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RFTN1 raftlin, lipid raft linker 1 [ Homo sapiens (human) ]

Gene ID: 23180, updated on 5-Aug-2022

Summary

Official Symbol
RFTN1provided by HGNC
Official Full Name
raftlin, lipid raft linker 1provided by HGNC
Primary source
HGNC:HGNC:30278
See related
Ensembl:ENSG00000131378 MIM:618210; AllianceGenome:HGNC:30278
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
MIG2; PIG9; PIB10; RAFTLIN
Summary
Enables double-stranded RNA binding activity. Involved in B cell receptor signaling pathway; membrane raft assembly; and positive regulation of growth rate. Acts upstream of or within dsRNA transport; response to exogenous dsRNA; and toll-like receptor 3 signaling pathway. Located in endosome; membrane raft; and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lymph node (RPKM 35.0), fat (RPKM 23.7) and 23 other tissues See more
Orthologs
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Genomic context

See RFTN1 in Genome Data Viewer
Location:
3p24.3
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (16315845..16513699, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (16317057..16514836, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (16357352..16555206, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene oxidoreductase NAD binding domain containing 1 Neighboring gene uncharacterized LOC107986065 Neighboring gene THAP domain containing 5 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 2856 Neighboring gene uncharacterized LOC124906220 Neighboring gene uncharacterized LOC124906219 Neighboring gene long intergenic non-protein coding RNA 690 Neighboring gene deleted in azoospermia like

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Common body mass index-associated variants confer risk of extreme obesity.
EBI GWAS Catalog
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23866, KIAA0084, MGC44480, MGC141678

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in B cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in T cell antigen processing and presentation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in T cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within dsRNA transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane raft assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of growth rate IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of interleukin-17 production ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein transport into membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within response to exogenous dsRNA IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within toll-like receptor 3 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
raftlin
Names
cell migration-inducing gene 2 protein
proliferation-inducing protein 10
proliferation-inducing protein 9
raft-linking protein

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_015150.2NP_055965.1  raftlin

    See identical proteins and their annotated locations for NP_055965.1

    Status: VALIDATED

    Source sequence(s)
    AU138240, BC032349, D42043
    Consensus CDS
    CCDS33712.1
    UniProtKB/Swiss-Prot
    Q14699, Q7Z7P2
    UniProtKB/TrEMBL
    Q8N5I0
    Related
    ENSP00000334153.4, ENST00000334133.9
    Conserved Domains (1) summary
    pfam15250
    Location:1471
    Raftlin; Raftlin

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    16315845..16513699 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006007.3XP_016861496.1  raftlin isoform X4

  2. XM_047447783.1XP_047303739.1  raftlin isoform X4

  3. XM_005264985.2XP_005265042.1  raftlin isoform X2

    See identical proteins and their annotated locations for XP_005265042.1

    UniProtKB/Swiss-Prot
    Q14699, Q7Z7P2
    Conserved Domains (1) summary
    pfam15250
    Location:1471
    Raftlin; Raftlin
  4. XM_011533530.2XP_011531832.1  raftlin isoform X2

    See identical proteins and their annotated locations for XP_011531832.1

    UniProtKB/Swiss-Prot
    Q14699, Q7Z7P2
    Conserved Domains (1) summary
    pfam15250
    Location:1471
    Raftlin; Raftlin
  5. XM_047447780.1XP_047303736.1  raftlin isoform X2

    UniProtKB/Swiss-Prot
    Q7Z7P2
  6. XM_005264986.3XP_005265043.1  raftlin isoform X2

    See identical proteins and their annotated locations for XP_005265043.1

    UniProtKB/Swiss-Prot
    Q14699, Q7Z7P2
    Related
    ENSP00000403926.1, ENST00000432519.5
    Conserved Domains (1) summary
    pfam15250
    Location:1471
    Raftlin; Raftlin
  7. XM_006713069.2XP_006713132.1  raftlin isoform X2

    See identical proteins and their annotated locations for XP_006713132.1

    UniProtKB/Swiss-Prot
    Q14699, Q7Z7P2
    Conserved Domains (1) summary
    pfam15250
    Location:1471
    Raftlin; Raftlin
  8. XM_047447781.1XP_047303737.1  raftlin isoform X3

  9. XM_047447779.1XP_047303735.1  raftlin isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    16317057..16514836 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)