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    IFT172 intraflagellar transport 172 [ Homo sapiens (human) ]

    Gene ID: 26160, updated on 8-Jul-2021

    Summary

    Official Symbol
    IFT172provided by HGNC
    Official Full Name
    intraflagellar transport 172provided by HGNC
    Primary source
    HGNC:HGNC:30391
    See related
    Ensembl:ENSG00000138002 MIM:607386
    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
    SLB; wim; RP71; BBS20; osm-1; NPHP17; SRTD10
    Summary
    This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
    Expression
    Broad expression in testis (RPKM 10.6), ovary (RPKM 4.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IFT172 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27444373..27489819, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27667244..27712610, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1G Neighboring gene ferritin heavy chain 1 pseudogene 3 Neighboring gene nuclear receptor binding protein 1 Neighboring gene keratinocyte associated protein 3 Neighboring gene RNA, U6 small nuclear 986, pseudogene Neighboring gene fibronectin type III domain containing 4 Neighboring gene glucokinase regulator

    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

    Phenotypes

    Associated conditions

    Description Tests
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    GeneReviews: Not available
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    GeneReviews: Not available
    Nephronophthisis
    MedGen: C0687120 GeneReviews: Nephronophthisis
    Compare labs
    New loci associated with kidney function and chronic kidney disease.
    GeneReviews: Not available
    Retinitis pigmentosa 71
    MedGen: C4225342 OMIM: 616394 GeneReviews: Not available
    Compare labs
    Short-rib thoracic dysplasia 10 with or without polydactyly
    MedGen: C3810175 OMIM: 615630 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1179, DKFZp434A163

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoplasmic microtubule organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermis development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hindgut development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in left/right axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in extracellular vesicle HDA PubMed 
    part_of intraciliary transport particle B IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of intraciliary transport particle B ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sperm cytoplasmic droplet IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sperm midpiece IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sperm principal piece IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    intraflagellar transport protein 172 homolog
    Names
    intraflagellar transport 172 homolog
    selective LIM binding factor homolog
    wimple 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_034068.1 RefSeqGene

      Range
      5069..50435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015662.3NP_056477.1  intraflagellar transport protein 172 homolog

      See identical proteins and their annotated locations for NP_056477.1

      Status: REVIEWED

      Source sequence(s)
      BC047294, BC137126, DC394416
      Consensus CDS
      CCDS1755.1
      UniProtKB/Swiss-Prot
      Q9UG01
      Related
      ENSP00000260570.3, ENST00000260570.8
      Conserved Domains (5) summary
      COG2319
      Location:17388
      WD40; WD40 repeat [General function prediction only]
      cd15832
      Location:811866
      SNAP; TPR repeat [structural motif]
      sd00039
      Location:2064
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:17318
      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 ...
      cl24038
      Location:808994
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

    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_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      27444373..27489819 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003790.1XP_016859279.1  intraflagellar transport protein 172 homolog isoform X4

    2. XM_006711986.3XP_006712049.1  intraflagellar transport protein 172 homolog isoform X1

      Related
      ENST00000507184.5
      Conserved Domains (5) summary
      COG2319
      Location:1284
      WD40; WD40 repeat [General function prediction only]
      cd15832
      Location:790845
      SNAP; TPR repeat [structural motif]
      sd00039
      Location:243
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:1297
      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 ...
      cl24038
      Location:787973
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    3. XM_017003791.1XP_016859280.1  intraflagellar transport protein 172 homolog isoform X5

      Conserved Domains (2) summary
      cd15832
      Location:584639
      SNAP; TPR repeat [structural motif]
      cl24038
      Location:581767
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    4. XM_011532757.2XP_011531059.1  intraflagellar transport protein 172 homolog isoform X5

      Conserved Domains (2) summary
      cd15832
      Location:584639
      SNAP; TPR repeat [structural motif]
      cl24038
      Location:581767
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    5. XM_017003795.1XP_016859284.1  intraflagellar transport protein 172 homolog isoform X11

    6. XM_005264254.1XP_005264311.1  intraflagellar transport protein 172 homolog isoform X2

      Related
      ENSP00000502283.1, ENST00000675690.1
      Conserved Domains (5) summary
      COG2319
      Location:17388
      WD40; WD40 repeat [General function prediction only]
      cd15832
      Location:789844
      SNAP; TPR repeat [structural motif]
      sd00039
      Location:2064
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:17318
      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 ...
      cl24038
      Location:786972
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    7. XM_006711987.1XP_006712050.1  intraflagellar transport protein 172 homolog isoform X3

      Conserved Domains (5) summary
      COG2319
      Location:17388
      WD40; WD40 repeat [General function prediction only]
      cd15832
      Location:811866
      SNAP; TPR repeat [structural motif]
      sd00039
      Location:2064
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:17318
      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 ...
      cl24038
      Location:808994
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    8. XM_017003793.1XP_016859282.1  intraflagellar transport protein 172 homolog isoform X9

    9. XM_017003794.1XP_016859283.1  intraflagellar transport protein 172 homolog isoform X9

    10. XM_011532759.2XP_011531061.1  intraflagellar transport protein 172 homolog isoform X8

      Conserved Domains (2) summary
      cd15832
      Location:291346
      SNAP; TPR repeat [structural motif]
      cl24038
      Location:288474
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    11. XM_011532760.2XP_011531062.1  intraflagellar transport protein 172 homolog isoform X10

      Conserved Domains (2) summary
      cd15832
      Location:166221
      SNAP; TPR repeat [structural motif]
      cl24038
      Location:163349
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    12. XM_017003792.1XP_016859281.1  intraflagellar transport protein 172 homolog isoform X7

    13. XM_011532758.1XP_011531060.1  intraflagellar transport protein 172 homolog isoform X6

      Conserved Domains (5) summary
      COG2319
      Location:17388
      WD40; WD40 repeat [General function prediction only]
      cd15832
      Location:811866
      SNAP; TPR repeat [structural motif]
      sd00039
      Location:2064
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:17318
      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 ...
      cl24038
      Location:808994
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

    RNA

    1. XR_001738698.1 RNA Sequence

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