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

Gene ID: 54540, updated on 21-Dec-2019

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
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
Expression
Ubiquitous expression in spleen (RPKM 18.5), skin (RPKM 16.9) and 25 other tissues See more
Orthologs

Genomic context

See FAM193B in Genome Data Viewer
Location:
5q35.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177519788..177554563, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176946790..176981548, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene docking protein 3 Neighboring gene DEAD-box helicase 41 Neighboring gene uncharacterized LOC107986488 Neighboring gene uncharacterized LOC105377750 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4836 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4837

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10404, KIAA1931, DKFZp313I142

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    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
    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)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024446120.1XP_024301888.1  protein FAM193B isoform X4

    Conserved Domains (3) summary
    pfam05518
    Location:131226
    Totivirus_coat; Totivirus coat protein
    pfam15914
    Location:769819
    FAM193_C; FAM193 family C-terminal
    cl25751
    Location:478676
    DUF4045; Domain of unknown function (DUF4045)
  2. XM_011534572.1XP_011532874.1  protein FAM193B isoform X2

    Conserved Domains (1) summary
    pfam15914
    Location:812862
    FAM193_C; FAM193 family C-terminal
  3. XM_006714875.2XP_006714938.1  protein FAM193B isoform X1

    See identical proteins and their annotated locations for XP_006714938.1

    UniProtKB/Swiss-Prot
    Q96PV7
    Conserved Domains (1) summary
    pfam15914
    Location:847897
    FAM193_C; FAM193 family C-terminal
  4. XM_011534573.1XP_011532875.1  protein FAM193B isoform X3

    Conserved Domains (1) summary
    pfam15914
    Location:803853
    FAM193_C; FAM193 family C-terminal
  5. XM_011534579.2XP_011532881.1  protein FAM193B isoform X5

    Conserved Domains (1) summary
    pfam15914
    Location:742792
    FAM193_C; FAM193 family C-terminal
  6. XM_011534574.2XP_011532876.1  protein FAM193B isoform X4

    Conserved Domains (3) summary
    pfam05518
    Location:131226
    Totivirus_coat; Totivirus coat protein
    pfam15914
    Location:769819
    FAM193_C; FAM193 family C-terminal
    cl25751
    Location:478676
    DUF4045; Domain of unknown function (DUF4045)
  7. XM_006714880.2XP_006714943.1  protein FAM193B isoform X6

    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)
  8. XM_006714878.2XP_006714941.1  protein FAM193B isoform X6

    See identical proteins and their annotated locations for XP_006714941.1

    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_006714879.3XP_006714942.1  protein FAM193B isoform X6

    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)
  10. XM_011534580.2XP_011532882.1  protein FAM193B isoform X6

    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)
  11. XM_024446121.1XP_024301889.1  protein FAM193B isoform X7

    Conserved Domains (2) summary
    pfam15914
    Location:531581
    FAM193_C; FAM193 family C-terminal
    cl25751
    Location:240438
    DUF4045; Domain of unknown function (DUF4045)
  12. XM_006714885.1XP_006714948.1  protein FAM193B isoform X8

    See identical proteins and their annotated locations for XP_006714948.1

    UniProtKB/Swiss-Prot
    Q96PV7
    Related
    ENSP00000432463.1, ENST00000524677.5
    Conserved Domains (2) summary
    pfam15914
    Location:393443
    FAM193_C; FAM193 family C-terminal
    cl25751
    Location:102282
    DUF4045; Domain of unknown function (DUF4045)
  13. XM_006714886.2XP_006714949.1  protein FAM193B isoform X9

    Conserved Domains (1) summary
    PLN02983
    Location:256323
    PLN02983; biotin carboxyl carrier protein of acetyl-CoA carboxylase

RNA

  1. XR_427804.2 RNA Sequence

  2. XR_941106.1 RNA Sequence

  3. XR_941105.1 RNA Sequence

  4. XR_941104.1 RNA Sequence

  5. XR_427806.2 RNA Sequence

    Related
    ENST00000510479.5
  6. XR_427805.2 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.
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