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

    Gene ID: 54540, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 18.5), skin (RPKM 16.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    • 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 

    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_001190946.3NP_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:767817
      FAM193_C; FAM193 family C-terminal
    2. NM_001366498.1NP_001353427.1  protein FAM193B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AB067518, AI077578, BC071696, BF768781
      UniProtKB/TrEMBL
      B3KTT8
      Conserved Domains (2) summary
      pfam15914
      Location:393443
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:102282
      DUF4045; Domain of unknown function (DUF4045)
    3. NM_001366499.1NP_001353428.1  protein FAM193B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC139795, AC145098
      UniProtKB/TrEMBL
      B3KTT8
      Conserved Domains (2) summary
      pfam15914
      Location:393443
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:102282
      DUF4045; Domain of unknown function (DUF4045)
    4. NM_001366500.1NP_001353429.1  protein FAM193B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC139795, AC145098
      Conserved Domains (4) summary
      pfam05518
      Location:96191
      Totivirus_coat; Totivirus coat protein
      pfam14967
      Location:148251
      FAM70; FAM70 protein
      pfam15914
      Location:734784
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:443641
      DUF4045; Domain of unknown function (DUF4045)
    5. NM_001410826.1NP_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_011534572.2XP_011532874.1  protein FAM193B isoform X1

      Conserved Domains (1) summary
      pfam15914
      Location:812862
      FAM193_C; FAM193 family C-terminal
    2. XM_011534579.3XP_011532881.1  protein FAM193B isoform X3

      Conserved Domains (1) summary
      pfam15914
      Location:742792
      FAM193_C; FAM193 family C-terminal
    3. XM_047417328.1XP_047273284.1  protein FAM193B isoform X6

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

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

      Conserved Domains (1) summary
      pfam15914
      Location:803853
      FAM193_C; FAM193 family C-terminal
    6. XM_006714880.3XP_006714943.1  protein FAM193B isoform X4

      See identical proteins and their annotated locations for XP_006714943.1

      Conserved Domains (4) summary
      pfam05518
      Location:96191
      Totivirus_coat; Totivirus coat protein
      pfam14967
      Location:148251
      FAM70; FAM70 protein
      pfam15914
      Location:734784
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:443641
      DUF4045; Domain of unknown function (DUF4045)
    7. XM_006714879.4XP_006714942.1  protein FAM193B isoform X4

      See identical proteins and their annotated locations for XP_006714942.1

      Conserved Domains (4) summary
      pfam05518
      Location:96191
      Totivirus_coat; Totivirus coat protein
      pfam14967
      Location:148251
      FAM70; FAM70 protein
      pfam15914
      Location:734784
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:443641
      DUF4045; Domain of unknown function (DUF4045)
    8. XM_011534580.3XP_011532882.1  protein FAM193B isoform X4

      See identical proteins and their annotated locations for XP_011532882.1

      Conserved Domains (4) summary
      pfam05518
      Location:96191
      Totivirus_coat; Totivirus coat protein
      pfam14967
      Location:148251
      FAM70; FAM70 protein
      pfam15914
      Location:734784
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:443641
      DUF4045; Domain of unknown function (DUF4045)
    9. XM_047417330.1XP_047273286.1  protein FAM193B isoform X7

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

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

      UniProtKB/TrEMBL
      H0YCX2
      Conserved Domains (2) summary
      pfam15914
      Location:531581
      FAM193_C; FAM193 family C-terminal
      cl25751
      Location:240438
      DUF4045; Domain of unknown function (DUF4045)
    12. XM_047417332.1XP_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_054352840.1XP_054208815.1  protein FAM193B isoform X1

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

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

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

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

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

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

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

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

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

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

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

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

    14. XM_054352853.1XP_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.