U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 374654, updated on 23-Nov-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIF7 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89617309..89663049, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87372080..87419012, 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 H3K4me1 hESC enhancer GRCh37_chr15:90029819-90030319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90035105-90035610 Neighboring gene Rh family C glycoprotein Neighboring gene long intergenic non-protein coding RNA 928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90119099-90119627 Neighboring gene TOPBP1 interacting checkpoint and replication regulator Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:90171995-90173194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6801 Neighboring gene Sharpr-MPRA regulatory region 5394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6802 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90215543-90215807 Neighboring gene Sharpr-MPRA regulatory region 3473 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

    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
     
    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 
    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

    Preferred Names
    kinesin-like protein KIF7
    Names
    EQYK340

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q3SXY0, Q6UXE9, 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: GCF_000001405.40-RS_2023_10

    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
      87372080..87419012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377880.1XP_054233855.1  kinesin-like protein KIF7 isoform X6

    2. XM_054377876.1XP_054233851.1  kinesin-like protein KIF7 isoform X2

    3. XM_054377875.1XP_054233850.1  kinesin-like protein KIF7 isoform X1

    4. XM_054377879.1XP_054233854.1  kinesin-like protein KIF7 isoform X5

    5. XM_054377878.1XP_054233853.1  kinesin-like protein KIF7 isoform X4

    6. XM_054377877.1XP_054233852.1  kinesin-like protein KIF7 isoform X3