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IFT46 intraflagellar transport 46 [ Homo sapiens (human) ]

Gene ID: 56912, updated on 12-Aug-2018

Summary

Official Symbol
IFT46provided by HGNC
Official Full Name
intraflagellar transport 46provided by HGNC
Primary source
HGNC:HGNC:26146
See related
Ensembl:ENSG00000118096 Vega:OTTHUMG00000166408
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
CFAP32; C11orf2; C11orf60
Expression
Ubiquitous expression in testis (RPKM 6.3), thyroid (RPKM 5.1) and 25 other tissues See more
Orthologs

Genomic context

See IFT46 in Genome Data Viewer
Location:
11q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (118544528..118576456, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118415243..118436791, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene lysine methyltransferase 2A Neighboring gene uncharacterized LOC101929089 Neighboring gene tetratricopeptide repeat domain 36 Neighboring gene transmembrane protein 25 Neighboring gene ribosomal protein L5 pseudogene 30 Neighboring gene archain 1 Neighboring gene RNA, U6 small nuclear 1157, pseudogene Neighboring gene pleckstrin homology like domain family B member 1 Neighboring gene microRNA 6716

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21827

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein C-terminus binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport ISS
Inferred from Sequence or Structural Similarity
more info
 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
 
motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
intraflagellar transport protein 46 homolog
Names
UPF0360
cilia and flagella associated protein 32
intraflagellar transport 46 homolog
intraflagellar transport protein IFT46

NCBI Reference Sequences (RefSeq)

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_001168618.1NP_001162089.1  intraflagellar transport protein 46 homolog isoform 2

    See identical proteins and their annotated locations for NP_001162089.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AK289521, BC022856, DA251912
    Consensus CDS
    CCDS53718.1
    UniProtKB/Swiss-Prot
    Q9NQC8
    Related
    ENSP00000264021.3, OTTHUMP00000232826, ENST00000264021.7, OTTHUMT00000389627
    Conserved Domains (1) summary
    pfam12317
    Location:65267
    IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
  2. NM_020153.3NP_064538.3  intraflagellar transport protein 46 homolog isoform 1

    See identical proteins and their annotated locations for NP_064538.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK025480, AK289521, AP000941, BC022856, DA251912
    Consensus CDS
    CCDS8399.1
    UniProtKB/Swiss-Prot
    Q9NQC8
    UniProtKB/TrEMBL
    A0A024R3G9
    Related
    ENSP00000264020.2, OTTHUMP00000232827, ENST00000264020.6, OTTHUMT00000389628
    Conserved Domains (1) summary
    pfam12317
    Location:116318
    IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    118544528..118576456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542906.3XP_011541208.1  intraflagellar transport protein 46 homolog isoform X2

    See identical proteins and their annotated locations for XP_011541208.1

    UniProtKB/Swiss-Prot
    Q9NQC8
    Conserved Domains (1) summary
    pfam12317
    Location:65267
    IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
  2. XM_017018018.2XP_016873507.1  intraflagellar transport protein 46 homolog isoform X2

    UniProtKB/Swiss-Prot
    Q9NQC8
    Conserved Domains (1) summary
    pfam12317
    Location:65267
    IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
  3. XM_011542905.3XP_011541207.1  intraflagellar transport protein 46 homolog isoform X1

    See identical proteins and their annotated locations for XP_011541207.1

    UniProtKB/TrEMBL
    A0A024R3G9
    Conserved Domains (1) summary
    pfam12317
    Location:116318
    IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
  4. XM_017018017.1XP_016873506.1  intraflagellar transport protein 46 homolog isoform X1

    UniProtKB/TrEMBL
    A0A024R3G9
    Conserved Domains (1) summary
    pfam12317
    Location:116318
    IFT46_B_C; Intraflagellar transport complex B protein 46 C terminal
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