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

Gene ID: 257415, updated on 5-Mar-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
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Genomic context

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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

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