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IFT122 intraflagellar transport 122 [ Homo sapiens (human) ]

Gene ID: 55764, updated on 17-Jun-2019

Summary

Official Symbol
IFT122provided by HGNC
Official Full Name
intraflagellar transport 122provided by HGNC
Primary source
HGNC:HGNC:13556
See related
Ensembl:ENSG00000163913 MIM:606045
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
CED; SPG; CED1; WDR10; WDR10p; WDR140
Summary
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Expression
Broad expression in testis (RPKM 41.7), ovary (RPKM 7.5) and 15 other tissues See more
Orthologs

Genomic context

See IFT122 in Genome Data Viewer
Location:
3q21.3-q22.1
Exon count:
34
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (129440036..129520507)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129158671..129239350)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L32 pseudogene 3 Neighboring gene small nucleolar RNA, H/ACA box 7B Neighboring gene EF-hand calcium binding domain 12 Neighboring gene methyl-CpG binding domain 4, DNA glycosylase Neighboring gene Sharpr-MPRA regulatory region 8693 Neighboring gene rhodopsin enhancer region Neighboring gene rhodopsin

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with intraflagellar transport 122 homolog (IFT122) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

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...
  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
camera-type eye morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary receptor clustering involved in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic body morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic heart tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic heart tube left/right pattern formation IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization to organelle IEA
Inferred from Electronic Annotation
more info
 
intraciliary anterograde transport IEA
Inferred from Electronic Annotation
more info
 
intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary retrograde transport ISS
Inferred from Sequence or Structural Similarity
more info
 
intraciliary transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
limb development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning IEA
Inferred from Electronic Annotation
more info
 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction downstream of smoothened IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
ciliary base IEA
Inferred from Electronic Annotation
more info
 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium TAS
Traceable Author Statement
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
intraciliary transport particle A IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport particle A IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
non-motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
photoreceptor connecting cilium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
intraflagellar transport protein 122 homolog
Names
WD repeat domain 10
WD repeat-containing protein 10
WD repeat-containing protein 140
intraflagellar transport 122 homolog

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.

Genomic

  1. NG_023392.1 RefSeqGene

    Range
    4912..85383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001280541.2NP_001267470.1  intraflagellar transport protein 122 homolog isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 5, which is shorter than isoform 1.
    Source sequence(s)
    AF244931, AK315103, BC028353, BF941125, DB516647
    Consensus CDS
    CCDS63770.1
    UniProtKB/Swiss-Prot
    Q9HBG6
    Related
    ENSP00000425536.1, ENST00000507564.5
    Conserved Domains (3) summary
    COG2319
    Location:4340
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:49341
    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 ...
  2. NM_001280545.1NP_001267474.1  intraflagellar transport protein 122 homolog isoform 6

    See identical proteins and their annotated locations for NP_001267474.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon and contains an alternate exon in the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 6, which is shorter than isoform 1.
    Source sequence(s)
    AF244930, AK096891, AK124140, BF941125, DB099554, DB516647
    Consensus CDS
    CCDS63772.1
    UniProtKB/Swiss-Prot
    Q9HBG6
    UniProtKB/TrEMBL
    B3KUD1
    Related
    ENSP00000410946.2, ENST00000431818.6
    Conserved Domains (3) summary
    COG2319
    Location:2200
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:133167
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:134200
    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 ...
  3. NM_001280546.1NP_001267475.1  intraflagellar transport protein 122 homolog isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks three alternate exons in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 7, which is shorter than isoform 1.
    Source sequence(s)
    AK096891, AK124140, AK298526, AK299903, BF941125, DB099554, DB516647
    Consensus CDS
    CCDS63773.1
    UniProtKB/Swiss-Prot
    Q9HBG6
    UniProtKB/TrEMBL
    B3KUD1, B4DST2
    Related
    ENSP00000401569.2, ENST00000440957.6
    Conserved Domains (3) summary
    COG2319
    Location:24141
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3064
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:24142
    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 ...
  4. NM_018262.4NP_060732.2  intraflagellar transport protein 122 homolog isoform 3

    See identical proteins and their annotated locations for NP_060732.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. It encodes isoform 3, which lacks two internal segments and is shorter than isoform 1.
    Source sequence(s)
    AK001759, BC028353, BF941125, DB516647
    Consensus CDS
    CCDS3059.1
    UniProtKB/Swiss-Prot
    Q9HBG6
    Related
    ENSP00000323973.3, ENST00000347300.6
    Conserved Domains (3) summary
    COG2319
    Location:15289
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:49291
    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 ...
  5. NM_052985.4NP_443711.2  intraflagellar transport protein 122 homolog isoform 1

    See identical proteins and their annotated locations for NP_443711.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF244931, AK298526, BF941125, DB516647
    Consensus CDS
    CCDS3060.1
    UniProtKB/Swiss-Prot
    Q9HBG6
    Related
    ENSP00000296266.3, ENST00000296266.7
    Conserved Domains (3) summary
    COG2319
    Location:15240
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:12241
    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 ...
  6. NM_052989.3NP_443715.1  intraflagellar transport protein 122 homolog isoform 2

