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

Gene ID: 54540, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 18.5), skin (RPKM 16.9) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177519788..177554563, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178062047..178096824, complement)
105.20220307 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
  • 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 (29) 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_2023_10

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

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