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    IFT122 intraflagellar transport 122 [ Homo sapiens (human) ]

    Gene ID: 55764, updated on 28-Oct-2024

    Summary

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    Official Symbol
    IFT122provided by HGNC
    Official Full Name
    intraflagellar transport 122provided by HGNC
    Primary source
    HGNC:HGNC:13556
    See related
    Ensembl:ENSG00000163913 MIM:606045; AllianceGenome:HGNC:13556
    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; CFAP80; 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
    mouse all
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    Genomic context

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    See IFT122 in Genome Data Viewer
    Location:
    3q21.3-q22.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129440224..129520507)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (132185050..132264949)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129159067..129239350)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129129626-129130126 Neighboring gene EF-hand calcium binding domain 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129137243-129137742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20517 Neighboring gene methyl-CpG binding domain 4, DNA glycosylase Neighboring gene Sharpr-MPRA regulatory region 8693 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:129168229-129168945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129200162-129201039 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:129208521-129208729 Neighboring gene Sharpr-MPRA regulatory region 10640 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129213542-129214741 Neighboring gene MPRA-validated peak4826 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129247433-129248158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129248159-129248884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:129253999-129254668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129261557-129262058 Neighboring gene rhodopsin enhancer region Neighboring gene Sharpr-MPRA regulatory region 2951 Neighboring gene rhodopsin Neighboring gene H1.8 linker histone

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. Moosa S, et al. Am J Med Genet A, 2016 May. PMID 26792575
    2. Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. Silveira KC, et al. Am J Med Genet A, 2017 May. PMID 28370949
    3. Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. Tsurusaki Y, et al. Clin Genet, 2014 Jun. PMID 23826986
    4. Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene. Bhattacharjee S, et al. Neurosciences (Riyadh), 2017 Oct. PMID 29057857, Free PMC Article
    5. Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis. Gross C, et al. DNA Cell Biol, 2001 Jan. PMID 11242542

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study demonstrated that the mutation in SPG 7 gene caused autosomal recessive hereditary spastic paraparesis.
      Title: Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.
    2. The C11ORF74, interacts with the IFT-A complex via the IFT122 subunit and is accumulated at the distal tip in the absence of an IFT-A subunit IFT139, suggesting that at least a fraction of C11ORF74 molecules can be transported towards the ciliary tip by associating with the IFT-A complex, although its majority might be out of cilia at steady state.
      Title: C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization.
    3. IFT122 mutations associated with cranioectodermal dysplasia 1 cause defects in ciliary protein trafficking, but not ciliogenesis when expressed in cells lacking endogenous IFT122 (IFT122 KO).
      Title: Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.
    4. All the nine probands with syndromic craniosynostosis were found to carry the possibly causative variants, among which three variants including two missense mutations in IFT122 gene, in SMC1A gene and a frameshift mutation in TWIST1 gene have never been reported in patients before.
      Title: Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
    5. Using a panel of skeletal dysplasias genes, including 11 related to SRP, we identified biallelic mutations in IFT122 in a fetus with a typical phenotype of SRP-IV, finally confirmed that this phenotype is a ciliopathy and adding to the list of ciliopathies with major skeletal involvement.
      Title: Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
    6. The three patients had different, novel, compound heterozygous mutations in IFT122. Consequently, we compared these three patients to those previously described with IFT122 mutations. Thus, our report serves to add 6 novel mutations to the IFT122 mutation spectrum and to contribute to the IFT122-related clinical characterization.
      Title: Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
    7. this study was able to find causative IFT122 mutations in a non-consanguineous family with recurrent abortions.
      Title: Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
    8. we found a homozygous missense mutation in the IFT122 (WDR10) gene that cosegregated with Sensenbrenner syndrome
      Title: Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cranioectodermal dysplasia 1
    MedGen: C0432235 OMIM: 218330 GeneReviews: Cranioectodermal Dysplasia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in embryonic body morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in embryonic forelimb 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 embryonic heart tube left/right pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in establishment of protein localization to organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intraciliary anterograde transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intraciliary retrograde transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intraciliary retrograde transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    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 spinal cord dorsal/ventral patterning ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    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 membrane HDA PubMed 
    is_active_in non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    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)

