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

    Gene ID: 644815, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in skin (RPKM 27.6), esophagus (RPKM 12.8) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    protein FAM83G
    Names
    protein associated with SMAD1

    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_001039999.3NP_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:20307
      PLDc_FAM83G_N; N-terminal phospholipase D-like domain of the uncharacterized protein Family with sequence similarity 83G
      pfam13091
      Location:165303
      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_017024953.3XP_016880442.1  protein FAM83G isoform X1

      UniProtKB/Swiss-Prot
      A6ND36, Q3KQZ4, Q6ZW60
      Conserved Domains (2) summary
      cd09187
      Location:20307
      PLDc_FAM83G_N; N-terminal phospholipase D-like domain of the uncharacterized protein Family with sequence similarity 83G
      pfam13091
      Location:165303
      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_054316920.1XP_054172895.1  protein FAM83G isoform X1