U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

RFLNB refilin B [ Homo sapiens (human) ]

Gene ID: 359845, updated on 6-Sep-2022

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. Predicted to be active in actin filament bundle. [provided by Alliance of Genome Resources, Apr 2022]
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
Try the new Gene table
Try the new Transcript table

Genomic context

See RFLNB in Genome Data Viewer
Location:
17p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (439978..445940, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (361879..374093, complement)
105.20220307 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 uncharacterized LOC105371430 Neighboring gene chromosome 17 open reading frame 97 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

Homology

Clone Names

  • MGC45871

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables filamin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in negative regulation of chondrocyte development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in skeletal system morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin filament bundle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_182705.2NP_874364.1  refilin-B

    See identical proteins and their annotated locations for NP_874364.1

    Status: VALIDATED

    Source sequence(s)
    AC141424, BC031341
    UniProtKB/Swiss-Prot
    Q8N5W9
    Related
    ENSP00000331915.4, ENST00000329099.4
    Conserved Domains (1) summary
    pfam15068
    Location:1202
    FAM101; FAM101 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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..50318 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    361879..374093 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)