KIF17 kinesin family member 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIF17provided by HGNC
Official Full Name: kinesin family member 17provided by HGNC
Primary source: HGNC:HGNC:19167
See related: Ensembl:ENSG00000117245 MIM:605037; AllianceGenome:HGNC:19167
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KIF3X; KLP-2; OSM-3; KIF17B
Summary: Predicted to enable microtubule binding activity and plus-end-directed microtubule motor activity. Predicted to be involved in anterograde dendritic transport of neurotransmitter receptor complex and cell projection organization. Predicted to act upstream of or within microtubule-based process; protein-containing complex localization; and vesicle-mediated transport. Predicted to be located in microtubule cytoskeleton. Predicted to be part of intraciliary transport particle B and kinesin complex. Predicted to be active in cilium; microtubule cytoskeleton; and neuron projection. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 11.7), spleen (RPKM 7.5) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (20661630..20718007, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (20487429..20544577, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (20990507..21044500, complement)

Chromosome 1 - NC_000001.11 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: 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?

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
Title: Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
The rate of transport is set by an equilibrium between a faster state, where only kinesin family member 17 protein (KIF17) motors move the train, and a slower state, where at least one kinesin family member 3A/B protein (KIF3AB) motor on the train remains active in transport.
Title: Intraflagellar transport velocity is governed by the number of active KIF17 and KIF3AB motors and their motility properties under load.
In mammalian cells, KIF17 is dispensable for ciliogenesis and IFT-B trafficking but requires IFT-B, as well as its NLS, for its ciliary entry across the permeability barrier located at the ciliary base.
Title: Ciliary entry of KIF17 is dependent on its binding to the IFT-B complex via IFT46-IFT56 as well as on its nuclear localization signal.
The first evidence of an interaction between septins and a nonmitotic kinesin is provided and it is suggested that SEPT9 modulates the interactions of KIF17 with membrane cargo.
Title: Septin 9 interacts with kinesin KIF17 and interferes with the mechanism of NMDA receptor cargo binding and transport.
KIF17 can modify RhoA-GTPase signaling to influence junctional actin and the stability of the apical junctional complex of epithelial cells.
Title: KIF17 regulates RhoA-dependent actin remodeling at epithelial cell-cell adhesions.
Expression of KIF17 in schizophrenic postmortem brains was significantly lower than controls. Both genotypic distribution and allelic frequency of rs2296225 polymorphism were significantly different between the chronic schizophrenia subjects and controls.
Title: A decrease in protein level and a missense polymorphism of KIF17 are associated with schizophrenia.
although EB1 and KIF17-Tail may coordinate KIF17 catalytic activity, our data reveal a novel and direct role for KIF17 in regulating MT dynamics.
Title: Direct regulation of microtubule dynamics by KIF17 motor and tail domains.
This study suggested that disruption of KIF17, although rare, could result in a schizophrenia phenotype and emphasize the possible involvement of rare de novo mutations in this disorder.
Title: De novo truncating mutation in Kinesin 17 associated with schizophrenia.
Depletion of KIF17 from cells growing in three-dimensional matrices results in aberrant epithelial cysts that fail to generate a single central lumen and to polarize apical markers.
Title: KIF17 stabilizes microtubules and contributes to epithelial morphogenesis by acting at MT plus ends with EB1 and APC.
Data show that the homodimeric kinesin-2 motor KIF17 is kept in an inactive state in the absence of cargo, and define two molecular mechanisms that contribute to autoinhibition of KIF17.
Title: Autoinhibition of the kinesin-2 motor KIF17 via dual intramolecular mechanisms.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

EBI GWAS Catalog

Description
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of kinesin family member 17 (KIF17) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The gene expression of kinesin family member 17 is significantly upregulated in clade B treated SK-N-MC neuroblastoma cells but downregulated in clade C Tat treated SK-N-MC neuroblastoma cells	PubMed

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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

REN87674 (e-PCR)
- UniSTS:412472

SHGC-148244 (e-PCR)
- UniSTS:176280

SHGC-74334 (e-PCR)
- UniSTS:27302

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables plus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in anterograde dendritic transport of neurotransmitter receptor complex	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell projection organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axoneme	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite cytoplasm	IEA Inferred from Electronic Annotation more info
part_of kinesin complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in periciliary membrane compartment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor connecting cilium	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kinesin-like protein KIF17

Names: KIF17 variant protein; KIF3-related motor protein

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.

mRNA and Protein(s)

NM_001122819.3 → NP_001116291.1 kinesin-like protein KIF17 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.

Source sequence(s)

AL663074, AY484427, BC040639, BC065927, BX387401

Consensus CDS

CCDS44079.1

UniProtKB/TrEMBL

B0I1R5

Related

ENSP00000383311.3, ENST00000400463.8

Conserved Domains (2) summary

cl22853
Location:4 → 335

Motor_domain; Myosin and Kinesin motor domain

pfam00225
Location:11 → 335

Kinesin; Kinesin motor domain
NM_001287212.2 → NP_001274141.1 kinesin-like protein KIF17 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AB037826, AL663074, AY484427, BC040639, BC065927, BX387401

Consensus CDS

CCDS72722.1

UniProtKB/TrEMBL

A0A0A0MRS8, B0I1R5

Related

ENSP00000364184.1, ENST00000375044.5

Conserved Domains (2) summary

cl22853
Location:1 → 235

Motor_domain; Myosin and Kinesin motor domain

pfam00225
Location:1 → 235

Kinesin; Kinesin motor domain
NM_020816.4 → NP_065867.2 kinesin-like protein KIF17 isoform a

See identical proteins and their annotated locations for NP_065867.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AL663074, AY484427, BC040639, BC065927, BX387401

Consensus CDS

CCDS213.1

UniProtKB/Swiss-Prot

A2A3Q7, A2A3Q8, O95077, Q53YS6, Q5VWA9, Q6GSA8, Q8N411, Q9P2E2

UniProtKB/TrEMBL

B0I1R5

Related

ENSP00000247986.2, ENST00000247986.2

Conserved Domains (2) summary

cl22853
Location:4 → 335

Motor_domain; Myosin and Kinesin motor domain

pfam00225
Location:11 → 335

Kinesin; Kinesin motor domain