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2024-04-20 18:32:51, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001879 6476 bp mRNA linear PRI 02-JUN-2013
DEFINITION Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2
activating component of Ra-reactive factor) (MASP1), transcript
variant 1, mRNA.
ACCESSION NM_001879
VERSION NM_001879.5 GI:294997266
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 6476)
AUTHORS Megyeri,M., Harmat,V., Major,B., Vegh,A., Balczer,J., Heja,D.,
Szilagyi,K., Datz,D., Pal,G., Zavodszky,P., Gal,P. and Dobo,J.
TITLE Quantitative characterization of the activation steps of
mannan-binding lectin (MBL)-associated serine proteases (MASPs)
points to the central role of MASP-1 in the initiation of the
complement lectin pathway
JOURNAL J. Biol. Chem. 288 (13), 8922-8934 (2013)
PUBMED 23386610
REMARK GeneRIF: autoactivation of MASP-1 is crucial for the activation of
MBL/ficolin.MASP complexes, and in the proenzymic phase zymogen
MASP-1 controls the process
REFERENCE 2 (bases 1 to 6476)
AUTHORS Sekine,H., Takahashi,M., Iwaki,D. and Fujita,T.
TITLE The role of MASP-1/3 in complement activation
JOURNAL Adv. Exp. Med. Biol. 735, 41-53 (2013)
PUBMED 23402018
REMARK GeneRIF: MASP-1 seems to be involved in activation of both the
lectin and alternative complement pathways--{review}
Review article
REFERENCE 3 (bases 1 to 6476)
AUTHORS Degn,S.E., Jensen,L., Hansen,A.G., Duman,D., Tekin,M.,
Jensenius,J.C. and Thiel,S.
TITLE Mannan-binding lectin-associated serine protease (MASP)-1 is
crucial for lectin pathway activation in human serum, whereas
neither MASP-1 nor MASP-3 is required for alternative pathway
function
JOURNAL J. Immunol. 189 (8), 3957-3969 (2012)
PUBMED 22966085
REMARK GeneRIF: A crucial role of MASP-1 is demonstrated in the activation
of MASP-2, as well as of MASP-3, based on a patient harboring a
nonsense mutation in the common part of the MASP1 gene.
REFERENCE 4 (bases 1 to 6476)
AUTHORS Skjoedt,M.O., Roversi,P., Hummelshoj,T., Palarasah,Y., Rosbjerg,A.,
Johnson,S., Lea,S.M. and Garred,P.
TITLE Crystal structure and functional characterization of the complement
regulator mannose-binding lectin (MBL)/ficolin-associated protein-1
(MAP-1)
JOURNAL J. Biol. Chem. 287 (39), 32913-32921 (2012)
PUBMED 22854970
REMARK GeneRIF: MAP-1 competes with all three MASPs for ligand binding and
is able to mediate a strong dose-dependent inhibitory effect on the
lectin pathway activation, as measured by levels of C3 and C9.
REFERENCE 5 (bases 1 to 6476)
AUTHORS Heja,D., Kocsis,A., Dobo,J., Szilagyi,K., Szasz,R., Zavodszky,P.,
Pal,G. and Gal,P.
TITLE Revised mechanism of complement lectin-pathway activation revealing
the role of serine protease MASP-1 as the exclusive activator of
MASP-2
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 109 (26), 10498-10503 (2012)
PUBMED 22691502
REMARK GeneRIF: MASP-1 activates MASP-2 and, moreover, inhibition of
MASP-1 prevents autoactivation of MASP-2
REFERENCE 6 (bases 1 to 6476)
AUTHORS Endo,M., Ohi,H., Ohsawa,I., Fujita,T., Matsushita,M. and Fujita,T.
TITLE Glomerular deposition of mannose-binding lectin (MBL) indicates a
novel mechanism of complement activation in IgA nephropathy
JOURNAL Nephrol. Dial. Transplant. 13 (8), 1984-1990 (1998)
PUBMED 9719152
REFERENCE 7 (bases 1 to 6476)
AUTHORS Endo,Y., Sato,T., Matsushita,M. and Fujita,T.
TITLE Exon structure of the gene encoding the human mannose-binding
protein-associated serine protease light chain: comparison with
complement C1r and C1s genes
JOURNAL Int. Immunol. 8 (9), 1355-1358 (1996)
PUBMED 8921412
REFERENCE 8 (bases 1 to 6476)
AUTHORS Takada,F., Seki,N., Matsuda,Y., Takayama,Y. and Kawakami,M.
