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Aliases & Descriptions for A2ML1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CPAMD9 2 , 3 DKFZp686C1729 2 DKFZp686D2011 2 DKFZp686G1812 2 DKFZp686L1821 2 DKFZp686O1010 2 FLJ16045 2 FLJ25179 1 , 2 FLJ39129 2 FLJ41597 2 FLJ41598 2 FLJ41607 2 OTTHUMP00000158614 2
Descriptions C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9 3 C3 and PZP-like, alpha-2-macroglobulin domain containing 9 1 , 2 alpha-2-macroglobulin-like 1 2
Search outside databases for aliases for A2ML1 gene
Summaries for A2ML1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for A2ML1 : The alpha-macroglobulin (AM) superfamily of proteins contains both complement components andprotease inhibitors, including A2M (MIM 103950) and A2ML1. AM proteins display a unique trapmechanism of inhibition, by which the AM inhibitor undergoes a major conformational change uponits cleavage by a protease, thus trapping the protease and blocking it from subsequent substratebinding (Galliano et al., 2006 [PubMed 16298998]).[supplied by OMIM] UniProtKB/Swiss-Prot: A2ML1_HUMAN, A8K2U0 Function : Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. Thisprotein has a peptide stretch, called the 'bait region' which contains specific cleavage sites fordifferent proteinases. When a proteinase cleaves the bait region, a conformational change isinduced in the protein which traps the proteinase. The entrapped enzyme remains active against lowmolecular weight substrates (activity against high molecular weight substrates is greatlyreduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates thecovalent binding of the protein to the proteinase (By similarity). Displays inhibitory activityagainst chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but nottrypsin. May play an important role during desquamation by inhibiting extracellular proteases
Genomic Location for A2ML1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 12p13.31 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p13 A2ML1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12P008867:
(about GC identifiers )
Start:
8,866,417 bp from pter
End:
8,920,646 bp from pter
Size:
54,230 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000012.10 NT_009714.16 Proteins for A2ML1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: A2ML1_HUMAN, A8K2U0 (See
protein sequence )Recommended Name: Alpha-2-macroglobulin-like protein 1 precursor Size : 1454 amino acids; 161104 Da
Subunit : Monomer
Subcellular location : Secreted
Developmental stage : Up-regulated during keratinocyte differentiation
Secondary accessions : Q2M224 Q6ZW52 Q6ZW53 Q8N1M4 Q96LQ8
REFSEQ proteins: NP_653271.2 ENSEMBL proteins: ENSP00000299698 ENSP00000382304 ENSP00000311179 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for A2ML1: Assays for A2ML1:
Protein
Domains/ Families for A2ML1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry A8K2U0 ProtoNet protein and cluster: A8K2U0
UniProtKB/Swiss-Prot: A2ML1_HUMAN, A8K2U0 Similarity : Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family
Gene Function for A2ML1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
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siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_144670 Applied Biosystems Silencer ® siRNAs for A2ML1 Sigma-Aldrich siRNA for A2ML1 Sigma-Aldrich shRNA for A2ML1 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_144670                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_144670                                  untagged cDNA clone in CMV expression vector: NM_144670  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_144670 UniProtKB/Swiss-Prot: A2ML1_HUMAN, A8K2U0 Function : Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. Thisprotein has a peptide stretch, called the 'bait region' which contains specific cleavage sites fordifferent proteinases. When a proteinase cleaves the bait region, a conformational change isinduced in the protein which traps the proteinase. The entrapped enzyme remains active against lowmolecular weight substrates (activity against high molecular weight substrates is greatlyreduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates thecovalent binding of the protein to the proteinase (By similarity). Displays inhibitory activityagainst chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but nottrypsin. May play an important role during desquamation by inhibiting extracellular proteases
2 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0004867 serine-type endopeptidase inhibitor activity
IEA -- GO:0005515 protein binding
IEA --
About this table
Pathways & Interactions for A2ML1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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--1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0052548 regulation of endopeptidase activity
IDA 16298998
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Drugs & Compounds for A2ML1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for A2ML1
Transcripts for A2ML1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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shRNA from
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_144670 Sigma-Aldrich siRNA for A2ML1 Sigma-Aldrich shRNA for A2ML1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_144670
REFSEQ mRNAs for A2ML1 gene: NM_144670.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_144670
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_144670                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_144670                                  untagged cDNA clone in CMV expression vector: NM_144670  
Additional cDNA sequence: AK057908.1 AK096448.1 AK123591.1 AK123592.1 AK123601.1 AK290355.1 AK302555.1 AL832139.1 AL832750.1 AL833479.1 BC093840.1 BC112131.1 BX647674.1 BX648231.1
6 DOTS entries : DT.421412 DT.97822102 DT.95220277 DT.101981889 DT.121190124 DT.91979364
24/46 AceView cDNA sequences (see all 46
):NM_144670 AK057908 AK096448 AK123592 BX504185 BX647674 BU101570 BX648231 AL700698 AK123601 AK123591 AK122624 AL832139 BU101571 AW862460 AW860672 BE151370 BX504184 AA316097 AL833479 AL832750 BF354179 AA307331 BE144308
highest scoring ESTs for A2ML1 :AK057908 AK096448 AK123601 AL832139 AL833479 BC093840 BF350613 BF827869 BG680886 BX647674
Unigene Cluster for A2ML1: Alpha-2-macroglobulin-like 1 Hs.620532 [show with all ESTs ] Unigene Representative Sequence: AL832139 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for A2ML1 (see all 7
) ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ SP1 :                             -                         SP2 :                             -                         SP3 :                                                     SP4 :                                                     SP5 :                                                    
ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 SP1 :                             -     SP2 :                                 SP3 :                             -     SP4 :                                 SP5 :                                
About this scheme ECgene alternative splicing isoforms for A2ML1 3 Ensembl transcripts including schematic representations : ENST00000299698
ENST00000399370
ENST00000311537
Expression for A2ML1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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A2ML1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for A2ML1 1 / 2 / 3
2 probe-sets matching A2ML1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTAAAACCCGSOURCE GeneReport for Unigene cluster: Hs.620532 UniProtKB/Swiss-Prot: A2ML1_HUMAN, A8K2U0 Tissue specificity : In the epidermis, expressed predominantly in the granular layer at the apicaledge of keratinocytes (at protein level). Also detected in placenta, testis and thymus but not inepithelia of kidney, lung, small intestine or colon
Orthologs for A2ML1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for A2ML1 gene from 4 species
About this table Species with no ortholog for A2ML1 ENSEMBL Gene Tree for A2ML1 Paralogs for A2ML1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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--
SNPs/Variants for A2ML1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for A2ML1 (up to first 250kb)
Disorders & Mutations for A2ML1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 610627 Human Genome Epidemiology Navigator: A2ML1 (1 document)
Medical News for A2ML1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for A2ML1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10 PubMed articles for A2ML1 gene :
Search for A2ML1
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing A2ML1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing A2ML1
(According to HUGE )
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Specialized Databases showing A2ML1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for A2ML1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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