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AGR3 anterior gradient 3, protein disulphide isomerase family member [ Homo sapiens (human) ]

Gene ID: 155465, updated on 3-Apr-2024

Summary

Official Symbol
AGR3provided by HGNC
Official Full Name
anterior gradient 3, protein disulphide isomerase family memberprovided by HGNC
Primary source
HGNC:HGNC:24167
See related
Ensembl:ENSG00000173467 MIM:609482; AllianceGenome:HGNC:24167
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AG3; AG-3; HAG3; hAG-3; BCMP11; PDIA18
Summary
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]
Expression
Biased expression in small intestine (RPKM 65.6), colon (RPKM 63.5) and 4 other tissues See more
Orthologs
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Genomic context

Location:
7p21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16854681..16881983, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16984265..17011519, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (16899036..16921607, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene anterior gradient 2, protein disulphide isomerase family member Neighboring gene Rho GTPase activating protein 20 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:16902535-16902704 Neighboring gene RAD17 pseudogene 1 Neighboring gene LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene Neighboring gene Sharpr-MPRA regulatory region 11479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:16982305-16982806 Neighboring gene uncharacterized LOC124901594

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

EBI GWAS Catalog

Description
Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dystroglycan binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables dystroglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
anterior gradient protein 3
Names
anterior gradient homolog 3
anterior gradient protein 3 homolog
breast cancer membrane protein 11
protein disulfide isomerase family A, member 18

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_176813.5NP_789783.1  anterior gradient protein 3 precursor

    See identical proteins and their annotated locations for NP_789783.1

    Status: VALIDATED

    Source sequence(s)
    BC058284, BU682778
    Consensus CDS
    CCDS5365.1
    UniProtKB/Swiss-Prot
    A4D120, Q8TD06
    UniProtKB/TrEMBL
    B5MC62
    Related
    ENSP00000308606.2, ENST00000310398.7
    Conserved Domains (1) summary
    cd02960
    Location:37166
    AGR; Anterior Gradient (AGR) family; members of this family are similar to secreted proteins encoded by the cement gland-specific genes XAG-1 and XAG-2, expressed in the anterior region of dorsal ectoderm of Xenopus. They are implicated in the formation of ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    16854681..16881983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515152.3XP_011513454.1  anterior gradient protein 3 isoform X2

    See identical proteins and their annotated locations for XP_011513454.1

    UniProtKB/TrEMBL
    B5MC62
    Related
    ENSP00000386016.3, ENST00000402239.7
    Conserved Domains (1) summary
    cl00388
    Location:37150
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  2. XM_047419928.1XP_047275884.1  anterior gradient protein 3 isoform X1

    UniProtKB/Swiss-Prot
    A4D120, Q8TD06

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    16984265..17011519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357364.1XP_054213339.1  anterior gradient protein 3 isoform X2

  2. XM_054357363.1XP_054213338.1  anterior gradient protein 3 isoform X1

    UniProtKB/Swiss-Prot
    A4D120, Q8TD06