TITLE Localization of the genes for the 100-kDa complement-activating
components of Ra-reactive factor (CRARF and Crarf) to human
3q27-q28 and mouse 16B2-B3
JOURNAL Genomics 25 (3), 757-759 (1995)
PUBMED 7759119
REFERENCE 9 (bases 1 to 6476)
AUTHORS Sato,T., Endo,Y., Matsushita,M. and Fujita,T.
TITLE Molecular characterization of a novel serine protease involved in
activation of the complement system by mannose-binding protein
JOURNAL Int. Immunol. 6 (4), 665-669 (1994)
PUBMED 8018603
REFERENCE 10 (bases 1 to 6476)
AUTHORS Takada,F., Takayama,Y., Hatsuse,H. and Kawakami,M.
TITLE A new member of the C1s family of complement proteins found in a
bactericidal factor, Ra-reactive factor, in human serum
JOURNAL Biochem. Biophys. Res. Commun. 196 (2), 1003-1009 (1993)
PUBMED 8240317
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC423174.1, D28593.1 and
AC007920.18.
This sequence is a reference standard in the RefSeqGene project.
On Apr 22, 2010 this sequence version replaced gi:73623023.
Summary: This gene encodes a serine protease that functions as a
component of the lectin pathway of complement activation. The
complement pathway plays an essential role in the innate and
adaptive immune response. The encoded protein is synthesized as a
zymogen and is activated when it complexes with the pathogen
recognition molecules of lectin pathway, the mannose-binding lectin
and the ficolins. This protein is not directly involved in
complement activation but may play a role as an amplifier of
complement activation by cleaving complement C2 or by activating
another complement serine protease, MASP-2. The encoded protein is
also able to cleave fibrinogen and factor XIII and may may be
involved in coagulation. A splice variant of this gene which lacks
the serine protease domain functions as an inhibitor of the
complement pathway. Alternate splicing results in multiple
transcript variants.[provided by RefSeq, Apr 2010].
Transcript Variant: This variant (1) represents the longest
transcript and encodes isoform 1. This isoform (1) is referred to
as MASP1 in the literature.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025081, ERS025082
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-340 DC423174.1 1-340
341-1092 D28593.1 41-792
1093-1093 AC007920.18 105151-105151
1094-1243 D28593.1 794-943
1244-1244 AC007920.18 108650-108650
1245-1885 D28593.1 945-1585
1886-1886 AC007920.18 135390-135390
1887-2646 D28593.1 1587-2346
2647-6476 AC007920.18 141942-145771
FEATURES Location/Qualifiers
source 1..6476
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q27-q28"
gene 1..6476
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="mannan-binding lectin serine peptidase 1 (C4/C2
activating component of Ra-reactive factor)"
/db_xref="GeneID:5648"
/db_xref="HGNC:6901"
/db_xref="HPRD:02749"
/db_xref="MIM:600521"
exon 1..395
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
misc_feature 58..60
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="upstream in-frame stop codon"
variation 325
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:72549255"
CDS 391..2490
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/EC_number="3.4.21.-"
/note="isoform 1 precursor is encoded by transcript
variant 1; Ra-reactive factor serine protease p100;
mannan-binding lectin serine protease 1; serine protease
5; complement factor MASP-3; mannose-binding
protein-associated serine protease; mannose-binding
lectin-associated serine protease 1; complement-activating
component of Ra-reactive factor"
/codon_start=1
/product="mannan-binding lectin serine protease 1 isoform
1 precursor"
/protein_id="NP_001870.3"
/db_xref="GI:21264357"
/db_xref="CCDS:CCDS33907.1"
/db_xref="GeneID:5648"
/db_xref="HGNC:6901"
/db_xref="HPRD:02749"
/db_xref="MIM:600521"
/translation="
