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

Gene ID: 729533, updated on 27-Nov-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, Nov 2024]
Expression
Broad expression in lymph node (RPKM 5.1), bone marrow (RPKM 2.8) and 17 other tissues See more
Orthologs
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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: 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. 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.

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