Home |
Help |
Advanced search
2024-04-24 19:20:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_139125 4184 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 2, mRNA.
ACCESSION NM_139125
VERSION NM_139125.3 GI:294997264
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 4184)
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 4184)
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 4184)
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 4184)
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 4184)
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 4184)
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 4184)
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 4184)
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 4184)
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 4184)
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, AK291157.1,
AC007920.18, AF284421.1 and AI278088.1.
This sequence is a reference standard in the RefSeqGene project.
On Apr 22, 2010 this sequence version replaced gi:73623024.
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 (2) differs in the 3' UTR and 3'
coding region, compared to variant 1. The encoded isoform (2) is
longer and has a distinct C-terminus, compared to isoform 1. This
isoform (2) is referred to as MASP3 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##
Transcript exon combination :: AF284421.1, AK291157.1 [ECO:0000332]
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
1-164 DC423174.1 1-164
165-1564 AK291157.1 1-1400
1565-1565 AC007920.18 118319-118319
1566-1724 AK291157.1 1402-1560
1725-4177 AF284421.1 1425-3877
4178-4184 AI278088.1 1-7 c
FEATURES Location/Qualifiers
source 1..4184
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q27-q28"
gene 1..4184
/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..2577
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/EC_number="3.4.21.-"
/note="isoform 2 precursor is encoded by transcript
variant 2; 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
2 precursor"
/protein_id="NP_624302.1"
/db_xref="GI:21264359"
/db_xref="CCDS:CCDS33908.1"
/db_xref="GeneID:5648"
/db_xref="HGNC:6901"
/db_xref="HPRD:02749"
/db_xref="MIM:600521"
/translation="
MRWLLLYYALCFSLSKASAHTVELNNMFGQIQSPGYPDSYPSDSEVTWNITVPDGFRIKLYFMHFNLESSYLCEYDYVKVETEDQVLATFCGRETTDTEQTPGQEVVLSPGSFMSITFRSDFSNEERFTGFDAHYMAVDVDECKEREDEELSCDHYCHNYIGGYYCSCRFGYILHTDNRTCRVECSDNLFTQRTGVITSPDFPNPYPKSSECLYTIELEEGFMVNLQFEDIFDIEDHPEVPCPYDYIKIKVGPKVLGPFCGEKAPEPISTQSHSVLILFHSDNSGENRGWRLSYRAAGNECPELQPPVHGKIEPSQAKYFFKDQVLVSCDTGYKVLKDNVEMDTFQIECLKDGTWSNKIPTCKIVDCRAPGELEHGLITFSTRNNLTTYKSEIKYSCQEPYYKMLNNNTGIYTCSAQGVWMNKVLGRSLPTCLPECGQPSRSLPSLVKRIIGGRNAEPGLFPWQALIVVEDTSRVPNDKWFGSGALLSASWILTAAHVLRSQRRDTTVIPVSKEHVTVYLGLHDVRDKSGAVNSSAARVVLHPDFNIQNYNHDIALVQLQEPVPLGPHVMPVCLPRLEPEGPAPHMLGLVAGWGISNPNVTVDEIISSGTRTLSDVLQYVKLPVVPHAECKTSYESRSGNYSVTENMFCAGYYEGGKDTCLGDSGGAFVIFDDLSQRWVVQGLVSWGGPEECGSKQVYGVYTKVSNYVDWVWEQMGLPQSVVEPQVER
"
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..1725
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/product="mannan-binding lectin serine protease 1 heavy
chain isoform 2"
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"
mat_peptide 1726..2574
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/product="mannan-binding lectin serine protease 1 light
chain isoform 2"
misc_feature 1738..2523
/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 1738..1740
