Klhl17 Gene Detail

Summary

• Symbol
  Klhl17
• Name
  kelch-like 17
• Synonyms
  actinfilin

• Feature Type
  protein coding gene
• IDs
  MGI:2678948
  NCBI Gene: 231003
• Alliance
  gene page
• Transcription Start Sites
  1 TSS

Location &
Maps

• Sequence Map
  Chr4:156313792-156319314 bp, - strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 4, 88.63 cM
• Mapping Data
  1 experiment

Strain
Comparison

• SNPs within 2kb
  390 from dbSNP Build 142
• Strain Annotations
  1

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2678948	protein coding gene	Chr4:156313501-156319314 (-)
129S1/SvImJ	no annotation
A/J	no annotation
AKR/J	no annotation
BALB/cJ	no annotation
C3H/HeJ	no annotation
C57BL/6NJ	no annotation
CAROLI/EiJ	no annotation
CAST/EiJ	no annotation
CBA/J	no annotation
DBA/2J	no annotation
FVB/NJ	no annotation
LP/J	no annotation
NOD/ShiLtJ	no annotation
NZO/HlLtJ	no annotation
PWK/PhJ	no annotation
SPRET/EiJ	no annotation
WSB/EiJ	no annotation

Homology

• Human Ortholog
  KLHL17, kelch like family member 17

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  KLHL17, kelch like family member 17
  
• Synonyms
  AF
• Links
  HGNC:24023

  NCBI Gene ID: 339451

  neXtProt AC: NX_Q6TDP4

  UniProt: Q6TDP4

  
  
• Chr Location
  1p36.33; chr1:960584-965719 (+)  GRCh38

---

• MGI Vertebrate Homology
  Klhl17 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: KLHL17
• Protein SuperFamily
  Kelch-like_protein_gigaxonin
• Gene Tree
  Klhl17
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  8 phenotypes from 2 alleles in 2 genetic backgrounds
  4 phenotype references
  

• All Mutations and Alleles
  2
• Endonuclease-mediated
  2
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  10 strains or lines available

Mice homozygous and heterozygous for a null allele exhibit reduced width of dendritic spine heads in neurons. Heterozygotes also show slightly increased mEPSC amplitude, hyperactivity and increased rearing, and reduced social interaction.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  25
• GO References
  6

Expression

• cDNA Data
  36

• Other Mouse Links
  Allen Institute
  GEO
• Other Vertebrate Links
  Xenbase klhl17
  ZFIN klhl17

Sequences &
Gene Models

• All Sequences
  38
• RefSeq
  2
• UniProt
  6
• CCDS
  CCDS38999.1

• Ensembl
  ENSMUSG00002076083 (Evidence)
• NCBI Gene
  231003

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00002076083	Ensembl Gene Model | MGI Sequence Detail	5523	C57BL/6J
transcript	ENSMUST00000105569	Ensembl | MGI Sequence Detail	2723	Not Applicable
polypeptide	ENSMUSP00000101194	Ensembl | MGI Sequence Detail	640	Not Applicable

Protein
Information

• UniProt
  6 Sequences
• Protein Ontology
  PR:000009379 kelch-like protein 17
  (term hierarchy)
• InterPro Domains
  IPR011705 BTB/Kelch-associated
  IPR017096 BTB-kelch protein
  IPR000210 BTB/POZ domain
  IPR011043 Galactose oxidase/kelch, beta-propeller
  IPR052392 Kelch repeat and BTB domain-containing protein
  IPR006652 Kelch repeat type 1
  IPR015915 Kelch-type beta propeller
  IPR011333 SKP1/BTB/POZ domain superfamily

Molecular
Reagents

• All nucleic 36

  cDNA 36

  
  

  Microarray probesets 2

Other
Accession IDs

MGI:2140408

References

• Summaries
  All 29

  Gene Ontology 6

  Phenotypes 4
• Earliest
  J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
• Latest
  J:340562 Hu HT, et al., Autism-related KLHL17 and SYNPO act in concert to control activity-dependent dendritic spine enlargement and the spine apparatus. PLoS Biol. 2023 Aug;21(8):e3002274

TSS for Klhl17:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45025	Chr4:156319234-156319330 (-)	32 bp