MRWLLLYYALCFSLSKASAHTVELNNMFGQIQSPGYPDSYPSDSEVTWNITVPDGFRIKLYFMHFNLESSYLCEYDYVKVETEDQVLATFCGRETTDTEQTPGQEVVLSPGSFMSITFRSDFSNEERFTGFDAHYMAVDVDECKEREDEELSCDHYCHNYIGGYYCSCRFGYILHTDNRTCRVECSDNLFTQRTGVITSPDFPNPYPKSSECLYTIELEEGFMVNLQFEDIFDIEDHPEVPCPYDYIKIKVGPKVLGPFCGEKAPEPISTQSHSVLILFHSDNSGENRGWRLSYRAAGNECPELQPPVHGKIEPSQAKYFFKDQVLVSCDTGYKVLKDNVEMDTFQIECLKDGTWSNKIPTCKIVDCRAPGELEHGLITFSTRNNLTTYKSEIKYSCQEPYYKMLNNNTGIYTCSAQGVWMNKVLGRSLPTCLPVCGLPKFSRKLMARIFNGRPAQKGTTPWIAMLSHLNGQPFCGGSLLGSSWIVTAAHCLHQSLDPEDPTLRDSDLLSPSDFKIILGKHWRLRSDENEQHLGVKHTTLHPQYDPNTFENDVALVELLESPVLNAFVMPICLPEGPQQEGAMVIVSGWGKQFLQRFPETLMEIEIPIVDHSTCQKAYAPLKKKVTRDMICAGEKEGGKDACAGDSGGPMVTLNRERGQWYLVGTVSWGDDCGKKDRYGVYSYIHHNKDWIQRVTGVRN
"
sig_peptide 391..447
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 448..1734
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/product="mannan-binding lectin serine protease 1 heavy
chain isoform 1"
misc_feature 448..1224
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P48740.3);
Region: Interaction with FCN2"
misc_feature 448..942
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P48740.3);
Region: Homodimerization (By similarity)"
misc_feature 448..942
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P48740.3);
Region: Interaction with MBL2"
misc_feature 463..801
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="CUB domain; extracellular domain; present in
proteins mostly known to be involved in development; not
found in prokaryotes, plants and yeast; Region: CUB;
cd00041"
/db_xref="CDD:28922"
misc_feature order(472..474,478..480,484..486,565..567,580..582,
706..708,784..786,790..792,796..801)
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="heterodimerization interface [polypeptide binding];
other site"
/db_xref="CDD:28922"
misc_feature 805..918
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(805..807,814..816,865..867)
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 943..1278
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="CUB domain; extracellular domain; present in
proteins mostly known to be involved in development; not
found in prokaryotes, plants and yeast; Region: CUB;
cd00041"
/db_xref="CDD:28922"
misc_feature order(970..972,976..978,982..984,1063..1065,1078..1080,
1189..1191,1261..1263,1267..1269,1273..1278)
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="heterodimerization interface [polypeptide binding];
other site"
/db_xref="CDD:28922"
misc_feature 1291..1479
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="Complement control protein (CCP) modules (aka short
consensus repeats SCRs or SUSHI repeats) have been
identified in several proteins of the complement system;
Region: CCP; cd00033"
/db_xref="CDD:153056"
misc_feature order(1321..1323,1378..1380)
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="receptor-ligand interactions; other site"
/db_xref="CDD:153056"
misc_feature 1489..1686
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="Complement control protein (CCP) modules (aka short
consensus repeats SCRs or SUSHI repeats) have been
identified in several proteins of the complement system;
Region: CCP; cd00033"
/db_xref="CDD:153056"
misc_feature order(1519..1521,1585..1587)
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="receptor-ligand interactions; other site"
/db_xref="CDD:153056"
misc_feature 1732..1737
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/experiment="experimental evidence, no additional details
recorded"
/note="Cleavage, by autolysis; propagated from
UniProtKB/Swiss-Prot (P48740.3); cleavage site"
mat_peptide 1735..2487
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/product="mannan-binding lectin serine protease 1 light
chain isoform 1"
misc_feature 1735..2472
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="Trypsin-like serine protease; Many of these are
synthesized as inactive precursor zymogens that are
cleaved during limited proteolysis to generate their
active forms. Alignment contains also inactive enzymes
that have substitutions of the catalytic triad...; Region:
Tryp_SPc; cd00190"
/db_xref="CDD:29152"
misc_feature 1735..1737
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="cleavage site"
/db_xref="CDD:29152"
misc_feature order(1858..1860,2044..2046,2326..2328)
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="active site"
/db_xref="CDD:29152"
misc_feature order(2308..2310,2389..2391,2395..2397)
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="substrate binding sites [chemical binding]; other
