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    FAM83A family with sequence similarity 83 member A [ Homo sapiens (human) ]

    Gene ID: 84985, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM83Aprovided by HGNC
    Official Full Name
    family with sequence similarity 83 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:28210
    See related
    Ensembl:ENSG00000147689 AllianceGenome:HGNC:28210
    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
    BJ-TSA-9
    Summary
    Enables identical protein binding activity; phosphatidylinositol 3-kinase regulatory subunit binding activity; and protein kinase binding activity. Involved in cell population proliferation and epidermal growth factor receptor signaling pathway. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in esophagus (RPKM 21.0), skin (RPKM 1.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM83A in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123179047..123210079)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124310090..124341215)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124191287..124222319)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 31 Neighboring gene high mobility group box 1 pseudogene 19 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:124160865-124162064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19494 Neighboring gene tRNA-Met (anticodon CAT) 1-1 Neighboring gene Sharpr-MPRA regulatory region 4427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124186535-124187034 Neighboring gene small nucleolar RNA U3 Neighboring gene FAM83A antisense RNA 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:124209501-124210245 Neighboring gene FAM83A antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:124219477-124220229 Neighboring gene ZHX1-C8orf76 readthrough Neighboring gene microRNA 4663 Neighboring gene chromosome 8 open reading frame 76 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. FAM83A has a pro-tumor function in ovarian cancer by affecting the Akt/Wnt/β-catenin pathway. Zhao J, et al. Environ Toxicol, 2022 Apr. PMID 34931434
    2. FAM83A exerts tumor‑suppressive roles in cervical cancer by regulating integrins. Xu J, et al. Int J Oncol, 2020 Aug. PMID 32626940, Free PMC Article
    3. FAM83A Is a Prognosis Signature and Potential Oncogene of Lung Adenocarcinoma. Yu J, et al. DNA Cell Biol, 2020 May. PMID 32282228
    4. FAM83A is amplified and promotes tumorigenicity in non-small cell lung cancer via ERK and PI3K/Akt/mTOR pathways. Hu H, et al. Int J Med Sci, 2020. PMID 32218702, Free PMC Article
    5. Family with sequence similarity 83 member A promotes tumor cell proliferation and metastasis and predicts poor prognosis in cervical cancer. Liu T, et al. Pathol Res Pract, 2021 Jun. PMID 33962175

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Promotion of stem cell-like phenotype of lung adenocarcinoma by FAM83A via stabilization of ErbB2.
      Title: Promotion of stem cell-like phenotype of lung adenocarcinoma by FAM83A via stabilization of ErbB2.
    2. Sense and anti-sense: Role of FAM83A and FAM83A-AS1 in Wnt, EGFR, PI3K, EMT pathways and tumor progression.
      Title: Sense and anti-sense: Role of FAM83A and FAM83A-AS1 in Wnt, EGFR, PI3K, EMT pathways and tumor progression.
    3. High-risk histological subtype-related FAM83A hijacked FOXM1 transcriptional regulation to promote malignant progression in lung adenocarcinoma.
      Title: High-risk histological subtype-related FAM83A hijacked FOXM1 transcriptional regulation to promote malignant progression in lung adenocarcinoma.
    4. ncRNA-mediated upregulation of FAM83A is associated with poor prognosis and immune infiltration in pancreatic cancer.
      Title: ncRNA-mediated upregulation of FAM83A is associated with poor prognosis and immune infiltration in pancreatic cancer.
    5. B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with beta-catenin.
      Title: B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with β-catenin.
    6. Long non-coding RNA FEZF1-AS1 promotes rectal cancer progression by competitively binding miR-632 with FAM83A.
      Title: Long non-coding RNA FEZF1-AS1 promotes rectal cancer progression by competitively binding miR-632 with FAM83A.
    7. LncRNA FAM83A-AS1 facilitates tumor proliferation and the migration via the HIF-1alpha/ glycolysis axis in lung adenocarcinoma.
      Title: LncRNA FAM83A-AS1 facilitates tumor proliferation and the migration via the HIF-1α/ glycolysis axis in lung adenocarcinoma.
    8. FAM83A has a pro-tumor function in ovarian cancer by affecting the Akt/Wnt/beta-catenin pathway.
      Title: FAM83A has a pro-tumor function in ovarian cancer by affecting the Akt/Wnt/β-catenin pathway.
    9. Signatures of Multi-Omics Reveal Distinct Tumor Immune Microenvironment Contributing to Immunotherapy in Lung Adenocarcinoma.
      Title: Signatures of Multi-Omics Reveal Distinct Tumor Immune Microenvironment Contributing to Immunotherapy in Lung Adenocarcinoma.
    10. LncRNA FAM83A-AS1 promotes lung adenocarcinoma progression by enhancing the pre-mRNA stability of FAM83A.
      Title: LncRNA FAM83A-AS1 promotes lung adenocarcinoma progression by enhancing the pre-mRNA stability of FAM83A.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC14128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatidylinositol 3-kinase regulatory subunit binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM83A
    Names
    tumor antigen BJ-TSA-9
    tumor-specific gene expressed in prostate protein