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    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_001280541.2 → NP_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/TrEMBL
      A0A8I5KP73
      Related
      ENSP00000425536.1, ENST00000507564.5
      Conserved Domains (3) summary
      COG2319
      Location:4 → 340
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:15 → 51
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:49 → 341
      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_001280545.2 → NP_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/TrEMBL
      B4DST2
      Conserved Domains (3) summary
      COG2319
      Location:2 → 200
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:133 → 167
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:134 → 200
      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_001280546.2 → NP_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/TrEMBL
      B4DST2
      Related
      ENSP00000509186.1, ENST00000693233.1
      Conserved Domains (3) summary
      COG2319
      Location:24 → 141
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:30 → 64
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:24 → 142
      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_001410808.1 → NP_001397737.1  intraflagellar transport protein 122 homolog isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC080007, AL449212
      Consensus CDS
      CCDS93372.1
      UniProtKB/TrEMBL
      A0A8I5KSG5
      Related
      ENSP00000509878.1, ENST00000692242.1

    5. NM_001410809.1 → NP_001397738.1  intraflagellar transport protein 122 homolog isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC080007, AL449212
      Consensus CDS
      CCDS93374.1
      UniProtKB/TrEMBL
      A0A8I5KVC7
      Related
      ENSP00000509806.1, ENST00000693129.1

    6. NM_001410810.1 → NP_001397739.1  intraflagellar transport protein 122 homolog isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC080007, AL449212
      Consensus CDS
      CCDS93375.1
      UniProtKB/TrEMBL
      A0A8I5KWK4
      Related
      ENSP00000510425.1, ENST00000689332.1

    7. NM_001410811.1 → NP_001397740.1  intraflagellar transport protein 122 homolog isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC080007, AL449212
      Consensus CDS
      CCDS93376.1
      UniProtKB/TrEMBL
      A0A8I5QKX8
      Related
      ENSP00000509982.1, ENST00000689801.1

    8. NM_001410813.1 → NP_001397742.1  intraflagellar transport protein 122 homolog isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC080007, AL449212
      Consensus CDS
      CCDS93377.1
      UniProtKB/TrEMBL
      A0A8I5KTL4
      Related
      ENSP00000510741.1, ENST00000691583.1

    9. NM_001410815.1 → NP_001397744.1  intraflagellar transport protein 122 homolog isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC080007, AL449212
      Consensus CDS
      CCDS93379.1
      UniProtKB/TrEMBL
      A0A8I5KT04
      Related
      ENSP00000509216.1, ENST00000693588.1

    10. NM_001410817.1 → NP_001397746.1  intraflagellar transport protein 122 homolog isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC080007, AL449212
      Consensus CDS
      CCDS93380.1
      UniProtKB/TrEMBL
      A0A8J9A3C6
      Related
      ENSP00000422179.2, ENST00000504021.6

    11. NM_018262.4 → NP_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/TrEMBL
      A0A8I5KSV0
      Related
      ENSP00000323973.3, ENST00000347300.6
      Conserved Domains (3) summary
      COG2319
      Location:15 → 289
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:15 → 51
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:49 → 291
      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. NM_052985.4 → NP_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/TrEMBL
      A0A8I5KP73
      Related
      ENSP00000296266.3, ENST00000296266.7
      Conserved Domains (3) summary
      COG2319
      Location:15 → 240
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:15 → 51
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:12 → 241
      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. NM_052989.3 → NP_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
      B3KW53, B4DEY9, B4DPW7, E7EQF4, E9PDG2, E9PDX2, G3XAB1, H7C3C0, Q53G36, Q8TC06, Q9BTB9, Q9BTY4, Q9HAT9, Q9HBG5, Q9HBG6, Q9NV68, Q9UF80
      UniProtKB/TrEMBL
      A0A8I5QKV2
      Related
      ENSP00000324005.4, ENST00000348417.7
      Conserved Domains (3) summary
      COG2319
      Location:4 → 348
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:15 → 51
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15 → 190
      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 ...

