U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    IFT140 intraflagellar transport 140 [ Homo sapiens (human) ]

    Gene ID: 9742, updated on 10-Dec-2024

    Summary

    Official Symbol
    IFT140provided by HGNC
    Official Full Name
    intraflagellar transport 140provided by HGNC
    Primary source
    HGNC:HGNC:29077
    See related
    Ensembl:ENSG00000187535 MIM:614620; AllianceGenome:HGNC:29077
    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
    RP80; 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]
    Expression
    Broad expression in testis (RPKM 6.4), thyroid (RPKM 4.0) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IFT140 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1510427..1612072, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1525455..1627919, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1560428..1662073, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1534269-1534471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1543166-1544066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10226 Neighboring gene RPS3A pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1544968-1545868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1545869-1546768 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42864 Neighboring gene pentraxin 4 Neighboring gene telomere maintenance 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:1574508-1575707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1582993-1583696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1583697-1584400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1592422-1593124 Neighboring gene transmembrane protein 204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1605115-1605614 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1609654-1609839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1611806-1612415 Neighboring gene uncharacterized LOC105371046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:1662256-1662756 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:1662757-1663257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10230 Neighboring gene cramped chromatin regulator homolog 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1696049-1696268 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1701290-1701464 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1728137-1728772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1739823-1740519 Neighboring gene Sharpr-MPRA regulatory region 11614 Neighboring gene Jupiter microtubule associated homolog 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10306, FLJ30571, KIAA0590, DKFZp564L232

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary retrograde transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in photoreceptor cell outer segment organization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cone photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of intraciliary transport particle A IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    intraflagellar transport protein 140 homolog
    Names
    WD and tetratricopeptide repeats protein 2
    intraflagellar transport 140 homolog

    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.

    Genomic

    1. NG_032783.1 RefSeqGene

      Range
      5037..106682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014714.4NP_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
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
      Related
      ENSP00000406012.2, ENST00000426508.7
      Conserved Domains (5) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00006
      Location:957983
      TPR; TPR repeat [structural motif]
      sd00039
      Location:1959
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:19121
      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 ...
      cl26002
      Location:9511233
      TPR_11; TPR repeat

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1510427..1612072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434970.1XP_047290926.1  intraflagellar transport protein 140 homolog isoform X2

    2. XM_006720990.4XP_006721053.1  intraflagellar transport protein 140 homolog isoform X1

      See identical proteins and their annotated locations for XP_006721053.1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
      Conserved Domains (5) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00006
      Location:957983
      TPR; TPR repeat [structural motif]
      sd00039
      Location:1959
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:19121
      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 ...
      cl26002
      Location:9511233
      TPR_11; TPR repeat
    3. XM_047434969.1XP_047290925.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    4. XM_047434966.1XP_047290922.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    5. XM_006720991.4XP_006721054.1  intraflagellar transport protein 140 homolog isoform X1

      See identical proteins and their annotated locations for XP_006721054.1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
      Conserved Domains (5) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00006
      Location:957983
      TPR; TPR repeat [structural motif]
      sd00039
      Location:1959
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:19121
      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 ...
      cl26002
      Location:9511233
      TPR_11; TPR repeat
    6. XM_047434967.1XP_047290923.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    7. XM_047434968.1XP_047290924.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    8. XM_047434965.1XP_047290921.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    9. XM_011522767.2XP_011521069.1  intraflagellar transport protein 140 homolog isoform X3

      UniProtKB/TrEMBL
      B4DR58
      Conserved Domains (2) summary
      TIGR02917
      Location:626908
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:478512
      TPR; TPR repeat [structural motif]
    10. XM_047434971.1XP_047290927.1  intraflagellar transport protein 140 homolog isoform X4

    11. XM_006720992.4XP_006721055.1  intraflagellar transport protein 140 homolog isoform X11

      UniProtKB/TrEMBL
      B3KNW3
      Related
      ENSP00000354895.5, ENST00000361339.9
    12. XM_011522771.4XP_011521073.1  intraflagellar transport protein 140 homolog isoform X8

      UniProtKB/TrEMBL
      B4DQZ8
      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      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 ...
    13. XM_047434972.1XP_047290928.1  intraflagellar transport protein 140 homolog isoform X6

      UniProtKB/TrEMBL
      B4DQZ8
    14. XM_011522772.4XP_011521074.1  intraflagellar transport protein 140 homolog isoform X9

