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IFT81 intraflagellar transport 81 [ Homo sapiens (human) ]

Gene ID: 28981, updated on 4-Jan-2025

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; 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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC4027, MGC102777

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding PubMed 
enables tubulin binding  
enables tubulin binding PubMed 
Process Evidence Code Pubs
involved_in cilium assembly PubMed 
involved_in cilium assembly PubMed 
involved_in intraciliary anterograde transport PubMed 
involved_in intraciliary transport  
involved_in intraciliary transport involved in cilium assembly PubMed 
involved_in regulation of smoothened signaling pathway PubMed 
involved_in sperm flagellum assembly  
involved_in spermatogenesis  
Component Evidence Code Pubs
located_in centriole  
located_in centrosome  
is_active_in ciliary basal body  
located_in ciliary basal body PubMed 
located_in ciliary tip  
located_in cilium PubMed 
located_in cilium  
located_in cytoplasm  
part_of intraciliary transport particle B  
part_of intraciliary transport particle B PubMed 
part_of intraciliary transport particle B  
located_in motile cilium  
located_in sperm midpiece  
located_in sperm principal piece  

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)

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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_001143779.2NP_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
    Q2YDY1, Q8NB51, Q8WYA0, Q9BSV2, Q9UNY8
    UniProtKB/TrEMBL
    A8K4S8
    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/TrEMBL
    F8W1J4
    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
    Q2YDY1, Q8NB51, Q8WYA0, Q9BSV2, Q9UNY8
    UniProtKB/TrEMBL
    A8K4S8
    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/TrEMBL
    F8W1J4
    Related
    ENSP00000355372.4, ENST00000361948.8
    Conserved Domains (1) summary
    cl25732
    Location:169388
    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_017019217.2XP_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: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_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_054371853.1XP_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

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