IFT27 intraflagellar transport 27 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IFT27provided by HGNC
Official Full Name: intraflagellar transport 27provided by HGNC
Primary source: HGNC:HGNC:18626
See related: Ensembl:ENSG00000100360 MIM:615870; AllianceGenome:HGNC:18626
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: RAYL; BBS19; RABL4; FAP156; CFAP156
Summary: This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Expression: Ubiquitous expression in testis (RPKM 6.3), prostate (RPKM 5.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (36758211..36776119, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (37214144..37232056, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (37154255..37172163, complement)

Chromosome 22 - NC_000022.11 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: 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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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.
Loss of function IFT27 is associated with lethal fetal ciliopathy with renal agenesis.
Title: Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
Study coupled human genetics with functional validation in zebrafish and identified IFT27 as a novel BBS gene (BBS19).
Title: IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

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
Bardet-Biedl syndrome 19 MedGen: C3889475 OMIM: 615996 GeneReviews: Bardet-Biedl Syndrome Overview	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

WI-15209 (e-PCR)
- UniSTS:42805

STS-T69764 (e-PCR)
- UniSTS:47426

RH45587 (e-PCR)
- UniSTS:72174

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in cochlea development	IEA Inferred from Electronic Annotation more info
involved_in inner ear receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	ISS Inferred from Sequence or Structural Similarity more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in ciliary tip	TAS Traceable Author Statement more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay 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 motile cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in sperm flagellum	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 27 homolog

Names: RAB, member of RAS oncogene family-like 4; rab-like protein 4

NP_001171172.1

EC 3.6.5.2

NP_001349932.1

EC 3.6.5.2

NP_006851.1

EC 3.6.5.2

XP_047297030.1

EC 3.6.5.2

XP_054180970.1

EC 3.6.5.2

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_034205.1 RefSeqGene

Range

5015..22923

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001177701.3 → NP_001171172.1 intraflagellar transport protein 27 homolog isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 5 encode isoform 1.

Source sequence(s)

BC000566, DB457924

Consensus CDS

CCDS54523.1

UniProtKB/Swiss-Prot

O60897, Q9BW83

Related

ENSP00000393541.2, ENST00000433985.7

Conserved Domains (1) summary

cd04101
Location:6 → 172

RabL4; Rab GTPase-like family 4 (Rab-like4)
NM_001363003.2 → NP_001349932.1 intraflagellar transport protein 27 homolog isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Both variants 1 and 5 encode isoform 1.

Source sequence(s)

Z80897

Consensus CDS

CCDS54523.1

UniProtKB/Swiss-Prot

O60897, Q9BW83

Conserved Domains (1) summary

cd04101
Location:6 → 172

RabL4; Rab GTPase-like family 4 (Rab-like4)
NM_006860.5 → NP_006851.1 intraflagellar transport protein 27 homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.

Source sequence(s)

AL022729, DB457924

Consensus CDS

CCDS13932.1

UniProtKB/Swiss-Prot

Q9BW83

Related

ENSP00000343593.5, ENST00000340630.9

Conserved Domains (2) summary

cd04101
Location:6 → 171

RabL4; Rab GTPase-like family 4 (Rab-like4)

pfam00071
Location:9 → 169

Ras; Ras family

RNA

NR_033531.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) shares the same 5' exon, lacks the remaining exons, and includes an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks most of the coding region, as in variant 1, and it does not have any significant coding potential.

Source sequence(s)

AI215119, AW236857, DB457924, DB502180

Related

ENST00000476548.1

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_000022.11 Reference GRCh38.p14 Primary Assembly

Range

36758211..36776119 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441074.1 → XP_047297030.1 intraflagellar transport protein 27 homolog isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

37214144..37232056 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324995.1 → XP_054180970.1 intraflagellar transport protein 27 homolog isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001177702.1: Suppressed sequence

Description

NM_001177702.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.