAP4_HUMAN Reviewed; 255 AA. AC P55083; A8KAJ1; Q6P680; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1997, sequence version 2. DT 13-OCT-2009, entry version 74. DE RecName: Full=Microfibril-associated glycoprotein 4; DE Flags: Precursor; GN Name=MFAP4; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Placenta; RX MEDLINE=95359962; PubMed=7633408; DOI=10.1093/hmg/4.4.589; RA Zhao Z., Lee C.-C., Jiralerspong S., Juyal R.C., Lu F., Baldini A., RA Greenberg F., Caskey C.T., Patel P.I.; RT "The gene for a human microfibril-associated glycoprotein is commonly RT deleted in Smith-Magenis syndrome patients."; RL Hum. Mol. Genet. 4:589-597(1995). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Uterus; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=PNS; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP PROTEIN SEQUENCE OF 22-36. RX PubMed=15340161; DOI=10.1110/ps.04682504; RA Zhang Z., Henzel W.J.; RT "Signal peptide prediction based on analysis of experimentally RT verified cleavage sites."; RL Protein Sci. 13:2819-2824(2004). RN [6] RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-137, AND MASS RP SPECTROMETRY. RC TISSUE=Plasma; RX PubMed=16335952; DOI=10.1021/pr0502065; RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., RA Moore R.J., Smith R.D.; RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, RT hydrazide chemistry, and mass spectrometry."; RL J. Proteome Res. 4:2070-2080(2005). RN [7] RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-87 AND ASN-137, AND MASS RP SPECTROMETRY. RC TISSUE=Liver; RX PubMed=19159218; DOI=10.1021/pr8008012; RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.; RT "Glycoproteomics analysis of human liver tissue by combination of RT multiple enzyme digestion and hydrazide chemistry."; RL J. Proteome Res. 8:651-661(2009). CC -!- FUNCTION: Could be involved in calcium-dependent cell adhesion or CC intercellular interactions. CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular CC matrix. CC -!- DISEASE: MFAP4 is deleted in the Smith-Magenis syndrome (SMS) CC [MIM:182290]. CC -!- SIMILARITY: Contains 1 fibrinogen C-terminal domain. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; L38486; AAB00968.1; ALT_INIT; mRNA. DR EMBL; AK293056; BAF85745.1; -; mRNA. DR EMBL; CH471212; EAW50889.1; -; Genomic_DNA. DR EMBL; BC062415; AAH62415.1; -; mRNA. DR IPI; IPI00022792; -. DR RefSeq; NP_002395.1; -. DR UniGene; Hs.296049; -. DR HSSP; P02671; 1FZD. DR STRING; P55083; -. DR PRIDE; P55083; -. DR Ensembl; ENST00000299610; ENSP00000299610; ENSG00000166482; Homo sapiens. DR Ensembl; ENST00000395592; ENSP00000378957; ENSG00000166482; Homo sapiens. DR GeneID; 4239; -. DR KEGG; hsa:4239; -. DR UCSC; uc002gvt.1; human. DR CTD; 4239; -. DR GeneCards; GC17M019227; -. DR H-InvDB; HIX0039181; -. DR HGNC; HGNC:7035; MFAP4. DR MIM; 182290; phenotype. DR MIM; 600596; gene. DR Orphanet; 819; Smith-Magenis syndrome. DR PharmGKB; PA30771; -. DR HOGENOM; P55083; -. DR HOVERGEN; P55083; -. DR NextBio; 16715; -. DR ArrayExpress; P55083; -. DR Bgee; P55083; -. DR CleanEx; HS_MFAP4; -. DR Genevestigator; P55083; -. DR GermOnline; ENSG00000166482; Homo sapiens. DR GO; GO:0001527; C:microfibril; NAS:UniProtKB. DR GO; GO:0005509; F:calcium ion binding; IEA:UniProtKB-KW. DR GO; GO:0005102; F:receptor binding; IEA:InterPro. DR GO; GO:0007155; P:cell adhesion; NAS:UniProtKB. DR GO; GO:0007165; P:signal transduction; IEA:InterPro. DR InterPro; IPR002181; Fibrinogen_a/b/g_C. DR InterPro; IPR014716; Fibrinogen_a/b/g_C_1. DR Gene3D; G3DSA:3.90.215.10; Fibrinogen_a/b/g_C_1; 1. DR Pfam; PF00147; Fibrinogen_C; 1. DR SMART; SM00186; FBG; 1. DR PROSITE; PS00514; FIBRINOGEN_C_1; FALSE_NEG. DR PROSITE; PS51406; FIBRINOGEN_C_2; 1. PE 1: Evidence at protein level; KW Calcium; Cell adhesion; Complete proteome; Direct protein sequencing; KW Extracellular matrix; Glycoprotein; Secreted; Signal. FT SIGNAL 1 21 FT CHAIN 22 255 Microfibril-associated glycoprotein 4. FT /FTId=PRO_0000009134. FT DOMAIN 32 255 Fibrinogen C-terminal. FT MOTIF 26 28 Cell attachment site (Potential). FT CARBOHYD 87 87 N-linked (GlcNAc...). FT CARBOHYD 137 137 N-linked (GlcNAc...). FT CONFLICT 173 173 A -> V (in Ref. 4; AAH62415). SQ SEQUENCE 255 AA; 28648 MW; B8F0B47AC694435E CRC64; MKALLALPLL LLLSTPPCAP QVSGIRGDAL ERFCLQQPLD CDDIYAQGYQ SDGVYLIYPS GPSVPVPVFC DMTTEGGKWT VFQKRFNGSV SFFRGWNDYK LGFGRADGEY WLGLQNMHLL TLKQKYELRV DLEDFENNTA YAKYADFSIS PNAVSAEEDG YTLFVAGFED GGAGDSLSYH SGQKFSTFDR DQDLFVQNCA ALSSGAFWFR SCHFANLNGF YLGGSHLSYA NGINWAQWKG FYYSLKRTEM KIRRA //