Format

Send to:

Choose Destination

IFT172 intraflagellar transport 172 [ Homo sapiens (human) ]

Gene ID: 26160, updated on 26-Nov-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
Try the new Gene table
Try the new Transcript table

Genomic context

See IFT172 in Genome Data Viewer
Location:
2p23.3
Exon count:
52
Annotation release Status Assembly Chr Location
109.20211119 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bardet-Biedl syndrome 20
MedGen: C4310707 OMIM: 619471 GeneReviews: Not available
Compare labs
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 IPI
Inferred from Physical Interaction
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 109.20211119

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

    Conserved Domains (4) summary
    cd15832
    Location:768823
    SNAP; TPR repeat [structural motif]
    sd00039
    Location:243
    7WD40; WD40 repeat [structural motif]
    cl24038
    Location:765951
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    cl29593
    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 ...
  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

Support Center