2. Gene
  3. KLHL1 - kelch like family member 1 Gene

KLHL1 - kelch like family member 1 Gene

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

Also known as MRP2

Gene ID: 57626 | Gene type: protein coding

About KLHL1

Cytogenetic location: 13q21.33 Genomic coordinates (GRCh38): 13:69,700,597-70,108,452 (from NCBI)

This gene has 2 transcripts (splice variants), 130 orthologues and 54 paralogues. Low expression observed in reference dataset.

Summary

The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]

KLHL1 Products(2)

mRNA Protein Name
NM_001286725.2 NP_001273654.1 kelch-like protein 1 isoform 2
NM_020866.3 NP_065917.1 kelch-like protein 1 isoform 1

KLHL1 Protein Structure

BTB

BTB: BTB/POZ domain (203 - 306)

BACK

BACK: BTB And C-terminal Kelch (314 - 413)

Kelch_1

Kelch_1: Kelch motif (459 - 492)

Kelch_1

Kelch_1: Kelch motif (496 - 540)

Kelch_1

Kelch_1: Kelch motif (542 - 587)

Kelch_1

Kelch_1: Kelch motif (589 - 633)

Kelch_1

Kelch_1: Kelch motif (636 - 686)

Kelch_1

Kelch_1: Kelch motif (689 - 734)

  • 0
  • 200
  • 400
  • 600
  • 748 a.a.
Protein Preferred Names Protein Names

kelch-like protein 1

Mayven-related protein 2

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8
Polyneuropathy Due To Drug
Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias
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-RS07354 KLHL1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KLHL1 RGD RGD:1307452
Canis familiaris KLHL1 VGNC VGNC:42445
Mus musculus KLHL1 MGD MGI:2136335
Macaca mulatta KLHL1 VGNC VGNC:74184
Felis catus KLHL1 VGNC VGNC:67957
Bos taurus KLHL1 VGNC VGNC:53821