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

    Gene ID: 155465, updated on 14-Nov-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
    NEW
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    Try the new Transcript table

    Genomic context

    See AGR3 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16854681..16881983, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16984265..17011519, complement)
    RS_2024_09 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 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 
    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)

    NEW Try the new Transcript table

    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_2024_08

    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