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    FAM83G family with sequence similarity 83 member G [ Homo sapiens (human) ]

    Gene ID: 644815, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM83Gprovided by HGNC
    Official Full Name
    family with sequence similarity 83 member Gprovided by HGNC
    Primary source
    HGNC:HGNC:32554
    See related
    Ensembl:ENSG00000188522 MIM:615886; AllianceGenome:HGNC:32554
    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
    PAWS1
    Summary
    Predicted to enable protein kinase binding activity. Involved in BMP signaling pathway. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in skin (RPKM 27.6), esophagus (RPKM 12.8) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM83G in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18968789..19006116, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18915280..18952622, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18872102..18908077, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phosphoribosyl pyrophosphate synthetase associated protein 2 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11846 Neighboring gene small nucleolar RNA MBII-202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18850561-18851174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18851175-18851788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18864393-18865390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18866439-18866973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18866974-18867507 Neighboring gene solute carrier family 5 member 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18871247-18872190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18874077-18875018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18883844-18884799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18884800-18885754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18885755-18886709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8282 Neighboring gene Sharpr-MPRA regulatory region 2479 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18917397-18918386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18934086-18934883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18935718-18936468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18936469-18937218 Neighboring gene GRB2 related adaptor protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18954567-18955068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18955069-18955568 Neighboring gene small nucleolar RNA, C/D box 3B-1

    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
    • 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. FAM83G Is a Novel Inducer of Apoptosis. Okada J, et al. Molecules, 2020 Jun 18. PMID 32570757, Free PMC Article
    2. The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g. Radden LA 2nd, et al. BMC Res Notes, 2013 May 9. PMID 23656696, Free PMC Article
    3. FAM83G promotes proliferation, invasion, and metastasis by regulating PI3K/AKT signaling in hepatocellular carcinoma cells. Liu C, et al. Biochem Biophys Res Commun, 2021 Aug 27. PMID 34144502
    4. PAWS1 controls Wnt signalling through association with casein kinase 1α. Bozatzi P, et al. EMBO Rep, 2018 Apr. PMID 29514862, Free PMC Article
    5. PAWS1 controls cytoskeletal dynamics and cell migration through association with the SH3 adaptor CD2AP. Cummins TD, et al. J Cell Sci, 2018 Jan 10. PMID 29175910, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM83G promotes proliferation, invasion, and metastasis by regulating PI3K/AKT signaling in hepatocellular carcinoma cells.
      Title: FAM83G promotes proliferation, invasion, and metastasis by regulating PI3K/AKT signaling in hepatocellular carcinoma cells.
    2. FAM83G Is a Novel Inducer of Apoptosis.
      Title: FAM83G Is a Novel Inducer of Apoptosis.
    3. PAWS1 interacts in a dynamic fashion with the actin/cytoskeletal regulator CD2AP at lamellae, suggesting that its association with CD2AP controls actin organization and cellular migration. Genetic ablation of CD2AP from U2OS cells instigates actin and cell migration defects reminiscent of those seen in PAWS1-knockout cells.
      Title: PAWS1 controls cytoskeletal dynamics and cell migration through association with the SH3 adaptor CD2AP.
    4. PAWS1 interacts and co-localises with the alpha isoform of casein kinase 1 (CK1), and that PAWS1 mutations incapable of binding CK1 fail both to activate Wnt signalling and to elicit axis duplication in Xenopus embryos.
      Title: PAWS1 controls Wnt signalling through association with casein kinase 1α.
    5. PAWS1 regulates the expression of some SMAD4-independent BMP target genes as well as some BMP-independent genes.
      Title: Protein associated with SMAD1 (PAWS1/FAM83G) is a substrate for type I bone morphogenetic protein receptors and modulates bone morphogenetic protein signalling.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41564

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM83G
    Names
    protein associated with SMAD1

    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_001039999.3 → NP_001035088.2  protein FAM83G

      See identical proteins and their annotated locations for NP_001035088.2

      Status: VALIDATED

      Source sequence(s)
      AC090286, BX365956, BX402942, CF138357, CN370352, CR735308, CX165458, DN831927, DY655105
      Consensus CDS
      CCDS42276.1
      UniProtKB/Swiss-Prot
      A6ND36, Q3KQZ4, Q6ZW60
      Related
      ENSP00000373647.5, ENST00000388995.11
      Conserved Domains (2) summary
      cd09187
      Location:20 → 307
      PLDc_FAM83G_N; N-terminal phospholipase D-like domain of the uncharacterized protein Family with sequence similarity 83G
      pfam13091
      Location:165 → 303
      PLDc_2; PLD-like domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      18968789..19006116 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024953.3 → XP_016880442.1  protein FAM83G isoform X1

      UniProtKB/Swiss-Prot
      A6ND36, Q3KQZ4, Q6ZW60
      Conserved Domains (2) summary
      cd09187
      Location:20 → 307
      PLDc_FAM83G_N; N-terminal phospholipase D-like domain of the uncharacterized protein Family with sequence similarity 83G
      pfam13091
      Location:165 → 303
      PLDc_2; PLD-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      18915280..18952622 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316920.1 → XP_054172895.1  protein FAM83G isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6ND36.2 GenPept UniProtKB/Swiss-Prot:A6ND36

    Gene LinkOut

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

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