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    FAM72A family with sequence similarity 72 member A [ Homo sapiens (human) ]

    Gene ID: 729533, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM72Aprovided by HGNC
    Official Full Name
    family with sequence similarity 72 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:24044
    See related
    Ensembl:ENSG00000196550 MIM:614710; AllianceGenome:HGNC:24044
    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
    p17; LMPIP; Ugene
    Summary
    Predicted to act upstream of or within negative regulation of brain-derived neurotrophic factor-activated receptor activity and positive regulation of apoptotic process. Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lymph node (RPKM 5.1), bone marrow (RPKM 2.8) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM72A in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (206186179..206205773, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205450361..205469960, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206135557..206155151)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372869 Neighboring gene AVPR1B divergent transcript Neighboring gene uncharacterized LOC105372873 Neighboring gene ribosomal protein L22 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:206137267-206137987 Neighboring gene SLIT-ROBO Rho GTPase activating protein 2 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:206105690-206106456 Neighboring gene Sharpr-MPRA regulatory region 15698 duplicate 3 Neighboring gene Sharpr-MPRA regulatory region 356 duplicate 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:206553913-206554820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:206628023-206628694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206640325-206641190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206641191-206642054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:206642729-206643366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2401 Neighboring gene microRNA 6769b Neighboring gene IKBKE antisense RNA 1 Neighboring gene inhibitor of nuclear factor kappa B kinase subunit epsilon

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The pan-cancer analysis of the oncogenic role of FAM72A as a BRCA prognostic biomarker and immunotherapeutic target. Xu Y, et al. Environ Toxicol, 2023 May. PMID 36757015
    2. Ugene, a newly identified protein that is commonly overexpressed in cancer and binds uracil DNA glycosylase. Guo C, et al. Cancer Res, 2008 Aug 1. PMID 18676834, Free PMC Article
    3. Functional interaction of Ugene and EBV infection mediates tumorigenic effects. Wang LT, et al. Oncogene, 2011 Jun 30. PMID 21317926
    4. The protein p17 signaling pathways in cancer. Heese K. Tumour Biol, 2013 Dec. PMID 23900679
    5. Lead discovery and in silico 3D structure modeling of tumorigenic FAM72A (p17). Pramanik S, et al. Tumour Biol, 2015 Jan. PMID 25234718

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The pan-cancer analysis of the oncogenic role of FAM72A as a BRCA prognostic biomarker and immunotherapeutic target.
      Title: The pan-cancer analysis of the oncogenic role of FAM72A as a BRCA prognostic biomarker and immunotherapeutic target.
    2. Fam72a functions as a cell-cycle-controlled gene during proliferation and antagonizes apoptosis through reprogramming PP2A substrates.
      Title: Fam72a functions as a cell-cycle-controlled gene during proliferation and antagonizes apoptosis through reprogramming PP2A substrates.
    3. Prognostic and Immunological Implications of FAM72A in Pan-Cancer and Functional Validations.
      Title: Prognostic and Immunological Implications of FAM72A in Pan-Cancer and Functional Validations.
    4. FAM72A antagonizes UNG2 to promote mutagenic repair during antibody maturation.
      Title: FAM72A antagonizes UNG2 to promote mutagenic repair during antibody maturation.
    5. An epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci (FAM72A, FAM72B, FAM72C, FAM72D).
      Title: All-or-(N)One - an epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci.
    6. Data indicate that p17 (p17 amyloid-beta peptide-induced protein; known as Ugene, LMPIP, or FAM72A/B) drives the cell cycle into the G0/G1 phase and enhances survival of proliferating cells.
      Title: The protein p17 signaling pathways in cancer.
    7. this study provides an additional possible mechanism of neurotoxicity in Alzheimer's disease, the induction of p17(FAM72B), through which Abeta acts to induce apoptosis and exhibit other Alzheimer's disease characteristics.
      Title: Identification and characterisation of the novel amyloid-beta peptide-induced protein p17.
    8. It was found that Ugene, designated herein as LMP1-induced protein (LMPIP), was induced, in a time-dependent manner, in EBV-infected peripheral blood mononuclear cells and LMP1-transfected 293 cells.
      Title: Functional interaction of Ugene and EBV infection mediates tumorigenic effects.
    9. Using deletion constructs, the authors find that Ugene binds to the first 25 amino acids of the UNG2 NH(2) terminus. They suggest that Ugene induction in cancer may contribute to the cancer phenotype by interacting with the BER pathway.
      Title: Ugene, a newly identified protein that is commonly overexpressed in cancer and binds uracil DNA glycosylase.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • MGC46651, MGC57827, MGC169168, MGC182081, MGC182095