    NCBI Reference Sequences (RefSeq)

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    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_001288587.3 → NP_001275516.1  protein FAM83A isoform c

      See identical proteins and their annotated locations for NP_001275516.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and uses an alternate 3' exon structure, compared to variant 1. It encodes isoform c, which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AK095301, BC007828, BC052300, BX101053
      Consensus CDS
      CCDS75784.1
      UniProtKB/Swiss-Prot
      Q86UY5
      Related
      ENSP00000427979.1, ENST00000522648.5
      Conserved Domains (1) summary
      cl15239
      Location:24 → 242
      PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

    2. NM_001321630.2 → NP_001308559.1  protein FAM83A isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and contains an alternate 3' terminal exon, thereby differing in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AA838226, AC068228, AK095301
      Conserved Domains (1) summary
      cl15239
      Location:24 → 257
      PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

    3. NM_001394396.1 → NP_001381325.1  protein FAM83A isoform a

      Status: VALIDATED

      Source sequence(s)
      AC068228
      Consensus CDS
      CCDS6340.1
      UniProtKB/Swiss-Prot
      Q71HL2, Q86UY5, Q8N7I1, Q96I47
      Related
      ENSP00000509471.1, ENST00000690554.1
      Conserved Domains (1) summary
      cd09181
      Location:24 → 298
      PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A

    4. NM_032899.6 → NP_116288.2  protein FAM83A isoform a

      See identical proteins and their annotated locations for NP_116288.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC068228, BX101053, DA454025, DA764899, DQ280323
      Consensus CDS
      CCDS6340.1
      UniProtKB/Swiss-Prot
      Q71HL2, Q86UY5, Q8N7I1, Q96I47
      Related
      ENSP00000428876.1, ENST00000518448.5
      Conserved Domains (1) summary
      cd09181
      Location:24 → 298
      PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A

    5. NM_207006.3 → NP_996889.1  protein FAM83A isoform b

      See identical proteins and their annotated locations for NP_996889.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' exon structure resulting in different 3' UTR and 3' coding regions, compared to variant 1. It encodes isoform b, which has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC068228, AF497803, AI677966, AK095301, DA764899
      Consensus CDS
      CCDS6339.1
      UniProtKB/Swiss-Prot
      Q86UY5
      Related
      ENSP00000445218.1, ENST00000536633.2
      Conserved Domains (1) summary
      cd09181
      Location:24 → 298
      PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      123179047..123210079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251087.4 → XP_005251144.1  protein FAM83A isoform X1

      Conserved Domains (1) summary
      cl15239
      Location:24 → 242
      PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

    2. XM_011517338.3 → XP_011515640.1  protein FAM83A isoform X2

      Conserved Domains (1) summary
      cl15239
      Location:24 → 257
      PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      124310090..124341215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361382.1 → XP_054217357.1  protein FAM83A isoform X4

    2. XM_054361379.1 → XP_054217354.1  protein FAM83A isoform X3

      UniProtKB/Swiss-Prot
      Q71HL2, Q86UY5, Q8N7I1, Q96I47

    3. XM_054361381.1 → XP_054217356.1  protein FAM83A isoform X4

    4. XM_054361380.1 → XP_054217355.1  protein FAM83A isoform X1

    5. XM_054361383.1 → XP_054217358.1  protein FAM83A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UY5.1 GenPept UniProtKB/Swiss-Prot:Q86UY5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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