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="cleavage site"
/db_xref="CDD:29152"
misc_feature order(1879..1881,2047..2049,2380..2382)
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/note="active site"
/db_xref="CDD:29152"
misc_feature order(2362..2364,2443..2445,2449..2451)
/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..4179
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/inference="alignment:Splign:1.39.8"
variation 1764
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:710452"
variation 1776
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:35384947"
variation 2074
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="g"
/db_xref="dbSNP:72549155"
variation 2117
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="g"
/replace="t"
/db_xref="dbSNP:72549154"
variation 2241
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:850312"
variation 2268
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="t"
/db_xref="dbSNP:710458"
variation 2286
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:710457"
variation 2310
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:710456"
variation 2823
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="g"
/db_xref="dbSNP:850313"
variation 2900
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549263"
variation 3135
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="g"
/db_xref="dbSNP:72549262"
variation 3144
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549261"
variation 3211
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549260"
variation 3461
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:1109452"
variation 3480
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="g"
/db_xref="dbSNP:72549168"
variation 3551
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="g"
/replace="t"
/db_xref="dbSNP:1317971"
variation 3674
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="g"
/db_xref="dbSNP:72549167"
variation 3765
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="t"
/db_xref="dbSNP:72549166"
variation 3827
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="t"
/db_xref="dbSNP:72549175"
variation 4022
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="t"
/db_xref="dbSNP:72549174"
variation 4078
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="c"
/replace="g"
/db_xref="dbSNP:72549173"
variation 4101
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
/replace="a"
/replace="c"
/db_xref="dbSNP:2679547"
polyA_signal 4155..4160
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
polyA_site 4179
/gene="MASP1"
/gene_synonym="3MC1; CRARF; CRARF1; MAP1; MAp44; MASP;
MASP3; PRSS5; RaRF"
ORIGIN
acacacagagtgatacaaatacctgcttgagcccctcagttattttctctcaagggctgaagtcagccacacaggataaaggagggaagggaaggagcagatcttttcggtaggaagacagattttgttgtcaggttcctgggagtgcaagagcaagtcaaaggagagagagaggagagaggaaaagccagagggagagagggggagaggggatctgttgcaggcaggggaaggcgtgacctgaatggagaatgccagccaattccagagacacacagggacctcagaacaaagataaggcatcacggacaccacaccgggcacgagctcacaggcaagtcaagctgggaggaccaaggccgggcagccgggagcacccaaggcaggaaaatgaggtggctgcttctctattatgctctgtgcttctccctgtcaaaggcttcagcccacaccgtggagctaaacaatatgtttggccagatccagtcgcctggttatccagactcctatcccagtgattcagaggtgacttggaatatcactgtcccagatgggtttcggatcaagctttacttcatgcacttcaacttggaatcctcctacctttgtgaatatgactatgtgaaggtagaaactgaggaccaggtgctggcaaccttctgtggcagggagaccacagacacagagcagactcccggccaggaggtggtcctctcccctggctccttcatgtccatcactttccggtcagatttctccaatgaggagcgtttcacaggctttgatgcccactacatggctgtggatgtggacgagtgcaaggagagggaggacgaggagctgtcctgtgaccactactgccacaactacattggcggctactactgctcctgccgcttcggctacatcctccacacagacaacaggacctgccgagtggagtgcagtgacaacctcttcactcaaaggactggggtgatcaccagccctgacttcccaaacccttaccccaagagctctgaatgcctgtataccatcgagctggaggagggtttcatggtcaacctgcagtttgaggacatatttgacattgaggaccatcctgaggtgccctgcccctatgactacatcaagatcaaagttggtccaaaagttttggggcctttctgtggagagaaagccccagaacccatcagcacccagagccacagtgtcctgatcctgttccatagtgacaactcgggagagaaccggggctggaggctctcatacagggctgcaggaaatgagtgcccagagctacagcctcctgtccatgggaaaatcgagccctcccaagccaagtatttcttcaaagaccaagtgctcgtcagctgtgacacaggctacaaagtgctgaaggataatgtggagatggacacattccagattgagtgtctgaaggatgggacgtggagtaacaagattcccacctgtaaaattgtagactgtagagccccaggagagctggaacacgggctgatcaccttctctacaaggaacaacctcaccacatacaagtctgagatcaaatactcctgtcaggagccctattacaagatgctcaacaataacacaggtatatatacctgttctgcccaaggagtctggatgaataaagtattggggagaagcctacccacctgccttccagagtgtggtcagccctcccgctccctgccaagcctggtcaagaggatcattgggggccgaaatgctgagcctggcctcttcccgtggcaggccctgatagtggtggaggacacttcgagagtgccaaatgacaagtggtttgggagtggggccctgctctctgcgtcctggatcctcacagcagctcatgtgctgcgctcccagcgtagagacaccacggtgataccagtctccaaggagcatgtcaccgtctacctgggcttgcatgatgtgcgagacaaatcgggggcagtcaacagctcagctgcccgagtggtgctccacccagacttcaacatccaaaactacaaccacgatatagctctggtgcagctgcaggagcctgtgcccctgggaccccacgttatgcctgtctgcctgccaaggcttgagcctgaaggcccggccccccacatgctgggcctggtggccggctggggcatctccaatcccaatgtgacagtggatgagatcatcagcagtggcacacggaccttgtcagatgtcctgcagtatgtcaagttacccgtggtgcctcacgctgagtgcaaaactagctatgagtcccgctcgggcaattacagcgtcacggagaacatgttctgtgctggctactacgagggcggcaaagacacgtgccttggagatagcggtggggcctttgtcatctttgatgacttgagccagcgctgggtggtgcaaggcctggtgtcctgggggggacctgaagaatgcggcagcaagcaggtctatggagtctacacaaaggtctccaattacgtggactgggtgtgggagcagatgggcttaccacaaagtgttgtggagccccaggtggaacggtgagctgacttacttcctcggggcctgcctcccctgagcgaagctacaccgcacttccgacagcacactccacattacttatcagaccatatggaatggaacacactgacctagcggtggcttctcctaccgagacagcccccaggaccctgagaggcagagtgtggtatagggaaaaggctccaggcaggagacctgtgttcctgagcttgtccaagtctctttccctgtctgggcctcactctaccgagtaatacaatgcaggagctcaaccaaggcctctgtgccaatcccagcactcctttccaggccatgcttcttaccccagtggcctttattcactcctgaccacttatcaaacccatcggtcctactgttggtataactgagcttggacctgactattagaaaatggtttctaacattgaactgaatgccgcatctgtatattttcctgctctgccttctgggactagccttggcctaatccttcctctaggagaagagcattcaggttttgggagatggctcatagccaagcccctctctcttagtgtgatcccttggagcaccttcatgcctggggtttctctcccaaaagcttcttgcagtctaagccttatcccttatgttccccattaaaggaatttcaaaagacatggagaaagttgggaaggtttgtgctgactgctgggagcagaatagccgtgggaggcccaccaagcccttaaattcccattgtcaactcagaacacatttgggcccatatgccaccctggaacaccagctgacaccatgggcgtccacacctgctgctccagacaagcacaaagcaatctttcagccttgaaatgtattatctgaaaggctacctgaagcccaggcccgaatatggggacttagtcgattacctggaaaaagaaaagacccacactgtgtcctgctgtgcttttgggcaggaaaatggaagaaagagtggggtgggcacattagaagtcacccaaatcctgccaggctgcctggcatccctggggcatgagctgggcggagaatccaccccgcaggatgttcagagggacccactccttcatttttcagagtcaaaggaatcagaggctcacccatggcaggcagtgaaaagagccaggagtcctgggttctagtccctgctctgcccccaactggctgtataacctttgaaaaatcattttctttgtctgagtctctggttctccgtcagcaacaggctggcataaggtcccctgcaggttccttctagctggagcactcagagcttccctgactgctagcagcctctctggccctcacagggctgattgttctccttctccctggagctctctctcctgaaaatctccatcagagcaaggcagccagagaagcccctgagagggaatgattgggaagtgtccactttctcaaccggctcatcaaacacactcctttgtctatgaatggcacatgtaaatgatgttatattttgtatcttttatatcatatgcttcaccattctgtaaagggcctctgcattgttgctcccatcaggggtctcaagtggaaataaaccctcgtggataaccaacaaaaaa
//
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_624302 -> EC 3.4.21.-
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.