KLHL1 - kelch like family member 1 Gene

Also Known as MRP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57626

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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22632832 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10888605 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

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

KLHL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KLHL1 Q9NR64 VHL Homo sapiens P40337-2
Y2H Pooling
32814053
Intra
KLHL1 Q9NR64 VHL Homo sapiens P40337-2
Validated Y2H
32814053
Intra
KLHL1 Q9NR64 VHL Homo sapiens P40337-2
Y2H Array
32814053
Intra
KLHL1 Q9NR64 CUL3 Homo sapiens Q13618
Anti Tag CoIP
30190310
Intra
KLHL1 Q9NR64 NUDCD3 Homo sapiens Q8IVD9
Anti Tag CoIP
33961781
Intra
KLHL1 Q9NR64 NUDCD3 Homo sapiens Q8IVD9
Lumier
25036637
Cross: Cross-species interaction Intra: Intraspecies interaction

KLHL1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P85240 KLHL1 Antibody (YA4932) ICC/IF, ELISA Human
HY-P85240A KLHL1 Antibody (YA4932)(PBS only) ICC/IF, ELISA Human

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07354 KLHL1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others KLHL1 NCBI