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A2ML1

GENERAL INFORMATION

Gene name

 A2ML1

Gene description

 Alpha-2-macroglobulin-like 1

Protein class

 Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (esophagus)
GTEx:Tissue enhanced (esophagus, vagina)
FANTOM5:Group enriched (cervix, uterine, esophagus, tonsil)

Protein evidence

 Evidence at protein level

Protein expression

 Selective expression in squamous epithelia.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Secreted protein, tissue location of RNA and protein might differ and correlation is complex.

Reliability score

 Supported based on 2 antibodies.
HPA038847 , HPA038848
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Esophagus

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (esophagus)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (esophagus, vagina)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cervix, uterine, esophagus, tonsil)

GENE INFORMATION

Gene name

 A2ML1 (HGNC Symbol)

Synonyms

 CPAMD9, FLJ25179

Description

 Alpha-2-macroglobulin-like 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 12

Cytoband

 p13.31

Chromosome location (bp)

 8822472 - 8887001

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000166535 (version 83.38)

Entrez gene

 144568

UniProt

 A8K2U0 (UniProt - Evidence at protein level)

neXtProt

 NX_A8K2U0

Antibodypedia

 A2ML1 antibodies

PROTEIN BROWSER
A2ML1-001
A2ML1-003
A2ML1-004
A2ML1-008
A2ML1-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
A2ML1-001
ENSP00000299698
ENST00000299698
A8K2U0 [Direct mapping]
Alpha-2-macroglobulin-like protein 1
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004866 [endopeptidase inhibitor activity]
GO:0004867 [serine-type endopeptidase inhibitor activity]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0010951 [negative regulation of endopeptidase activity]
GO:0030414 [peptidase inhibitor activity]
GO:0052548 [regulation of endopeptidase activity]
GO:0070062 [extracellular exosome]
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 1454 aa
161.1 kDa 		Yes 0
A2ML1-003
ENSP00000443174
ENST00000541459
H0YGG5 [Direct mapping]
Alpha-2-macroglobulin-like protein 1
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004866 [endopeptidase inhibitor activity]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0010951 [negative regulation of endopeptidase activity]
Show all
 1004 aa
110.6 kDa 		No 0
A2ML1-004
ENSP00000438292
ENST00000539547
A8K2U0 [Direct mapping]
Alpha-2-macroglobulin-like protein 1
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004866 [endopeptidase inhibitor activity]
GO:0004867 [serine-type endopeptidase inhibitor activity]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0010951 [negative regulation of endopeptidase activity]
GO:0030414 [peptidase inhibitor activity]
GO:0052548 [regulation of endopeptidase activity]
GO:0070062 [extracellular exosome]
Show all
 963 aa
106 kDa 		No 0
A2ML1-008
ENSP00000440662
ENST00000536789
F5GYG7 [Direct mapping]
Alpha-2-macroglobulin-like protein 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 81 aa
8.9 kDa 		No 0
A2ML1-009
ENSP00000440057
ENST00000545692
F5GXP1 [Direct mapping]
Alpha-2-macroglobulin-like protein 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 183 aa
20.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.