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    FAM193B family with sequence similarity 193 member B [ Homo sapiens (human) ]

    Gene ID: 54540, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FAM193Bprovided by HGNC
    Official Full Name
    family with sequence similarity 193 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:25524
    See related
    Ensembl:ENSG00000146067 MIM:615813; AllianceGenome:HGNC:25524
    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
    IRIZIO
    Summary
    Located in cytoplasm; nuclear speck; and nucleolus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 18.5), skin (RPKM 16.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM193B in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177519788..177554563, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178062047..178096824, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176946789..176981564, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176929555-176930508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176930509-176931460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23727 Neighboring gene docking protein 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176943204-176944028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23728 Neighboring gene DEAD-box helicase 41 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176981263-176981766 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4836 Neighboring gene FAM193B divergent transcript Neighboring gene CRISPRi-validated cis-regulatory element chr5.4837 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:177020409-177021608 Neighboring gene transmembrane p24 trafficking protein 9

    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. The ceRNA PVT1 inhibits proliferation of ccRCC cells by sponging miR-328-3p to elevate FAM193B expression. Xie G, et al. Aging (Albany NY), 2021 Sep 13. PMID 34518442, Free PMC Article
    2. Interactions of cullin3/KCTD5 complexes with both cytoplasmic and nuclear proteins: Evidence for a role in protein stabilization. Rutz N, et al. Biochem Biophys Res Commun, 2015 Aug 28. PMID 26188516
    3. IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). Picchione F, et al. Carcinogenesis, 2011 Apr. PMID 21177767, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. Nagase T, et al. DNA Res, 2001 Aug 31. PMID 11572484
    5. Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor. Pilot-Storck F, et al. Mol Cell Proteomics, 2010 Jul. PMID 20368287, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ceRNA PVT1 inhibits proliferation of ccRCC cells by sponging miR-328-3p to elevate FAM193B expression.
      Title: The ceRNA PVT1 inhibits proliferation of ccRCC cells by sponging miR-328-3p to elevate FAM193B expression.
    2. Identification of FAM193b as KCTD5 interaction partner. Formation of trimeric complexes of KCTD5/cullin3 with MCM7, ZNF711 and FAM193B.
      Title: Interactions of cullin3/KCTD5 complexes with both cytoplasmic and nuclear proteins: Evidence for a role in protein stabilization.
    3. Expression of full length IRIZIO cDNA also cooperated with PAX3-FOXO1 in the transformation of Arf-/- myoblasts. Given that IRIZIO is expressed at increased levels in rhabdomyosarcoma, it might contribute to rhabdomyosarcomagenesis in humans.
      Title: IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS).
    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)

    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

    • FLJ10404, KIAA1931, DKFZp313I142

    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 cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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 FAM193B

    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_001190946.3 → NP_001177875.1  protein FAM193B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3, also known as delta7/8) represents the shorter transcript but encodes the supported protein.
      Source sequence(s)
      AC139795, AC145098, AI683595, BC071696, BQ228026, CN299723, DB169979
      Consensus CDS
      CCDS54954.1
      UniProtKB/TrEMBL
      Q6IPW0
      Related
      ENSP00000422131.1, ENST00000514747.6
      Conserved Domains (1) summary
      pfam15914
      Location:767 → 817
      FAM193_C; FAM193 family C-terminal

    2. NM_001366498.1 → NP_001353427.1  protein FAM193B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AB067518, AI077578, BC071696, BF768781
      UniProtKB/TrEMBL
      B3KTT8
      Conserved Domains (2) summary
      pfam15914
      Location:393 → 443
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:102 → 282
      DUF4045; Domain of unknown function (DUF4045)

    3. NM_001366499.1 → NP_001353428.1  protein FAM193B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC139795, AC145098
      UniProtKB/TrEMBL
      B3KTT8
      Conserved Domains (2) summary
      pfam15914
      Location:393 → 443
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:102 → 282
      DUF4045; Domain of unknown function (DUF4045)

    4. NM_001366500.1 → NP_001353429.1  protein FAM193B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC139795, AC145098
      Conserved Domains (4) summary
      pfam05518
      Location:96 → 191
      Totivirus_coat; Totivirus coat protein
      pfam14967
      Location:148 → 251
      FAM70; FAM70 protein
      pfam15914
      Location:734 → 784
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:443 → 641
      DUF4045; Domain of unknown function (DUF4045)

    5. NM_001410826.1 → NP_001397755.1  protein FAM193B isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC139795, AC145098
      Consensus CDS
      CCDS93831.1
      UniProtKB/Swiss-Prot
      E9PET5, Q96PV7, Q9NW00
      Related
      ENSP00000432463.2, ENST00000524677.6

