Format

Send to:

Choose Destination

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

Gene ID: 374654, updated on 12-May-2016
Official Symbol
KIF7provided by HGNC
Official Full Name
kinesin family member 7provided by HGNC
Primary source
HGNC:HGNC:30497
See related
Ensembl:ENSG00000166813 HPRD:14187; MIM:611254; Vega:OTTHUMG00000157177
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]
Orthologs
Location:
15q26.1
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (89608913..89663074, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90171201..90198725, 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Acrocallosal syndrome, Schinzel type Compare labs
Hydrolethalus syndrome 2
MedGen: C3279899 OMIM: 614120 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog signaling, organism-specific biosystem (from KEGG)
    Hedgehog signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling, conserved biosystem (from KEGG)
    Hedgehog signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC120653, MGC138476, MGC138478

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
microtubule motor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
ciliary tip TAS
Traceable Author Statement
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
kinesin-like protein KIF7
Names
EQYK340

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
    5001..32482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_198525.2NP_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
    Related
    ENSP00000377934, OTTHUMP00000211643, ENST00000394412, OTTHUMT00000347782
    Conserved Domains (5) summary
    smart00129
    Location:15356
    KISc; Kinesin motor, catalytic domain. ATPase
    COG1340
    Location:7031042
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl02164
    Location:8501028
    Utp11; Utp11 protein
    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 ...
    cd01372
    Location:15350
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    89608913..89663074 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521535.1XP_011519837.1  

    Conserved Domains (5) summary
    smart00129
    Location:56397
    KISc; Kinesin motor, catalytic domain. ATPase
    COG1340
    Location:7441083
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl02164
    Location:8911069
    Utp11; Utp11 protein
    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 ...
    cd01372
    Location:56391
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
  2. XM_011521534.1XP_011519836.1  

    Conserved Domains (5) summary
    smart00129
    Location:56397
    KISc; Kinesin motor, catalytic domain. ATPase
    COG1340
    Location:7441083
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl02164
    Location:8911069
    Utp11; Utp11 protein
    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 ...
    cd01372
    Location:56391
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
  3. XM_011521536.1XP_011519838.1  

    Conserved Domains (5) summary
    smart00129
    Location:56397
    KISc; Kinesin motor, catalytic domain. ATPase
    COG1340
    Location:7441083
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl02164
    Location:8911069
    Utp11; Utp11 protein
    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 ...
    cd01372
    Location:56391
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
  4. XM_011521533.1XP_011519835.1  

    Conserved Domains (5) summary
    smart00129
    Location:56397
    KISc; Kinesin motor, catalytic domain. ATPase
    COG1340
    Location:7431082
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl02164
    Location:8901068
    Utp11; Utp11 protein
    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 ...
    cd01372
    Location:56391
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
  5. XM_011521532.1XP_011519834.1  

    Conserved Domains (5) summary
    smart00129
    Location:56397
    KISc; Kinesin motor, catalytic domain. ATPase
    COG1340
    Location:7431082
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl02164
    Location:8901068
    Utp11; Utp11 protein
    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 ...
    cd01372
    Location:56391
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
  6. XM_011521531.1XP_011519833.1  

    Conserved Domains (5) summary
    smart00129
    Location:56397
    KISc; Kinesin motor, catalytic domain. ATPase
    COG1340
    Location:7441083
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl02164
    Location:8911069
    Utp11; Utp11 protein
    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 ...
    cd01372
    Location:56391
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
  7. XM_005254902.2XP_005254959.1  

    See identical proteins and their annotated locations for XP_005254959.1

    UniProtKB/Swiss-Prot
    Q2M1P5
    Conserved Domains (5) summary
    smart00129
    Location:15356
    KISc; Kinesin motor, catalytic domain. ATPase
    COG1340
    Location:7031042
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl02164
    Location:8501028
    Utp11; Utp11 protein
    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 ...
    cd01372
    Location:15350
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily
  8. XM_011521537.1XP_011519839.1  

    Conserved Domains (4) summary
    smart00129
    Location:56397
    KISc; Kinesin motor, catalytic domain. ATPase
    pfam05890
    Location:746850
    Ebp2; Eukaryotic rRNA processing protein EBP2
    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 ...
    cd01372
    Location:56391
    KISc_KIF4; Kinesin motor domain, KIF4-like subfamily

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    90012172..90039692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)