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IFT140 intraflagellar transport 140 [ Homo sapiens (human) ]

Gene ID: 9742, updated on 3-Apr-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
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Genomic context

See IFT140 in Genome Data Viewer
Location:
16p13.3
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1510427..1612072, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1525455..1627919, complement)
105.20220307 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: 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?

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 molecular_function ND
No biological Data available
more info
 
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_2023_10

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

  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

  16. XM_047434974.1XP_047290930.1  intraflagellar transport protein 140 homolog isoform X8

  17. XM_047434976.1XP_047290932.1  intraflagellar transport protein 140 homolog isoform X9

  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

  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

  22. XM_047434977.1XP_047290933.1  intraflagellar transport protein 140 homolog isoform X10

  23. XM_047434980.1XP_047290936.1  intraflagellar transport protein 140 homolog isoform X10

  24. XM_047434979.1XP_047290935.1  intraflagellar transport protein 140 homolog isoform X10

  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

  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

  12. XM_054314525.1XP_054170500.1  intraflagellar transport protein 140 homolog isoform X8

  13. XM_054314527.1XP_054170502.1  intraflagellar transport protein 140 homolog isoform X8

  14. XM_054314522.1XP_054170497.1  intraflagellar transport protein 140 homolog isoform X6

  15. XM_054314528.1XP_054170503.1  intraflagellar transport protein 140 homolog isoform X9

  16. XM_054314526.1XP_054170501.1  intraflagellar transport protein 140 homolog isoform X8

  17. XM_054314529.1XP_054170504.1  intraflagellar transport protein 140 homolog isoform X9

  18. XM_054314523.1XP_054170498.1  intraflagellar transport protein 140 homolog isoform X7

  19. XM_054314524.1XP_054170499.1  intraflagellar transport protein 140 homolog isoform X7

  20. XM_054314530.1XP_054170505.1  intraflagellar transport protein 140 homolog isoform X10

  21. XM_054314534.1XP_054170509.1  intraflagellar transport protein 140 homolog isoform X10

  22. XM_054314532.1XP_054170507.1  intraflagellar transport protein 140 homolog isoform X10

  23. XM_054314533.1XP_054170508.1  intraflagellar transport protein 140 homolog isoform X10

  24. XM_054314531.1XP_054170506.1  intraflagellar transport protein 140 homolog isoform X10

  25. XM_054314521.1XP_054170496.1  intraflagellar transport protein 140 homolog isoform X5