    14. NM_052990.3 → NP_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/TrEMBL
      A0A8I5QL25
      Related
      ENSP00000324165.3, ENST00000349441.6
      Conserved Domains (3) summary
      COG2319
      Location:15 → 237
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:15 → 51
      7WD40; WD40 repeat [structural motif]
      cl26002
      Location:599 → 807
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      129440224..129520507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713691.4 → XP_006713754.1  intraflagellar transport protein 122 homolog isoform X1

      UniProtKB/TrEMBL
      A0A8I5KXT5, A0A8I5QKV2
      Related
      ENSP00000509225.1, ENST00000687377.1
      Conserved Domains (3) summary
      COG2319
      Location:4 → 348
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:15 → 51
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15 → 190
      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. XM_047448546.1 → XP_047304502.1  intraflagellar transport protein 122 homolog isoform X2

    3. XM_047448547.1 → XP_047304503.1  intraflagellar transport protein 122 homolog isoform X3

      UniProtKB/TrEMBL
      A0A8I5KUU2
      Related
      ENSP00000508904.1, ENST00000688020.1

    4. XM_047448548.1 → XP_047304504.1  intraflagellar transport protein 122 homolog isoform X4

    5. XM_047448549.1 → XP_047304505.1  intraflagellar transport protein 122 homolog isoform X5

    6. XM_017006834.3 → XP_016862323.1  intraflagellar transport protein 122 homolog isoform X6

      UniProtKB/TrEMBL
      A0A8I5QKR8, A0A8I5QL25
      Related
      ENSP00000509297.1, ENST00000690663.1

    7. XM_047448552.1 → XP_047304508.1  intraflagellar transport protein 122 homolog isoform X7

    8. XM_011512972.4 → XP_011511274.1  intraflagellar transport protein 122 homolog isoform X8

      UniProtKB/TrEMBL
      A0A8I5KNX7
      Related
      ENSP00000508811.1, ENST00000690723.1
      Conserved Domains (3) summary
      COG2319
      Location:4 → 348
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:15 → 51
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15 → 190
      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_006713695.4 → XP_006713758.1  intraflagellar transport protein 122 homolog isoform X9

      UniProtKB/TrEMBL
      A0A8I5KS91
      Related
      ENSP00000508642.1, ENST00000685282.1
      Conserved Domains (3) summary
      COG2319
      Location:4 → 348
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:15 → 51
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:15 → 190
      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_047448553.1 → XP_047304509.1  intraflagellar transport protein 122 homolog isoform X10

      Related
      ENSP00000509155.1, ENST00000685447.1

    11. XM_047448551.1 → XP_047304507.1  intraflagellar transport protein 122 homolog isoform X7

    12. XM_047448554.1 → XP_047304510.1  intraflagellar transport protein 122 homolog isoform X11

      Related
      ENSP00000508740.1, ENST00000688527.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      132185050..132264949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347220.1 → XP_054203195.1  intraflagellar transport protein 122 homolog isoform X1

    2. XM_054347221.1 → XP_054203196.1  intraflagellar transport protein 122 homolog isoform X2

    3. XM_054347222.1 → XP_054203197.1  intraflagellar transport protein 122 homolog isoform X3

    4. XM_054347223.1 → XP_054203198.1  intraflagellar transport protein 122 homolog isoform X4

    5. XM_054347224.1 → XP_054203199.1  intraflagellar transport protein 122 homolog isoform X5

    6. XM_054347225.1 → XP_054203200.1  intraflagellar transport protein 122 homolog isoform X6

    7. XM_054347227.1 → XP_054203202.1  intraflagellar transport protein 122 homolog isoform X7

    8. XM_054347228.1 → XP_054203203.1  intraflagellar transport protein 122 homolog isoform X8

    9. XM_054347229.1 → XP_054203204.1  intraflagellar transport protein 122 homolog isoform X9

    10. XM_054347230.1 → XP_054203205.1  intraflagellar transport protein 122 homolog isoform X10

    11. XM_054347226.1 → XP_054203201.1  intraflagellar transport protein 122 homolog isoform X7

    12. XM_054347231.1 → XP_054203206.1  intraflagellar transport protein 122 homolog isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HBG6.2 GenPept UniProtKB/Swiss-Prot:Q9HBG6

    Gene LinkOut

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