A2ML1

Protein-coding gene in humans

A2ML1

Identifiers

Aliases

A2ML1, CPAMD9, alpha-2-macroglobulin like 1, p170, OMS

External IDs

OMIM: 610627; HomoloGene: 67167; GeneCards: A2ML1; OMA:A2ML1 - orthologs

Gene location (Human)

Chr.	Chromosome 12 (human)^[1]

Band	12p13.31	Start	8,822,621 bp^[1]
Band	12p13.31	End	8,887,001 bp^[1]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

gums

gingival epithelium

mucosa of pharynx

oral cavity

body of tongue

human penis

skin of abdomen

skin of leg

buccal mucosa cell

vulva

n/a

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	serine-type endopeptidase inhibitor activity endopeptidase inhibitor activity peptidase inhibitor activity
Cellular component	extracellular region extracellular exosome extracellular space
Biological process	negative regulation of endopeptidase activity negative regulation of peptidase activity regulation of endopeptidase activity
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


144568


n/a

Ensembl


ENSG00000166535


n/a

UniProt


A8K2U0 H0YGG5


n/a

RefSeq (mRNA)


NM_001282424 NM_144670


n/a

RefSeq (protein)


NP_001269353 NP_653271


n/a

Location (UCSC)

Chr 12: 8.82 – 8.89 Mb

n/a

PubMed search

^[2]

n/a

Wikidata

View/Edit Human

Alpha-2-macroglobulin-like 1 abbreviated as α2ML1 is a protein that in humans is encoded by the A2ML1 gene.^[3] α2ML1 is a large, 180 kDa protein found in the epidermis. It is able to the inhibit the chymotryptic activity of KLK7.^[4]

Function

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).^[5] Alternative splicing results in multiple transcript variants.^[3]

Clinical significance

Mutations in A2ML1 are associated to Noonan-like syndrome.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000166535 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Alpha-2-macroglobulin-like 1".
^ Galliano MF, Toulza E, Gallinaro H, Jonca N, Ishida-Yamamoto A, Serre G, Guerrin M (November 2005). "A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis". J Biol Chem. 281 (9): 5780–5789. doi:10.1074/jbc.m508017200. PMID 16298998.
^ Schepens I, Jaunin F, Begre N, Läderach U, Marcus K, Hashimoto T, Favre B, Borradori L (2010). "The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human". PLOS ONE. 5 (8): e12250. Bibcode:2010PLoSO...512250S. doi:10.1371/journal.pone.0012250. PMC 2923615. PMID 20805888.
^ Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J (2014). "Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome". Eur. J. Hum. Genet. 23 (3): 317–24. doi:10.1038/ejhg.2014.115. PMC 4326711. PMID 24939586.