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Aliases for A2ML1 Gene

Aliases for A2ML1 Gene

  • Alpha-2-Macroglobulin-Like 1 2 3
  • C3 And PZP-Like, Alpha-2-Macroglobulin Domain Containing 9 2 3
  • CPAMD9 3 4
  • C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 9 4
  • Alpha-2-Macroglobulin-Like Protein 1 3

External Ids for A2ML1 Gene

Previous Symbols for A2ML1 Gene

  • CPAMD9

Summaries for A2ML1 Gene

Entrez Gene Summary for A2ML1 Gene

  • This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein acts as an inhibitor for several proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID: 20805888). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

GeneCards Summary for A2ML1 Gene

A2ML1 (Alpha-2-Macroglobulin-Like 1) is a Protein Coding gene. Diseases associated with A2ML1 include paraneoplastic pemphigus and noonan syndrome 1. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity. An important paralog of this gene is CD109.

UniProtKB/Swiss-Prot for A2ML1 Gene

  • Is able to inhibit all four classes of proteinases by a unique trapping mechanism. This protein has a peptide stretch, called the bait region which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase (By similarity). Displays inhibitory activity against chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but not trypsin. May play an important role during desquamation by inhibiting extracellular proteases.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for A2ML1 Gene

Genomics for A2ML1 Gene

Genomic Location for A2ML1 Gene

Start:
8,822,472 bp from pter
End:
8,887,001 bp from pter
Size:
64,530 bases
Orientation:
Plus strand

Genomic View for A2ML1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for A2ML1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for A2ML1 Gene

Regulatory Elements for A2ML1 Gene

Proteins for A2ML1 Gene

  • Protein details for A2ML1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8K2U0-A2ML1_HUMAN
    Recommended name:
    Alpha-2-macroglobulin-like protein 1
    Protein Accession:
    A8K2U0
    Secondary Accessions:
    • B5MDD1
    • B7Z7V4
    • D3DUV3
    • F5H2Z2
    • Q2M224
    • Q6ZW52
    • Q6ZW53
    • Q8N1M4
    • Q96LQ8

    Protein attributes for A2ML1 Gene

    Size:
    1454 amino acids
    Molecular mass:
    161107 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAB71612.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04793.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC85653.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC85654.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for A2ML1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for A2ML1 Gene

Proteomics data for A2ML1 Gene at MOPED

Post-translational modifications for A2ML1 Gene

  • Glycosylation at Asn120, Asn281, Asn409, Asn857, and Asn1020

Other Protein References for A2ML1 Gene

No data available for DME Specific Peptides for A2ML1 Gene

Domains for A2ML1 Gene

UniProtKB/Swiss-Prot:

A2ML1_HUMAN
Family:
  • Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family.:
    • A8K2U0
genes like me logo Genes that share domains with A2ML1: view

No data available for Gene Families for A2ML1 Gene

Function for A2ML1 Gene

Molecular function for A2ML1 Gene

UniProtKB/Swiss-Prot Function: Is able to inhibit all four classes of proteinases by a unique trapping mechanism. This protein has a peptide stretch, called the bait region which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase (By similarity). Displays inhibitory activity against chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but not trypsin. May play an important role during desquamation by inhibiting extracellular proteases.

Gene Ontology (GO) - Molecular Function for A2ML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity --
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IDA 16298998
genes like me logo Genes that share ontologies with A2ML1: view

Phenotypes for A2ML1 Gene

GenomeRNAi human phenotypes for A2ML1:
genes like me logo Genes that share phenotypes with A2ML1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for A2ML1 Gene

Localization for A2ML1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for A2ML1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for A2ML1 Gene COMPARTMENTS Subcellular localization image for A2ML1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for A2ML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space IDA 16298998
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with A2ML1: view

Pathways for A2ML1 Gene

SuperPathways for A2ML1 Gene

No Data Available

Interacting Proteins for A2ML1 Gene

Gene Ontology (GO) - Biological Process for A2ML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0052548 regulation of endopeptidase activity IDA 16298998
genes like me logo Genes that share ontologies with A2ML1: view

No data available for Pathways by source for A2ML1 Gene

Transcripts for A2ML1 Gene

Unigene Clusters for A2ML1 Gene

Alpha-2-macroglobulin-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for A2ML1 Gene

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:
SP6: -
SP7:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40
SP1: -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for A2ML1 Gene