    See identical proteins and their annotated locations for NP_443715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter that isoform 1.
    Source sequence(s)
    AF244931, AF302154, BF941125, DB099554, DB516647
    Consensus CDS
    CCDS3061.1
    UniProtKB/Swiss-Prot
    Q9HBG6
    Related
    ENSP00000324005.3, ENST00000348417.6
    Conserved Domains (3) summary
    COG2319
    Location:4348
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:15190
    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 ...
  7. NM_052990.3NP_443716.1  intraflagellar transport protein 122 homolog isoform 4

    See identical proteins and their annotated locations for NP_443716.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks four alternate exons in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 4, which lacks two in-frame segments and is shorter, compared to isoform 1.
    Source sequence(s)
    AK298526, BC003045, BF941125, DB099554, DB516647
    Consensus CDS
    CCDS3062.1
    UniProtKB/Swiss-Prot
    Q9HBG6
    Related
    ENSP00000324165.3, ENST00000349441.6
    Conserved Domains (3) summary
    COG2319
    Location:15237
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl26002
    Location:599807
    TPR_11; TPR repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    129440036..129520507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006831.1XP_016862320.1  intraflagellar transport protein 122 homolog isoform X18

  2. XM_017006835.1XP_016862324.1  intraflagellar transport protein 122 homolog isoform X21

  3. XM_017006822.2XP_016862311.1  intraflagellar transport protein 122 homolog isoform X8

  4. XM_017006828.2XP_016862317.1  intraflagellar transport protein 122 homolog isoform X16

  5. XM_017006829.2XP_016862318.1  intraflagellar transport protein 122 homolog isoform X17

  6. XM_017006833.2XP_016862322.1  intraflagellar transport protein 122 homolog isoform X19

    Related
    ENSP00000422179.1, ENST00000504021.5
  7. XM_017006834.2XP_016862323.1  intraflagellar transport protein 122 homolog isoform X20

  8. XM_017006817.2XP_016862306.1  intraflagellar transport protein 122 homolog isoform X1

  9. XM_017006818.2XP_016862307.1  intraflagellar transport protein 122 homolog isoform X2

  10. XM_017006819.2XP_016862308.1  intraflagellar transport protein 122 homolog isoform X3

  11. XM_017006820.2XP_016862309.1  intraflagellar transport protein 122 homolog isoform X4

  12. XM_017006823.2XP_016862312.1  intraflagellar transport protein 122 homolog isoform X9

  13. XM_017006824.2XP_016862313.1  intraflagellar transport protein 122 homolog isoform X10

  14. XM_017006825.2XP_016862314.1  intraflagellar transport protein 122 homolog isoform X11

  15. XM_017006826.2XP_016862315.1  intraflagellar transport protein 122 homolog isoform X12

  16. XM_006713689.2XP_006713752.1  intraflagellar transport protein 122 homolog isoform X5

    Conserved Domains (3) summary
    COG2319
    Location:4348
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:15190
    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 ...
  17. XM_006713691.3XP_006713754.1  intraflagellar transport protein 122 homolog isoform X6

    Conserved Domains (3) summary
    COG2319
    Location:4348
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:15190
    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 ...
  18. XM_017006821.2XP_016862310.1  intraflagellar transport protein 122 homolog isoform X7

  19. XM_005247609.2XP_005247666.1  intraflagellar transport protein 122 homolog isoform X13

    Conserved Domains (3) summary
    COG2319
    Location:15289
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:49291
    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 ...
  20. XM_006713692.3XP_006713755.1  intraflagellar transport protein 122 homolog isoform X14

    Conserved Domains (3) summary
    COG2319
    Location:15289
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:49291
    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_017006827.2XP_016862316.1  intraflagellar transport protein 122 homolog isoform X15

  22. XM_011512972.3XP_011511274.1  intraflagellar transport protein 122 homolog isoform X23

    Conserved Domains (3) summary
    COG2319
    Location:4348
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:15190
    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 ...
  23. XM_006713695.3XP_006713758.1  intraflagellar transport protein 122 homolog isoform X25

    Conserved Domains (3) summary
    COG2319
    Location:4348
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1551
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:15190
    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 ...
  24. XM_017006830.2XP_016862319.1  intraflagellar transport protein 122 homolog isoform X18

  25. XM_024453639.1XP_024309407.1  intraflagellar transport protein 122 homolog isoform X24

    Conserved Domains (1) summary
    cl26002
    Location:391599
    TPR_11; TPR repeat
  26. XM_017006836.2XP_016862325.1  intraflagellar transport protein 122 homolog isoform X22

  27. XM_017006832.1XP_016862321.1  intraflagellar transport protein 122 homolog isoform X18

  28. XM_017006838.2XP_016862327.1  intraflagellar transport protein 122 homolog isoform X27

  29. XM_017006837.1XP_016862326.1  intraflagellar transport protein 122 homolog isoform X26

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