site"
/db_xref="CDD:29152"
exon 396..627
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 450
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549248"
variation 452
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:1062049"
exon 628..805
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
exon 806..937
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 807
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549252"
variation 856
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:200376787"
exon 938..1134
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 1027
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:28945069"
variation 1093
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="g"
/db_xref="dbSNP:3203210"
variation 1121
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:28945071"
exon 1135..1282
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
exon 1283..1401
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
exon 1402..1480
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
exon 1481..1618
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 1515
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:34207306"
exon 1619..1693
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 1667
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:28945068"
exon 1694..1831
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 1815
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549158"
exon 1832..1945
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 1918
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:28945070"
exon 1946..2131
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 1963
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:28945073"
variation 2034
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="t"
/db_xref="dbSNP:28945072"
variation 2037
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549170"
exon 2132..2199
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
exon 2200..2299
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
exon 2300..6476
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 2319
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:35472527"
STS 2626..2815
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="STS-D17525"
/db_xref="UniSTS:47674"
STS 2632..2967
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="SHGC-144506"
/db_xref="UniSTS:174259"
variation 2723
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="g"
/replace="t"
/db_xref="dbSNP:3203213"
variation 2728
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="g"
/replace="t"
/db_xref="dbSNP:3203214"
variation 2781
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:17040"
variation 2828
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="g"
/db_xref="dbSNP:1139134"
variation 2920
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549163"
variation 3073
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:3864096"
STS 3138..3253
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="WI-9292"
/db_xref="UniSTS:71339"
variation 3149
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="c"
/db_xref="dbSNP:3852053"
variation 3245
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72550736"
STS 3323..3542
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="G15960"
/db_xref="UniSTS:7221"
variation 3480
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:3206230"
variation 3636
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:72550737"
variation 3668..3669
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549151"
variation 3669
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:72549150"
STS 3760..4541
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="MASP1_V208"
/db_xref="UniSTS:280841"
variation 3992
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:3206231"
variation 4192
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:3206232"
variation 4248
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:72549265"
variation 4424
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549264"
STS 4974..5221