GeneLoc Exon Structure for
A2ML1
ECgene alternative splicing isoforms for
A2ML1

Expression for A2ML1 Gene

mRNA expression in normal human tissues for A2ML1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for A2ML1 Gene

This gene is overexpressed in Esophagus - Mucosa (27.2), Vagina (8.8), Cervix - Ectocervix (5.3), and Minor Salivary Gland (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for A2ML1 Gene

SOURCE GeneReport for Unigene cluster for A2ML1 Gene Hs.620532

mRNA Expression by UniProt/SwissProt for A2ML1 Gene

A8K2U0-A2ML1_HUMAN
Tissue specificity: In the epidermis, expressed predominantly in the granular layer at the apical edge of keratinocytes (at protein level). Also detected in placenta, testis and thymus but not in epithelia of kidney, lung, small intestine or colon.
genes like me logo Genes that share expressions with A2ML1: view

Orthologs for A2ML1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for A2ML1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia A2ML1 36
  • 99.15 (n)
  • 99.04 (a)
A2ML1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia A2ML1 36
  • 82.83 (n)
  • 77.3 (a)
A2ML1 37
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia A2ML1 36
  • 85.88 (n)
  • 82.48 (a)
A2ML1 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC048546 37
  • 33 (a)
OneToOne
Gm7298 16
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 37 (a)
OneToMany
chicken
(Gallus gallus)
Aves A2ML1 37
  • 42 (a)
OneToOne
A2ML4 36
  • 53.88 (n)
  • 45.21 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 38 (a)
OneToMany
-- 37
  • 39 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mug1 36
  • 54.42 (n)
  • 46.7 (a)
Species with no ortholog for A2ML1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for A2ML1 Gene

ENSEMBL:
Gene Tree for A2ML1 (if available)
TreeFam:
Gene Tree for A2ML1 (if available)

Paralogs for A2ML1 Gene

Paralogs for A2ML1 Gene

Selected SIMAP similar genes for A2ML1 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for A2ML1 Gene

genes like me logo Genes that share paralogs with A2ML1: view

Variants for A2ML1 Gene

Sequence variations from dbSNP and Humsavar for A2ML1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1894814 -- 8,836,181(+) TTTAT(A/G)CCCCT intron-variant
rs1860967 -- 8,861,159(+) GTCTA(C/T)GGTGT reference, missense
rs1860927 -- 8,851,916(-) AAGAA(C/T)GGCTT synonymous-codon, reference
rs1558526 - 8,857,224(+) TGGCT(A/G)TGGCG missense, reference
rs1476910 -- 8,868,316(+) GAGCA(A/G)CCGAC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for A2ML1 Gene

Variant ID Type Subtype PubMed ID
nsv521922 CNV Loss 19592680
esv29462 CNV Loss 19812545
nsv516260 CNV Loss 19592680
nsv442254 CNV CNV 18776908
esv2603013 CNV Deletion 19546169
nsv512254 CNV Loss 21212237
dgv28e180 CNV Deletion 20482838
esv1448345 CNV Deletion 17803354
esv2661025 CNV Deletion 23128226
esv2745509 CNV Deletion 23290073
nsv53517 CNV Loss 16902084
esv2745510 CNV Deletion 23290073

Relevant External Links for A2ML1 Gene

HapMap Linkage Disequilibrium report
A2ML1

Disorders for A2ML1 Gene

Relevant External Links for A2ML1

Genetic Association Database (GAD)
A2ML1
Human Genome Epidemiology (HuGE) Navigator
A2ML1
genes like me logo Genes that share disorders with A2ML1: view

No data available for UniProtKB/Swiss-Prot for A2ML1 Gene

Publications for A2ML1 Gene

  1. A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis. (PMID: 16298998) Galliano M.-F. … Guerrin M. (J. Biol. Chem. 2006) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J. … Lambert J.C. (Mol. Psychiatry 2009) 3 49
  4. The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human. (PMID: 20805888) Schepens I. … Borradori L. (PLoS ONE 2010) 3
  5. Anti-I+-2-macroglobulin-like-1 autoantibodies are detected frequently and may be pathogenic in paraneoplastic pemphigus. (PMID: 23407400) Numata S. … Hashimoto T. (J. Invest. Dermatol. 2013) 3

Products for A2ML1 Gene

Sources for A2ML1 Gene

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