KLHL17 - kelch like family member 17 Gene

Also Known as AF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 339451

About KLHL17

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:960,584-965,719 (from NCBI)

This gene has 4 transcripts (splice variants), 203 orthologues and 54 paralogues. Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 2.8) and 24 other tissues.

Summary

The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]

KLHL17 Products (1)

mRNA Protein Name
NM_198317.3 NP_938073.1 kelch-like protein 17

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLHL17 Protein Structure

BTB

BTB: BTB/POZ domain (83 - 188)

BACK

BACK: BTB And C-terminal Kelch (194 - 295)

Kelch_1

Kelch_1: Kelch motif (378 - 422)

Kelch_1

Kelch_1: Kelch motif (425 - 469)

Kelch_1

Kelch_1: Kelch motif (472 - 516)

Kelch_1

Kelch_1: Kelch motif (519 - 564)

Kelch_1

Kelch_1: Kelch motif (567 - 610)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 642 a.a.
Protein Preferred Names Protein Names

kelch-like protein 17

  • actinfilin

Related Diseases

Diseases Alias
Esophageal Atresia

  • Tracheoesophageal Fistula

  • Congenital Atresia Of Esophagus

  • Congenital Imperforate Esophagus

  • Imperforate Esophagus

  • Oesophageal Atresia

  • Te Fistula

  • Tef

  • Tracheoesophageal Fistula With Or Without Esophageal Atresia
Chromosome 1p36 Deletion Syndrome

  • 1p36 Deletion Syndrome

  • Deletion 1p36

  • Monosomy 1p36

  • Subtelomeric 1p36 Deletion

  • Monosomy 1p36 Syndrome

  • Distal Monosomy 1p36

  • Del(1)(P36)

  • Deletion 1pter

  • Monosomy 1pter
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07360 KLHL17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta KLHL17 VGNC VGNC:74108
Canis familiaris KLHL17 VGNC VGNC:42452
Mus musculus KLHL17 MGD MGI:2678948
Rattus norvegicus KLHL17 RGD RGD:708444
Bos taurus KLHL17 VGNC VGNC:30646
Felis catus KLHL17 VGNC VGNC:63146
Others KLHL17 NCBI