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    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
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM72A
    Names
    LMP1-induced protein
    latent membrane protein 1-induced protein

    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_001123168.3 → NP_001116640.1  protein FAM72A isoform 1

      See identical proteins and their annotated locations for NP_001116640.1

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS73016.1
      UniProtKB/Swiss-Prot
      B2RV15, Q5TYM4, Q5TYM5
      UniProtKB/TrEMBL
      B2RPQ4
      Related
      ENSP00000356096.3, ENST00000367128.8
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 149
      FAM72; FAM72 protein

    2. NM_001317901.2 → NP_001304830.1  protein FAM72A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS81420.1
      UniProtKB/TrEMBL
      A0A087X1Y7, Q5TYM6
      Related
      ENSP00000356097.2, ENST00000367129.6
      Conserved Domains (1) summary
      pfam14976
      Location:49 → 149
      FAM72; FAM72 protein

    3. NM_001385240.1 → NP_001372169.1  protein FAM72A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS73016.1
      UniProtKB/Swiss-Prot
      B2RV15, Q5TYM4, Q5TYM5
      UniProtKB/TrEMBL
      B2RPQ4
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 149
      FAM72; FAM72 protein

    4. NM_001385241.1 → NP_001372170.1  protein FAM72A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS73016.1
      UniProtKB/Swiss-Prot
      B2RV15, Q5TYM4, Q5TYM5
      UniProtKB/TrEMBL
      B2RPQ4
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 149
      FAM72; FAM72 protein

    5. NM_001385242.1 → NP_001372171.1  protein FAM72A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS73016.1
      UniProtKB/Swiss-Prot
      B2RV15, Q5TYM4, Q5TYM5
      UniProtKB/TrEMBL
      B2RPQ4
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 149
      FAM72; FAM72 protein

    6. NM_001385243.1 → NP_001372172.1  protein FAM72A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS81420.1
      UniProtKB/TrEMBL
      A0A087X1Y7, Q5TYM6
      Conserved Domains (1) summary
      pfam14976
      Location:49 → 149
      FAM72; FAM72 protein

    7. NM_001385244.1 → NP_001372173.1  protein FAM72A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS81420.1
      UniProtKB/TrEMBL
      A0A087X1Y7, Q5TYM6
      Conserved Domains (1) summary
      pfam14976
      Location:49 → 149
      FAM72; FAM72 protein

    8. NM_001385245.1 → NP_001372174.1  protein FAM72A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS81420.1
      UniProtKB/TrEMBL
      A0A087X1Y7, Q5TYM6
      Conserved Domains (1) summary
      pfam14976
      Location:49 → 149
      FAM72; FAM72 protein

    9. NM_001385248.1 → NP_001372177.1  protein FAM72A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC244035
      UniProtKB/TrEMBL
      Q5QP12, U3KPW2
      Related
      ENSP00000475292.1, ENST00000431655.2
      Conserved Domains (1) summary
      pfam14976
      Location:1 → 120
      FAM72; FAM72 protein

    10. NM_001385249.1 → NP_001372178.1  protein FAM72A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC244035
      UniProtKB/TrEMBL
      Q5QP12, U3KPW2
      Conserved Domains (1) summary
      pfam14976
      Location:1 → 120
      FAM72; FAM72 protein

    11. NM_001385251.1 → NP_001372180.1  protein FAM72A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC244035
      Consensus CDS
      CCDS91153.1
      UniProtKB/TrEMBL
      Q5QP12
      Related
      ENSP00000340661.5, ENST00000341209.9
      Conserved Domains (1) summary
      pfam14976
      Location:11 → 109
      FAM72; FAM72 protein

    RNA

    1. NR_134239.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC244035

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      206186179..206205773 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509966.4 → XP_011508268.1  protein FAM72A isoform X1

      Conserved Domains (1) summary
      pfam14976
      Location:6 → 118
      FAM72; FAM72 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      205450361..205469960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338606.1 → XP_054194581.1  protein FAM72A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TYM5.1 GenPept UniProtKB/Swiss-Prot:Q5TYM5

    Gene LinkOut

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

    Chemical Information
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