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    IFT81 intraflagellar transport 81 [ Homo sapiens (human) ]

    Gene ID: 28981, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IFT81provided by HGNC
    Official Full Name
    intraflagellar transport 81provided by HGNC
    Primary source
    HGNC:HGNC:14313
    See related
    Ensembl:ENSG00000122970 MIM:605489; AllianceGenome:HGNC:14313
    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
    DV1; CDV1; CDV-1; CDV1R; CDV-1R; SRTD19
    Summary
    The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]
    Expression
    Broad expression in testis (RPKM 13.7), thyroid (RPKM 5.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IFT81 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110124357..110218793)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110100094..110196424)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110562162..110656598)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110480304-110480817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6993 Neighboring gene chromosome 12 open reading frame 76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6995 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3588 Neighboring gene uncharacterized LOC105369976 Neighboring gene Sharpr-MPRA regulatory region 13461 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110546777-110547368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110547369-110547960 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110610112-110610892 Neighboring gene MPRA-validated peak1945 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110661551-110662051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110695091-110695683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110706905-110707507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4854 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110719747-110720501 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6999 Neighboring gene Sharpr-MPRA regulatory region 3729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7000 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:110782389-110783588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110786998-110787545 Neighboring gene MPRA-validated peak1946 silencer Neighboring gene RNA, 7SL, cytoplasmic 769, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Perrault I, et al. J Med Genet, 2015 Oct. PMID 26275418, Free PMC Article
    2. IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. Dharmat R, et al. Invest Ophthalmol Vis Sci, 2017 May 1. PMID 28460050, Free PMC Article
    3. Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. Ashraf T, et al. Am J Med Genet A, 2020 Oct. PMID 32783357
    4. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Duran I, et al. Sci Rep, 2016 Sep 26. PMID 27666822, Free PMC Article
    5. Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Pettersson M, et al. Hum Mutat, 2018 Oct. PMID 30080953

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
      Title: Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
    2. Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
      Title: Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
    3. Our data highlights the importance of detection and careful characterization of intragenic duplication CNVs, presenting them as a novel and very rare genetic mechanism in IFT81-related Jeune syndrome and MATN3-related MED.
      Title: Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
    4. This represents the first report of mutations in IFT81 as a candidate gene for nonsyndromic retinal dystrophy, hence expanding the phenotype spectrum of IFT-B components.
      Title: IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.
    5. this study found that the two core intraflagellar transport proteins IFT74 and IFT81 form a tubulin-binding module and mapped the interaction to a calponin homology domain of IFT81 and a highly basic domain in IFT74.
      Title: Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.
    6. inconsistent expression levels of human CDV-1 and mouse Cdv-1 in heart implied that cardiac hypertrophy in human SCD might not be associated with the abnormal expression of CDV-1
      Title: Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation.
    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
    Short-rib thoracic dysplasia 19 with or without polydactyly
    MedGen: C4693524 OMIM: 617895 GeneReviews: Not available
    		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)

    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

    Clone Names

    • MGC4027, MGC102777

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intraciliary anterograde transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intraciliary transport involved in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm flagellum assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of intraciliary transport particle B IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 motile cilium ISS
    Inferred from Sequence or Structural Similarity
    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

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    Preferred Names
    intraflagellar transport protein 81 homolog
    Names
    carnitine deficiency-associated gene expressed in ventricle 1
    carnitine deficiency-associated protein expressed in ventricle 1

    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_052859.1 RefSeqGene

      Range
      5023..99459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001143779.2 → NP_001137251.1  intraflagellar transport protein 81 homolog isoform 1

      See identical proteins and their annotated locations for NP_001137251.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode isoform 1.
      Source sequence(s)
      AF139540, BP351086
      Consensus CDS
      CCDS41831.1
      UniProtKB/Swiss-Prot
      Q2YDY1, Q8NB51, Q8WYA0, Q9BSV2, Q9UNY8
      UniProtKB/TrEMBL
      A8K4S8
      Related
      ENSP00000449718.1, ENST00000552912.5
      Conserved Domains (2) summary
      TIGR02168
      Location:224 → 555
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR03752
      Location:170 → 250
      conj_TIGR03752; integrating conjugative element protein, PFL_4705 family

    2. NM_001347946.2 → NP_001334875.1  intraflagellar transport protein 81 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 2, encodes isoform 2.
      Source sequence(s)
      AC007546
      Consensus CDS
      CCDS9142.1
      UniProtKB/TrEMBL
      F8W1J4
      Related
      ENSP00000446950.1, ENST00000546374.5
      Conserved Domains (1) summary
      cl25732
      Location:169 → 388
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001347947.2 → NP_001334876.1  intraflagellar transport protein 81 homolog isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 6, encodes isoform 3.
      Source sequence(s)
      AC007546, AC009730
      Conserved Domains (1) summary
      cl25732
      Location:30 → 312
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_001347948.2 → NP_001334877.1  intraflagellar transport protein 81 homolog isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 5, encodes isoform 3.
      Source sequence(s)
      AC007546, AC009730
      Conserved Domains (1) summary
      cl25732
      Location:30 → 312
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_014055.4 → NP_054774.2  intraflagellar transport protein 81 homolog isoform 1

      See identical proteins and their annotated locations for NP_054774.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 3 both encode isoform 1.
      Source sequence(s)
      AF332010, BP351086
      Consensus CDS
      CCDS41831.1
      UniProtKB/Swiss-Prot
      Q2YDY1, Q8NB51, Q8WYA0, Q9BSV2, Q9UNY8
      UniProtKB/TrEMBL
      A8K4S8
      Related
      ENSP00000242591.5, ENST00000242591.10
      Conserved Domains (2) summary
      TIGR02168
      Location:224 → 555
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR03752
      Location:170 → 250
      conj_TIGR03752; integrating conjugative element protein, PFL_4705 family

    6. NM_031473.4 → NP_113661.2  intraflagellar transport protein 81 homolog isoform 2

      See identical proteins and their annotated locations for NP_113661.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 4 both encode isoform 2.
      Source sequence(s)
      AC007546, AF332010, BC108257, BP351086
      Consensus CDS
      CCDS9142.1
      UniProtKB/TrEMBL
      F8W1J4
      Related
      ENSP00000355372.4, ENST00000361948.8
      Conserved Domains (1) summary
      cl25732
      Location:169 → 388
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_144949.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007546, AC009730

    2. NR_144950.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007546, AC009730

    3. NR_144951.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007546, AC009730

    4. NR_144952.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007546, AC009730

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      110124357..110218793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019217.2 → XP_016874706.1  intraflagellar transport protein 81 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q2YDY1, Q8NB51, Q8WYA0, Q9BSV2, Q9UNY8
      UniProtKB/TrEMBL
      A8K4S8
      Conserved Domains (2) summary
      TIGR02168
      Location:224 → 555
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR03752
      Location:170 → 250
      conj_TIGR03752; integrating conjugative element protein, PFL_4705 family

    RNA

    1. XR_007063070.1 RNA Sequence

    2. XR_001748670.3 RNA Sequence

    3. XR_944523.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      110100094..110196424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371853.1 → XP_054227828.1  intraflagellar transport protein 81 homolog isoform X1

      UniProtKB/Swiss-Prot
      Q2YDY1, Q8NB51, Q8WYA0, Q9BSV2, Q9UNY8
      UniProtKB/TrEMBL
      A8K4S8

    RNA

    1. XR_008488568.1 RNA Sequence

    2. XR_008488570.1 RNA Sequence

    3. XR_008488569.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WYA0.1 GenPept UniProtKB/Swiss-Prot:Q8WYA0

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