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A2ML1 alpha-2-macroglobulin like 1 [ Homo sapiens (human) ]

Gene ID: 144568, updated on 24-Nov-2020

Summary

Official Symbol
A2ML1provided by HGNC
Official Full Name
alpha-2-macroglobulin like 1provided by HGNC
Primary source
HGNC:HGNC:23336
See related
Ensembl:ENSG00000166535 MIM:610627
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OMS; p170; CPAMD9
Summary
This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Expression
Restricted expression toward esophagus (RPKM 190.0) See more
Orthologs

Genomic context

See A2ML1 in Genome Data Viewer
Location:
12p13.31
Exon count:
40
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (8822554..8887202)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8975150..9029381)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Fanconi anemia core complex-associated protein 24-like Neighboring gene ribosomal modification protein rimK like family member B Neighboring gene ribosomal protein SA pseudogene 51 Neighboring gene polyhomeotic homolog 1 Neighboring gene mannose-6-phosphate receptor, cation dependent Neighboring gene killer cell lectin like receptor G1 Neighboring gene VDAC2 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Otitis media, susceptibility to
MedGen: C1833692 OMIM: 166760 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16045, FLJ25179, FLJ39129, FLJ41597, FLJ41598, FLJ41607, DKFZp686C1729, DKFZp686D2011, DKFZp686G1812, DKFZp686L1821, DKFZp686O1010

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
alpha-2-macroglobulin-like protein 1
Names
C3 and PZP-like, alpha-2-macroglobulin domain containing 9

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042857.1 RefSeqGene

    Range
    5001..59312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282424.3NP_001269353.2  alpha-2-macroglobulin-like protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate AUG, and the resulting isoform (2) has a distinct and shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC006513, AC006581
    Consensus CDS
    CCDS73439.1
    Related
    ENSP00000438292.1, ENST00000539547.5
  2. NM_144670.6NP_653271.3  alpha-2-macroglobulin-like protein 1 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC006513, AC006581
    Consensus CDS
    CCDS8596.2
    Related
    ENSP00000299698.7, ENST00000299698.12
    Conserved Domains (5) summary
    cd02897
    Location:9561251
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:736826
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:122211
    A2M_N; MG2 domain
    pfam07677
    Location:13621449
    A2M_recep; A-macroglobulin receptor
    pfam07703
    Location:459601
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    8822554..8887202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520566.2XP_011518868.1  alpha-2-macroglobulin-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011518868.1

    Conserved Domains (7) summary
    COG2373
    Location:1231055
    YfaS; Uncharacterized conserved protein YfaS, alpha-2-macroglobulin family [General function prediction only]
    cd02897
    Location:9691264
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:749839
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:122211
    A2M_N; MG2 domain
    pfam07677
    Location:13751462
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:10211266
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:455613
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
  2. XM_017018868.1XP_016874357.1  alpha-2-macroglobulin-like protein 1 isoform X2

  3. XM_011520567.2XP_011518869.1  alpha-2-macroglobulin-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011518869.1

    Conserved Domains (7) summary
    COG2373
    Location:1231055
    YfaS; Uncharacterized conserved protein YfaS, alpha-2-macroglobulin family [General function prediction only]
    cd02897
    Location:9691264
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:749839
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:122211
    A2M_N; MG2 domain
    pfam07677
    Location:13751462
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:10211266
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:455613
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
  4. XM_017018869.1XP_016874358.1  alpha-2-macroglobulin-like protein 1 isoform X2

  5. XM_017018870.1XP_016874359.1  alpha-2-macroglobulin-like protein 1 isoform X3

    UniProtKB/Swiss-Prot
    A8K2U0
    Conserved Domains (5) summary
    cd02897
    Location:9561251
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:736826
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:122211
    A2M_N; MG2 domain
    pfam07677
    Location:13621449
    A2M_recep; A-macroglobulin receptor
    pfam07703
    Location:459601
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region

RNA

  1. XR_001748594.1 RNA Sequence

  2. XR_931275.1 RNA Sequence

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