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

Gene ID: 374654, updated on 4-Nov-2022

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; 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
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Genomic context

See KIF7 in Genome Data Viewer
Location:
15q26.1
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89617309..89663049, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87383910..87411386, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90171208..90198698, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Rh family C glycoprotein Neighboring gene long intergenic non-protein coding RNA 928 Neighboring gene TOPBP1 interacting checkpoint and replication regulator Neighboring gene perilipin 1 Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene peroxisomal biogenesis factor 11 alpha

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC120653, MGC138476, MGC138478

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
PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
part_of kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

  1. NG_030338.1 RefSeqGene

    Range
    4985..32475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_198525.3NP_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, Q8IW72
    Related
    ENSP00000377934.3, ENST00000394412.8
    Conserved Domains (5) summary
    smart00129
    Location:15356
    KISc; Kinesin motor, catalytic domain. ATPase
    cd01372
    Location:15350
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
    pfam15665
    Location:733952
    FAM184; Family with sequence similarity 184, A and B
    cl01629
    Location:500574
    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:8501028
    Utp11; Utp11 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    89617309..89663049 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432481.1XP_047288437.1  kinesin-like protein KIF7 isoform X6

  2. XM_047432477.1XP_047288433.1  kinesin-like protein KIF7 isoform X2

  3. XM_011521531.3XP_011519833.1  kinesin-like protein KIF7 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIQ8
    Related
    ENSP00000512678.1, ENST00000696512.1
    Conserved Domains (5) summary
    smart00129
    Location:56397
    KISc; Kinesin motor, catalytic domain. ATPase
    cd01372
    Location:56391
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
    pfam15665
    Location:774993
    FAM184; Family with sequence similarity 184, A and B
    cl01629
    Location:541615
    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:8911069
    Utp11; Utp11 protein
  4. XM_047432480.1XP_047288436.1  kinesin-like protein KIF7 isoform X5

  5. XM_047432479.1XP_047288435.1  kinesin-like protein KIF7 isoform X4

  6. XM_047432478.1XP_047288434.1  kinesin-like protein KIF7 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    87383910..87411386 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)