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      177519788..177554563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534572.2 → XP_011532874.1  protein FAM193B isoform X1

      Conserved Domains (1) summary
      pfam15914
      Location:812 → 862
      FAM193_C; FAM193 family C-terminal

    2. XM_011534579.3 → XP_011532881.1  protein FAM193B isoform X3

      Conserved Domains (1) summary
      pfam15914
      Location:742 → 792
      FAM193_C; FAM193 family C-terminal

    3. XM_047417328.1 → XP_047273284.1  protein FAM193B isoform X6

    4. XM_047417327.1 → XP_047273283.1  protein FAM193B isoform X5

    5. XM_011534573.2 → XP_011532875.1  protein FAM193B isoform X2

      Conserved Domains (1) summary
      pfam15914
      Location:803 → 853
      FAM193_C; FAM193 family C-terminal

    6. XM_006714880.3 → XP_006714943.1  protein FAM193B isoform X4

      See identical proteins and their annotated locations for XP_006714943.1

      Conserved Domains (4) summary
      pfam05518
      Location:96 → 191
      Totivirus_coat; Totivirus coat protein
      pfam14967
      Location:148 → 251
      FAM70; FAM70 protein
      pfam15914
      Location:734 → 784
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:443 → 641
      DUF4045; Domain of unknown function (DUF4045)

    7. XM_006714879.4 → XP_006714942.1  protein FAM193B isoform X4

      See identical proteins and their annotated locations for XP_006714942.1

      Conserved Domains (4) summary
      pfam05518
      Location:96 → 191
      Totivirus_coat; Totivirus coat protein
      pfam14967
      Location:148 → 251
      FAM70; FAM70 protein
      pfam15914
      Location:734 → 784
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:443 → 641
      DUF4045; Domain of unknown function (DUF4045)

    8. XM_011534580.3 → XP_011532882.1  protein FAM193B isoform X4

      See identical proteins and their annotated locations for XP_011532882.1

      Conserved Domains (4) summary
      pfam05518
      Location:96 → 191
      Totivirus_coat; Totivirus coat protein
      pfam14967
      Location:148 → 251
      FAM70; FAM70 protein
      pfam15914
      Location:734 → 784
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:443 → 641
      DUF4045; Domain of unknown function (DUF4045)

    9. XM_047417330.1 → XP_047273286.1  protein FAM193B isoform X7

    10. XM_047417331.1 → XP_047273287.1  protein FAM193B isoform X9

    11. XM_024446121.2 → XP_024301889.1  protein FAM193B isoform X8

      UniProtKB/TrEMBL
      H0YCX2
      Conserved Domains (2) summary
      pfam15914
      Location:531 → 581
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:240 → 438
      DUF4045; Domain of unknown function (DUF4045)

    12. XM_047417332.1 → XP_047273288.1  protein FAM193B isoform X10

    RNA

    1. XR_007058608.1 RNA Sequence

    2. XR_427804.3 RNA Sequence

    3. XR_007058607.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      178062047..178096824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352840.1 → XP_054208815.1  protein FAM193B isoform X1

    2. XM_054352843.1 → XP_054208818.1  protein FAM193B isoform X3

    3. XM_054352849.1 → XP_054208824.1  protein FAM193B isoform X6

    4. XM_054352847.1 → XP_054208822.1  protein FAM193B isoform X5

    5. XM_054352841.1 → XP_054208816.1  protein FAM193B isoform X2

    6. XM_054352842.1 → XP_054208817.1  protein FAM193B isoform X11

    7. XM_054352845.1 → XP_054208820.1  protein FAM193B isoform X4

    8. XM_054352846.1 → XP_054208821.1  protein FAM193B isoform X4

    9. XM_054352844.1 → XP_054208819.1  protein FAM193B isoform X4

    10. XM_054352850.1 → XP_054208825.1  protein FAM193B isoform X7

    11. XM_054352848.1 → XP_054208823.1  protein FAM193B isoform X12

    12. XM_054352852.1 → XP_054208827.1  protein FAM193B isoform X9

    13. XM_054352851.1 → XP_054208826.1  protein FAM193B isoform X8

    14. XM_054352853.1 → XP_054208828.1  protein FAM193B isoform X10

    RNA

    1. XR_008487129.1 RNA Sequence

    2. XR_008487128.1 RNA Sequence

    3. XR_008487127.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_019057.3: Suppressed sequence

      Description
      NM_019057.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PV7.3 GenPept UniProtKB/Swiss-Prot:Q96PV7

    Gene LinkOut

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

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