IFT81 intraflagellar transport 81 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Title: Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483668

RH103055 (e-PCR)
- UniSTS:97389

RH81042 (e-PCR)
- UniSTS:84732

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

NG_052859.1 RefSeqGene

Range

5023..99459

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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

NR_144949.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007546, AC009730
NR_144950.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007546, AC009730
NR_144951.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007546, AC009730
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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

110124357..110218793

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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