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IFT81 intraflagellar transport 81 [ Homo sapiens (human) ]

Gene ID: 28981, updated on 17-Jun-2019

Summary

Official Symbol
IFT81provided by HGNC
Official Full Name
intraflagellar transport 81provided by HGNC
Primary source
HGNC:HGNC:14313
See related
Ensembl:ENSG00000122970 MIM:605489
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

Genomic context

See IFT81 in Genome Data Viewer
Location:
12q24.11
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (110124335..110218795)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110562140..110656600)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 76 Neighboring gene uncharacterized LOC105369976 Neighboring gene Sharpr-MPRA regulatory region 13461 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Neighboring gene RNA, 7SL, cytoplasmic 769, pseudogene

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

Pathways from BioSystems

  • 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...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4027, MGC102777

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport involved in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium TAS
Traceable Author Statement
more info
 
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
 
motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm midpiece IEA
Inferred from Electronic Annotation
more info
 
sperm principal piece IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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
    5001..99461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143779.2NP_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
    Q8WYA0
    UniProtKB/TrEMBL
    A0A024RBJ1
    Related
    ENSP00000449718.1, ENST00000552912.5
    Conserved Domains (2) summary
    TIGR02168
    Location:224555
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR03752
    Location:170250
    conj_TIGR03752; integrating conjugative element protein, PFL_4705 family
  2. NM_001347946.2NP_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/Swiss-Prot
    Q8WYA0
    Related
    ENSP00000446950.1, ENST00000546374.5
    Conserved Domains (1) summary
    cl25732
    Location:169388
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001347947.2NP_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:30312
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001347948.2NP_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:30312
    SMC_N; RecF/RecN/SMC N terminal domain
  5. NM_014055.4NP_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
    Q8WYA0
    UniProtKB/TrEMBL
    A0A024RBJ1
    Related
    ENSP00000242591.5, ENST00000242591.10
    Conserved Domains (2) summary
    TIGR02168
    Location:224555
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR03752
    Location:170250
    conj_TIGR03752; integrating conjugative element protein, PFL_4705 family
  6. NM_031473.4NP_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/Swiss-Prot
    Q8WYA0
    Related
    ENSP00000355372.4, ENST00000361948.8
    Conserved Domains (1) summary
    cl25732
    Location:169388
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. NR_144949.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007546, AC009730
  2. NR_144950.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007546, AC009730
  3. NR_144951.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007546, AC009730
  4. NR_144952.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007546, AC009730

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    110124335..110218795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q8WYA0
    UniProtKB/TrEMBL
    A0A024RBJ1
    Conserved Domains (2) summary
    TIGR02168
    Location:224555
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR03752
    Location:170250
    conj_TIGR03752; integrating conjugative element protein, PFL_4705 family

RNA

  1. XR_001748670.2 RNA Sequence

  2. XR_001748672.2 RNA Sequence

  3. XR_429093.3 RNA Sequence

  4. XR_944523.3 RNA Sequence

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