2. Gene
  3. KLHL17 - kelch like family member 17 Gene

KLHL17 - kelch like family member 17 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AF

Gene ID: 339451 | Gene type: protein coding

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

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)

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