      UniProtKB/TrEMBL
      B4DQZ8
      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      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 ...
    15. XM_047434975.1XP_047290931.1  intraflagellar transport protein 140 homolog isoform X8

      UniProtKB/TrEMBL
      B4DQZ8
    16. XM_047434974.1XP_047290930.1  intraflagellar transport protein 140 homolog isoform X8

      UniProtKB/TrEMBL
      B4DQZ8
    17. XM_047434976.1XP_047290932.1  intraflagellar transport protein 140 homolog isoform X9

      UniProtKB/TrEMBL
      B4DQZ8
    18. XM_005255725.6XP_005255782.1  intraflagellar transport protein 140 homolog isoform X7

      UniProtKB/TrEMBL
      B4DQZ8
      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      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 ...
    19. XM_047434973.1XP_047290929.1  intraflagellar transport protein 140 homolog isoform X7

      UniProtKB/TrEMBL
      B4DQZ8
    20. XM_005255726.5XP_005255783.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      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 ...
    21. XM_047434978.1XP_047290934.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    22. XM_047434977.1XP_047290933.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    23. XM_047434980.1XP_047290936.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    24. XM_047434979.1XP_047290935.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    25. XM_011522769.4XP_011521071.1  intraflagellar transport protein 140 homolog isoform X5

      UniProtKB/TrEMBL
      B4DQZ8
      Conserved Domains (3) summary
      COG2319
      Location:102434
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2155
      7WD40; WD40 repeat [structural motif]
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1525455..1627919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314518.1XP_054170493.1  intraflagellar transport protein 140 homolog isoform X2

    2. XM_054314512.1XP_054170487.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    3. XM_054314515.1XP_054170490.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    4. XM_054314514.1XP_054170489.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    5. XM_054314516.1XP_054170491.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    6. XM_054314513.1XP_054170488.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    7. XM_054314517.1XP_054170492.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    8. XM_054314511.1XP_054170486.1  intraflagellar transport protein 140 homolog isoform X1

      UniProtKB/Swiss-Prot
      A2A2A8, D3DU75, O60332, Q96RY7, Q9UG52
    9. XM_054314519.1XP_054170494.1  intraflagellar transport protein 140 homolog isoform X3

      UniProtKB/TrEMBL
      B4DR58
    10. XM_054314520.1XP_054170495.1  intraflagellar transport protein 140 homolog isoform X4

    11. XM_054314535.1XP_054170510.1  intraflagellar transport protein 140 homolog isoform X11

      UniProtKB/TrEMBL
      B3KNW3
    12. XM_054314525.1XP_054170500.1  intraflagellar transport protein 140 homolog isoform X8

      UniProtKB/TrEMBL
      B4DQZ8
    13. XM_054314527.1XP_054170502.1  intraflagellar transport protein 140 homolog isoform X8

      UniProtKB/TrEMBL
      B4DQZ8
    14. XM_054314522.1XP_054170497.1  intraflagellar transport protein 140 homolog isoform X6

      UniProtKB/TrEMBL
      B4DQZ8
    15. XM_054314528.1XP_054170503.1  intraflagellar transport protein 140 homolog isoform X9

      UniProtKB/TrEMBL
      B4DQZ8
    16. XM_054314526.1XP_054170501.1  intraflagellar transport protein 140 homolog isoform X8

      UniProtKB/TrEMBL
      B4DQZ8
    17. XM_054314529.1XP_054170504.1  intraflagellar transport protein 140 homolog isoform X9

      UniProtKB/TrEMBL
      B4DQZ8
    18. XM_054314523.1XP_054170498.1  intraflagellar transport protein 140 homolog isoform X7

      UniProtKB/TrEMBL
      B4DQZ8
    19. XM_054314524.1XP_054170499.1  intraflagellar transport protein 140 homolog isoform X7

      UniProtKB/TrEMBL
      B4DQZ8
    20. XM_054314530.1XP_054170505.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    21. XM_054314534.1XP_054170509.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    22. XM_054314532.1XP_054170507.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    23. XM_054314533.1XP_054170508.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    24. XM_054314531.1XP_054170506.1  intraflagellar transport protein 140 homolog isoform X10

      UniProtKB/TrEMBL
      B4DQZ8
    25. XM_054314521.1XP_054170496.1  intraflagellar transport protein 140 homolog isoform X5

      UniProtKB/TrEMBL
      B4DQZ8