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    RFLNB refilin B [ Homo sapiens (human) ]

    Gene ID: 359845, updated on 9-Dec-2024

    Summary

    Official Symbol
    RFLNBprovided by HGNC
    Official Full Name
    refilin Bprovided by HGNC
    Primary source
    HGNC:HGNC:28705
    See related
    Ensembl:ENSG00000183688 MIM:615928; AllianceGenome:HGNC:28705
    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
    CFM1; FAM101B
    Summary
    Enables filamin binding activity. Predicted to be involved in several processes, including actin filament bundle organization; negative regulation of bone mineralization involved in bone maturation; and negative regulation of chondrocyte development. Predicted to act upstream of or within actin cytoskeleton organization and epithelial to mesenchymal transition. Predicted to be located in actin cytoskeleton and cytoplasm. Predicted to be active in actin filament bundle. [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Annotation category: suggests misassembly
    Annotation category: partial on reference assembly
    Expression
    Biased expression in bone marrow (RPKM 60.7), fat (RPKM 15.4) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RFLNB in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (439978..445940, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (361879..374190, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (289769..295731, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene rabphilin 3A like (without C2 domains) Neighboring gene Sharpr-MPRA regulatory region 2375 Neighboring gene uncharacterized LOC105371425 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:216819-218018 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:252557-253756 Neighboring gene uncharacterized LOC105371430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11437 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:276928-277621 Neighboring gene ligand of ATE1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7939 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:423721-424222 Neighboring gene uncharacterized LOC124903890 Neighboring gene uncharacterized LOC124903891 Neighboring gene VPS53 subunit of GARP complex

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC45871

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables filamin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables filamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament bundle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of bone mineralization involved in bone maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of chondrocyte development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal system morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in actin filament bundle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    refilin-B
    Names
    family with sequence similarity 101, member B
    filamin-interacting protein FAM101B
    protein FAM101B
    refilinB
    regulator of filamin protein B

    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_182705.3NP_874364.1  refilin-B

      See identical proteins and their annotated locations for NP_874364.1

      Status: VALIDATED

      Source sequence(s)
      AC141424, LJII01000250
      UniProtKB/Swiss-Prot
      Q8N5W9
      Related
      ENSP00000331915.4, ENST00000329099.4
      Conserved Domains (1) summary
      pfam15068
      Location:1202
      FAM101; FAM101 family

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      439978..445940 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017363817.1 Reference GRCh38.p14 PATCHES

      Range
      37341..50411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      361879..374190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)