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    FAM133B family with sequence similarity 133 member B [ Homo sapiens (human) ]

    Gene ID: 257415, updated on 17-Jun-2024

    Summary

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    Official Symbol
    FAM133Bprovided by HGNC
    Official Full Name
    family with sequence similarity 133 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:28629
    See related
    Ensembl:ENSG00000234545 AllianceGenome:HGNC:28629
    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
    Summary
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.6), lymph node (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM133B in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92560758..92590390, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93802706..93832343, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92190072..92219704, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GATA zinc finger domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26262 Neighboring gene peroxisomal biogenesis factor 1 Neighboring gene RNA binding motif protein 48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26264 Neighboring gene uncharacterized LOC105375397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18373 Neighboring gene Sharpr-MPRA regulatory region 6214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26266 Neighboring gene uncharacterized LOC112268009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26267 Neighboring gene cyclin dependent kinase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26268

    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. OTUB2 Promotes Cancer Metastasis via Hippo-Independent Activation of YAP and TAZ. Zhang Z, et al. Mol Cell, 2019 Jan 3. PMID 30472188
    2. SETD1A Methyltransferase Is Physically and Functionally Linked to the DNA Damage Repair Protein RAD18. Alsulami M, et al. Mol Cell Proteomics, 2019 Jul. PMID 31076518, Free PMC Article
    3. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. Lu L, et al. J Biol Chem, 2013 Dec 13. PMID 24163370, Free PMC Article
    4. TNRC6 proteins modulate hepatitis C virus replication by spatially regulating the binding of miR-122/Ago2 complexes to viral RNA. Li Y, et al. Nucleic Acids Res, 2019 Jul 9. PMID 30997501, Free PMC Article
    5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. So J, et al. Sci Signal, 2015 Apr 7. PMID 25852190

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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

    • MGC40405

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 

    General protein information

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    Preferred Names
    protein FAM133B

    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_001040057.3 → NP_001035146.1  protein FAM133B isoform 2

      See identical proteins and their annotated locations for NP_001035146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 5' region, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      BC057771, BC062706, BU581457
      Consensus CDS
      CCDS47641.1
      UniProtKB/Swiss-Prot
      Q5BKY9
      Related
      ENSP00000389783.1, ENST00000438306.5

    2. NM_001288584.2 → NP_001275513.1  protein FAM133B isoform 2

      See identical proteins and their annotated locations for NP_001275513.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate 5' terminal exon, lacks a portion of the 5' coding region and initiates translation at a downsteream start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK313692, BC032461, BU581457
      Consensus CDS
      CCDS47641.1
      UniProtKB/Swiss-Prot
      Q5BKY9
      Related
      ENSP00000402843.1, ENST00000427372.5

    3. NM_152789.4 → NP_690002.2  protein FAM133B isoform 1

      See identical proteins and their annotated locations for NP_690002.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC062706, BC090868, BU581457
      Consensus CDS
      CCDS47640.1
      UniProtKB/Swiss-Prot
      B2R994, Q05D67, Q5BKY9, Q6P5S6, Q8N0W8
      UniProtKB/TrEMBL
      B2RXJ1
      Related
      ENSP00000398401.1, ENST00000445716.6

    RNA

    1. NR_109929.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC032461, BC062706, BU581457, BX337761
      Related
      ENST00000415397.6

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      92560758..92590390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      93802706..93832343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BKY9.1 GenPept UniProtKB/Swiss-Prot:Q5BKY9

    Gene LinkOut

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

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