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SERPINA2 serpin family A member 2 (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 390502, updated on 11-Jun-2021

Summary

Official Symbol
SERPINA2provided by HGNC
Official Full Name
serpin family A member 2 (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:8985
See related
Ensembl:ENSG00000258597 MIM:107410
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
ATR; PIL; ARGS; psiATR; SERPINA2P
Summary
This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014]
Annotation information
Note: Population studies indicate that this gene is polymorphic. Deletions, frameshift mutations and a critical start codon mutation (ATG->ATA) have been found in some populations as well as an allele that can encode a functional protein. This gene may be an evolving pseudogene (PMID: 17135331). The reference genome contains the start codon mutation and has a coding region deletion. The NCBI RefSeq Project therefore treats this as a pseudogene. [13 Feb 2013]
Expression
Low expression observed in reference dataset See more
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Genomic context

See SERPINA2 in Genome Data Viewer
Location:
14q32.13
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (94364318..94366702, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94830655..94833039, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serpin family A member 10 Neighboring gene serpin family A member 6 Neighboring gene serpin family A member 1 Neighboring gene serpin family A member 11

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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both HIV-1 gp160 and p55 processing, and is a powerful inhibitor of HIV replication PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
putative alpha-1-antitrypsin-related protein
Names
alpha-1 antitrypsin-related protein
serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2
serpin A2
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_006220.2NP_006211.2  putative alpha-1-antitrypsin-related protein precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein coding transcript. This allele is not found in the reference genome.
    Source sequence(s)
    AC235087, DB526949, JX680599
    UniProtKB/TrEMBL
    A0A0G2JPK4, S4UD68
    Conserved Domains (1) summary
    smart00093
    Location:62418
    SERPIN; SERine Proteinase INhibitors

RNA

  1. NR_110563.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, non-coding) represents the non-protein coding transcript. The non-coding allele, found in the reference genome, contains a 2 kb deletion and a start codon mutation when compared to the protein coding allele.
    Source sequence(s)
    AL117259
    Related
    ENST00000553483.3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    94364318..94366702 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1478202..1483289 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_032041.1: Suppressed sequence

    Description
    NG_032041.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
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