Endoplasmic Reticulum Aminopeptidase 1

Alternative Names

ERAP1
Adipocyte-Derived Leucine Aminopeptidase
ALAP
Aminopeptidase Regulator of TNFR1 Shedding 1
ARTS1
Puromycin-Insensitive Leucyl-Specific Aminopeptidase
PILSAP
Endoplasmic Reticulum Aminopeptidase Associated With Antigen Processing
ERAAP
KIAA0525

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Length

175,711 bases

No. of Exons

No. of isoforms

Protein Name

Endoplasmic reticulum aminopeptidase 1

Molecular Mass

107235 Da

Amino Acid Count

941

Genomic Location

chr5:96,760,272-96,935,982

Gene Map Locus

5q15

Description

The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_016442.4:c.1378G>C	Lebanon	NC_000005.10:g.96790586C>G		Uncertain Significance	Familial Mediterranean Fever	NG_027839.2:g.150398G>C; NM_016442.4:c.1378G>C; NP_057526.3:p.Gly460Arg	771994807

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External Links

https://medlineplus.gov/genetics/gene/erap1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=erap1

Contributors

Sayeeda Hana: 13.02.2021

Edit History

Sayeeda Hana: 13.02.2021