KIF7 kinesin family member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIF7provided by HGNC
Official Full Name: kinesin family member 7provided by HGNC
Primary source: HGNC:HGNC:30497
See related: Ensembl:ENSG00000166813 MIM:611254; AllianceGenome:HGNC:30497
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: ACLS; AGBK; HLS2; MMEDF; JBTS12; UNQ340
Summary: This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in endometrium (RPKM 2.5), prostate (RPKM 2.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (89617309..89663049, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87372080..87419012, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90171208..90198698, complement)

Chromosome 15 - NC_000015.10 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 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?

Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Title: Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.
Title: Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.
Human papillomavirus 16 (HPV 16) E6 but not E7 inhibits the antitumor activity of LKB1 in lung cancer cells by downregulating the expression of KIF7.
Title: Human papillomavirus 16 (HPV 16) E6 but not E7 inhibits the antitumor activity of LKB1 in lung cancer cells by downregulating the expression of KIF7.
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Title: Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing.
Title: Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing.
The expression of KIF7 was lower in cancer tissues than in paratumor tissues, and KIF7 expression was associated with recurrence-free survival and overall survival in epithelial ovarian cancer patients.
Title: Low expression of KIF7 indicates poor prognosis in epithelial ovarian cancer.
two children who both had two missense mutations in the Kinesin Family Member 7 (KIF7) gene, are reported.
Title: Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
Kif7 may contribute to pathogenesis of gestational trophoblastic disease through enhancing survival and promoting dissemination of trophoblasts.
Title: Downregulation of the gli transcription factors regulator Kif7 facilitates cell survival and migration of choriocarcinoma cells.
We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C).
Title: A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
results suggested that PPFIA1 functioned with PP2A to promote the dephosphorylation of Kif7, triggering Kif7 localization to the tips of primary cilia and promoting Gli transcriptional activity.
Title: The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acrocallosal syndrome MedGen: C0796147 OMIM: 200990 GeneReviews: Joubert Syndrome	not available
Hydrolethalus syndrome 2 MedGen: C3279899 OMIM: 614120 GeneReviews: Not available	not available
Multiple epiphyseal dysplasia, Al-Gazali type MedGen: C1846722 OMIM: 607131 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102284 (e-PCR)
- UniSTS:96618

RH92955 (e-PCR)
- UniSTS:93050

SHGC-146876 (e-PCR)
- UniSTS:175486

RH99140 (e-PCR)
- UniSTS:88820

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 microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule motor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary tip	TAS Traceable Author Statement more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in 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

General protein information

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Preferred Names: kinesin-like protein KIF7

Names: EQYK340

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_030338.1 RefSeqGene

Range

4985..32475

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_198525.3 → NP_940927.2 kinesin-like protein KIF7

See identical proteins and their annotated locations for NP_940927.2

Status: REVIEWED

Source sequence(s)

AC013787, AW451733, AY358384, BC042063, BC104044, BC112273

Consensus CDS

CCDS32325.2

UniProtKB/Swiss-Prot

Q2M1P5, Q3SXY0, Q6UXE9, Q8IW72

Related

ENSP00000377934.3, ENST00000394412.8

Conserved Domains (5) summary

smart00129
Location:15 → 356

KISc; Kinesin motor, catalytic domain. ATPase

cd01372
Location:15 → 350

KISc_KIF4; Kinesin motor domain, KIF4-like subfamily

pfam15665
Location:733 → 952

FAM184; Family with sequence similarity 184, A and B

cl01629
Location:500 → 574

TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...

cl02164
Location:850 → 1028

Utp11; Utp11 protein

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_000015.10 Reference GRCh38.p14 Primary Assembly

Range

89617309..89663049 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432481.1 → XP_047288437.1 kinesin-like protein KIF7 isoform X6
XM_047432477.1 → XP_047288433.1 kinesin-like protein KIF7 isoform X2
XM_011521531.3 → XP_011519833.1 kinesin-like protein KIF7 isoform X1

UniProtKB/TrEMBL

A0A8Q3SIQ8

Related

ENSP00000512678.1, ENST00000696512.1

Conserved Domains (5) summary

smart00129
Location:56 → 397

KISc; Kinesin motor, catalytic domain. ATPase

cd01372
Location:56 → 391

KISc_KIF4; Kinesin motor domain, KIF4-like subfamily

pfam15665
Location:774 → 993

FAM184; Family with sequence similarity 184, A and B

cl01629
Location:541 → 615

TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...

cl02164
Location:891 → 1069

Utp11; Utp11 protein
XM_047432480.1 → XP_047288436.1 kinesin-like protein KIF7 isoform X5
XM_047432479.1 → XP_047288435.1 kinesin-like protein KIF7 isoform X4
XM_047432478.1 → XP_047288434.1 kinesin-like protein KIF7 isoform X3