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IFT172 intraflagellar transport 172 [ Homo sapiens (human) ]

Gene ID: 26160, updated on 8-Jul-2018
Official Symbol
IFT172provided by HGNC
Official Full Name
intraflagellar transport 172provided by HGNC
Primary source
HGNC:HGNC:30391
See related
Ensembl:ENSG00000138002 MIM:607386; Vega:OTTHUMG00000128425
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
See IFT172 in Genome Data Viewer
Location:
2p23.3
Exon count:
52
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (27444373..27489819, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27667240..27712575, 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Nephronophthisis
MedGen: C0687120 GeneReviews: Nephronophthisis
Compare labs
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

NHGRI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
  • 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 ...
  • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
    Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
    Hedgehog signaling events mediated by Gli proteins
  • 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 ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1179, DKFZp434A163

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
bone development IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IDA
Inferred from Direct Assay
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic microtubule organization IEA
Inferred from Electronic Annotation
more info
 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
epidermis development IEA
Inferred from Electronic Annotation
more info
 
heart looping IEA
Inferred from Electronic Annotation
more info
 
hindgut development IEA
Inferred from Electronic Annotation
more info
 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
limb development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein processing IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium TAS
Traceable Author Statement
more info
 
extracellular vesicle HDA PubMed 
intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm cytoplasmic droplet IEA
Inferred from Electronic Annotation
more info
 
sperm midpiece IEA
Inferred from Electronic Annotation
more info
 
sperm principal piece IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
intraflagellar transport protein 172 homolog
Names
intraflagellar transport 172 homolog
selective LIM binding factor homolog
wimple homolog

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
    5001..50439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015662.2NP_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, OTTHUMP00000158532, ENST00000260570.7, OTTHUMT00000250213
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 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

    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

    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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