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IFT140 intraflagellar transport 140 [ Homo sapiens (human) ]

Gene ID: 9742, updated on 30-Jul-2015
Official Symbol
IFT140provided by HGNC
Official Full Name
intraflagellar transport 140provided by HGNC
Primary source
HGNC:HGNC:29077
See related
Ensembl:ENSG00000187535; HPRD:11093; MIM:614620; Vega:OTTHUMG00000128585
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MZSDS; SRTD9; WDTC2; gs114; c305C8.4; c380F5.1
Summary
This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
Orthologs
See IFT140 in Epigenomics, MapViewer
Location:
16p13.3
Exon count:
41
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (1510427..1612108, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1560428..1662109, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S3A pseudogene 2 Neighboring gene pentraxin 4, long Neighboring gene telomere maintenance 2 Neighboring gene uncharacterized LOC105371047 Neighboring gene transmembrane protein 204 Neighboring gene uncharacterized LOC105371046 Neighboring gene Crm, cramped-like (Drosophila) Neighboring gene hematological and neurological expressed 1-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
    Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • 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...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ10306, FLJ30571, KIAA0590, DKFZp564L232

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
 
organelle organization TAS
Traceable Author Statement
more info
 
photoreceptor cell outer segment organization IEA
Inferred from Electronic Annotation
more info
 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
renal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
 
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
ciliary tip TAS
Traceable Author Statement
more info
 
intraciliary transport particle A IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
primary cilium TAS
Traceable Author Statement
more info
 
Preferred Names
intraflagellar transport protein 140 homolog
Names
WD and tetratricopeptide repeats protein 2
intraflagellar transport 140 homolog

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.

Genomic

  1. NG_032783.1 RefSeqGene

    Range
    5001..106682
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014714.3NP_055529.2  intraflagellar transport protein 140 homolog

    See identical proteins and their annotated locations for NP_055529.2

    Status: REVIEWED

    Source sequence(s)
    AW245075, BC035577, DC401677
    Consensus CDS
    CCDS10439.1
    UniProtKB/Swiss-Prot
    Q96RY7
    Related
    ENSP00000406012, OTTHUMP00000158737, ENST00000426508, OTTHUMT00000250438
    Conserved Domains (4) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    pfam04097
    Location:10471223
    Nic96; Nup93/Nic96
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00006
    Location:805881
    TPR; putative protein binding surface [polypeptide binding]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    1510427..1612108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522766.1XP_011521068.1  

    Conserved Domains (4) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    pfam04097
    Location:9651141
    Nic96; Nup93/Nic96
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00006
    Location:723799
    TPR; putative protein binding surface [polypeptide binding]
  2. XM_006720990.2XP_006721053.1  

    See identical proteins and their annotated locations for XP_006721053.1

    UniProtKB/Swiss-Prot
    Q96RY7
    Conserved Domains (4) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    pfam04097
    Location:10471223
    Nic96; Nup93/Nic96
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00006
    Location:805881
    TPR; putative protein binding surface [polypeptide binding]
  3. XM_006720991.2XP_006721054.1  

    See identical proteins and their annotated locations for XP_006721054.1

    UniProtKB/Swiss-Prot
    Q96RY7
    Conserved Domains (4) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    pfam04097
    Location:10471223
    Nic96; Nup93/Nic96
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00006
    Location:805881
    TPR; putative protein binding surface [polypeptide binding]
  4. XM_006720989.2XP_006721052.1  

    See identical proteins and their annotated locations for XP_006721052.1

    UniProtKB/Swiss-Prot
    Q96RY7
    Conserved Domains (4) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    pfam04097
    Location:10471223
    Nic96; Nup93/Nic96
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00006
    Location:805881
    TPR; putative protein binding surface [polypeptide binding]
  5. XM_011522767.1XP_011521069.1  

    Conserved Domains (2) summary
    pfam04097
    Location:722898
    Nic96; Nup93/Nic96
    sd00006
    Location:480556
    TPR; putative protein binding surface [polypeptide binding]
  6. XM_006720992.2XP_006721055.1  

    Conserved Domains (1) summary
    pfam04097
    Location:258434
    Nic96; Nup93/Nic96
  7. XM_011522771.1XP_011521073.1  

    Conserved Domains (2) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  8. XM_011522772.1XP_011521074.1  

    Conserved Domains (2) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  9. XM_005255725.3XP_005255782.1  

    Conserved Domains (2) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  10. XM_011522768.1XP_011521070.1  

    Conserved Domains (2) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  11. XM_005255726.2XP_005255783.1  

    Conserved Domains (2) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  12. XM_011522769.1XP_011521071.1  

    Conserved Domains (2) summary
    COG2319
    Location:102434
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:15229
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    1560388..1662050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)