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    IFT122 intraflagellar transport 122 [ Homo sapiens (human) ]

    Gene ID: 55764, updated on 9-Jul-2021

    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; FAP80; 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
    NEW
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    Try the new Transcript table

    Genomic context

    See IFT122 in Genome Data Viewer
    Location:
    3q21.3-q22.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (129440075..129520507)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129159067..129239350)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes 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 Sharpr-MPRA regulatory region 10640 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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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 camera-type eye morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic body morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic heart tube development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intraciliary retrograde transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intraciliary transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in limb development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    Component Evidence Code Pubs
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in 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)

    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_023392.1 RefSeqGene

      Range
      5100..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_001280545.2NP_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
      UniProtKB/Swiss-Prot
      Q9HBG6
      UniProtKB/TrEMBL
      B3KUD1
      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_001280546.2NP_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
      UniProtKB/Swiss-Prot
      Q9HBG6
      UniProtKB/TrEMBL
      B3KUD1, B4DST2
      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
      ENSP00000324005.4, ENST00000348417.7
      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 Updated Annotation Release 109.20210514

    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
      129440075..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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