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="RH75422"
/db_xref="UniSTS:88054"
STS 5067..5137
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="D3S3485E"
/db_xref="UniSTS:154074"
STS 5073..5202
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="RH93986"
/db_xref="UniSTS:87294"
STS 6258..6364
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/standard_name="SHGC-77643"
/db_xref="UniSTS:57206"
polyA_signal 6455..6460
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
polyA_site 6476
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
ORIGIN
acacacagagtgatacaaatacctgcttgagcccctcagttattttctctcaagggctgaagtcagccacacaggataaaggagggaagggaaggagcagatcttttcggtaggaagacagattttgttgtcaggttcctgggagtgcaagagcaagtcaaaggagagagagaggagagaggaaaagccagagggagagagggggagaggggatctgttgcaggcaggggaaggcgtgacctgaatggagaatgccagccaattccagagacacacagggacctcagaacaaagataaggcatcacggacaccacaccgggcacgagctcacaggcaagtcaagctgggaggaccaaggccgggcagccgggagcacccaaggcaggaaaatgaggtggctgcttctctattatgctctgtgcttctccctgtcaaaggcttcagcccacaccgtggagctaaacaatatgtttggccagatccagtcgcctggttatccagactcctatcccagtgattcagaggtgacttggaatatcactgtcccagatgggtttcggatcaagctttacttcatgcacttcaacttggaatcctcctacctttgtgaatatgactatgtgaaggtagaaactgaggaccaggtgctggcaaccttctgtggcagggagaccacagacacagagcagactcccggccaggaggtggtcctctcccctggctccttcatgtccatcactttccggtcagatttctccaatgaggagcgtttcacaggctttgatgcccactacatggctgtggatgtggacgagtgcaaggagagggaggacgaggagctgtcctgtgaccactactgccacaactacattggcggctactactgctcctgccgcttcggctacatcctccacacagacaacaggacctgccgagtggagtgcagtgacaacctcttcactcaaaggactggggtgatcaccagccctgacttcccaaacccttaccccaagagctctgaatgcctgtataccatcgagctggaggagggtttcatggtcaacctgcagtttgaggacatatttgacattgaggaccatcctgaggtgccctgcccctatgactacatcaagatcaaagttggtccaaaagttttggggcctttctgtggagagaaagccccagaacccatcagcacccagagccacagtgtcctgatcctgttccatagtgacaactcgggagagaaccggggctggaggctctcatacagggctgcaggaaatgagtgcccagagctacagcctcctgtccatgggaaaatcgagccctcccaagccaagtatttcttcaaagaccaagtgctcgtcagctgtgacacaggctacaaagtgctgaaggataatgtggagatggacacattccagattgagtgtctgaaggatgggacgtggagtaacaagattcccacctgtaaaattgtagactgtagagccccaggagagctggaacacgggctgatcaccttctctacaaggaacaacctcaccacatacaagtctgagatcaaatactcctgtcaggagccctattacaagatgctcaacaataacacaggtatatatacctgttctgcccaaggagtctggatgaataaagtattggggagaagcctacccacctgccttccagtgtgtgggctccccaagttctcccggaagctgatggccaggatcttcaatggacgcccagcccagaaaggcaccactccctggattgccatgctgtcacacctgaatgggcagcccttctgcggaggctcccttctaggctccagctggatcgtgaccgccgcacactgcctccaccagtcactcgatccggaagatccgaccctacgtgattcagacttgctcagcccttctgacttcaaaatcatcctgggcaagcattggaggctccggtcagatgaaaatgaacagcatctcggcgtcaaacacaccactctccacccccagtatgatcccaacacattcgagaatgacgtggctctggtggagctgttggagagcccagtgctgaatgccttcgtgatgcccatctgtctgcctgagggaccccagcaggaaggagccatggtcatcgtcagcggctgggggaagcagttcttgcaaaggttcccagagaccctgatggagattgaaatcccgattgttgaccacagcacctgccagaaggcttatgccccgctgaagaagaaagtgaccagggacatgatctgtgctggggagaaggaagggggaaaggacgcctgtgcgggtgactctggaggccccatggtgaccctgaatagagaaagaggccagtggtacctggtgggcactgtgtcctggggtgatgactgtgggaagaaggaccgctacggagtatactcttacatccaccacaacaaggactggatccagagggtcaccggagtgaggaactgaatttggctcctcagccccagcaccaccagctgtgggcagtcagtagcagaggacgatcctccgatgaaagcagccatttctcctttccttcctcccatcccccctccttcggcctatccattactgggcaatagagcaggtatcttcacccccttttcactctctttaaagagatggagcaagagagtggtcagaacacaggccgaatccaggctctatcacttactagtttgcagtgctgggcaggtgacttcatctcttcgaacttcagtttcttcataagatggaaatgctataccttacctacctcgtaaaagtctgatgaggaaaagattaactaatagatgcatagcacttaacagagtgcatagcatacactgttttcaataaatgcaccttagcagaaggtcgatgtgtctaccaggcagacgaagctctcttacaaacccctgcctgggtcttagcattgatcagtgacacacctctcccctcaaccttgaccatctccatctgcccttaaatgctgtatgcttttttgccaccgtgcaacttgcccaacatcaatcttcaccctcatccctaaaaaagtaaaacagacaaggttctgagtcctgtggtatgtcccctagcaaatgtaactaggaacatgcactagatgacagattgcgggagggcctgagagaagcagggacaggagggagcctggggattgtggtttgggaaggcagacacctggttctagaactagctctgcccttagccccctgtatgaccctatgcaagtcctcctccctcatctcaaagggtcctcaaagctctgacgatctaagatacaatgaagccattttccccctgataagatgaggtaaagccaatgtaaccaaaaggcaaaaattacaatcggttcaaaggaactttgatgcagacaaaatgctgctgctgctgctcctgaaatacccacccctttccactacgggtgggttcccaaggacatgggacaggcaaagtgtgagccaaaggatccttccttattcctaagcagagcatctgctctgggccctggcctccttcccttcttgggaaactgggctgcatgaggtgggccctggtagtttgtaccccaggcccctatactcttccttcctatgtccacagctgaccccaagcagccgttccccgactcctcacccctgagcctcaccctgaactccctcatcttgcaaggccataagtgttttccaagcaaaatgcctctcccatcctctctcaggaagcttctagagactttatgccctccagagctccaagatataagccctccaagggatcagaagctccaagttcctgtcttctgttttatagaaattgatcttccctgggggactttaactcttgacctgtatgcagctgttggagtaattccaggtctcttgaaaaaaaagaggaagataatggagaatgagaacatatatatatatatattaagccccaggctgaatactcagggacagcaattcacagcctgcctctggttctataaacaagtcattctacctctttgtgccctgctgtttattctgtaaggggaaggtggcaatgggacccagctccatcagacacttgtcaagctagcagaaactccattttcaatgccaaagaagaactgtaatgctgttttggaatcatcccaaggcatcccaagacaccatatcttcccatttcaagcactgcctgggcacaccccaacatcccaggctgtggtggctcctgtgggaactacctagatgaagagagtatcatttataccttctaggagctcctattgggagacatgaaacatatgtaattgactaccatgtaatagaacaaaccctgccaagtgctgctttggaaagtcatggaggtaaaagaaagaccattctggtatgaaggttttgggggaggagatatcaatcaagaaggcttcccagaagaggtgactggaccagagccttgtccacaggtaagacggaggaggccttccacatggagggagaacaatagtaaatgtccactcaagatgtcctttattataccagctcctcccacaaaaacacatgtccagtggactctttttctgggatcagaaccaacaccaaaaagagcttttctccttaaagttagaattctaaacaggacttgaaatggcctcaaggtttgtgcacaaatactgacttctggctggacccagcttattctgtttatttctccaattgcaatttcatccttatcctgagaaaatgtctaaataggccatggaacccaggcttccccgtgacctacaagcacttattagctgtgccagctcctgcactgctgctaaggtccaagaaacccagatctctcacagagccatagaagcagagggctggagtatctgtgaggacaacaaccttgtctaacttcgcgacctcattcttgagcatttctactgatgagaaactcactacccccaattgcagctcattcaactttaaaattgctgctttttgaatcactgattgtgaatattaatttaaaaaaataagtaagaaaatgttttaaatgtgctgcctctttaaaaggtctcctctttgtgcaaccaaaacccacctctctagaatacagtttgtataactgaagctataatttcataccatgagtgctgctgttagcaataataatcatgcccggattttattaacaacagaagctgttgctcgtatgaaaaaacaaacattagttctaataaacatctgcattgagtcaaagctccctgtttgtttgtatgtcttttatgcactgatgattatagtgagttgctttcatttaccaacattttgttgtattcgtgtaggatcactgtaccatgaagggagagagactatgatgggaagattgttgtagatacaaaagcatgtcttaggtttttgggtcagttctgtttaaatacctgtcctattattcctgtaaattatcaaaatatcccagaatgtcaatgtttctgcatccacattacaattattaaatgccactcatttattaaatttactattatcagtggcatttaataaatttgaatcatatgttcagtgtttggtttagaaaatatggtgccatgtctatgagtggcctgttctggattggagtacatgccttctttctgccttgagttaatcttactcaatggagaacaagaatcaaagaaacaccaccaccaagaagcccttcaagctagagttgggcaagagtcagggaggggaatgtagaccactcatatgacagaggtggaaaccaatcttggtctagaataagtctcaaaatcaaaagacttgaattctagtgcagcgtaggttgactcccttatttatttaattttcccatctctacaccgctagaataacctctctcctgaggctgttgaatctgatgaattagcagataggaaagaacttagaaaattataagttcactcaaatgtaaaaggttatatgggaaataatcaccactaacatttttgagtacttactatctgcttgttatacacattctctaatttaattttcacaagaaaattcatgaaaggactatacttatcccccttttacaggtgagcaacctggagtgcagtgaagtgtaaaatgtgggccgacttaggagcacaaataccccagcaacaatgagcactcttagtacacaggtcttggtttctaaaatatcatcatccgataaaaggaacacaggctctttgaagaaatgactgattccgggattggggcaagaaacacacaagctgagactggagcatcttgcagtcccagaaagtgaagaaacgctgaggatatgtcaaagggacacaggagccaaatgaaagagcttccactggccaaagctggaatgttgagcaacaaagcaacatagcattggataataacccaaagtataaaataaatattcatgagtacata
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5648 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: IDA
GeneID:5648 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IDA
GeneID:5648 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5648 -> Molecular function: GO:0008233 [peptidase activity] evidence: IDA
GeneID:5648 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IPI
GeneID:5648 -> Molecular function: GO:0048306 [calcium-dependent protein binding] evidence: IPI
GeneID:5648 -> Biological process: GO:0001867 [complement activation, lectin pathway] evidence: IMP
GeneID:5648 -> Biological process: GO:0001867 [complement activation, lectin pathway] evidence: TAS
GeneID:5648 -> Biological process: GO:0006508 [proteolysis] evidence: IEA
GeneID:5648 -> Biological process: GO:0006956 [complement activation] evidence: TAS
GeneID:5648 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:5648 -> Biological process: GO:0045916 [negative regulation of complement activation] evidence: IDA
GeneID:5648 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:5648 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001870 -> EC 3.4.21.-
by
@meso_cacase at
DBCLS
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