KLHL9 - kelch like family member 9 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55958

About KLHL9

Cytogenetic location: 9p21.3 Genomic coordinates (GRCh38): 9:21,329,665-21,335,404 (from NCBI)

This gene has 1 transcript (splice variant), 194 orthologues, 54 paralogues and is associated with 1 phenotype.

Summary

This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 Ligase, which plays a role in Mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein Aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]

KLHL9 Products (1)

mRNA Protein Name
NM_018847.4 NP_061335.1 kelch-like protein 9
Molecular Function GO Annotation Evidence References Source
enables cullin family protein binding IPI
IPI: Inferred from physical interaction
14528312 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17543862 GOA
contributes to ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
17543862 GOA
Biological Process GO Annotation Evidence References Source
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
17543862 GOA
involved in regulation of cytokinesis IMP
IMP: Inferred from mutant phenotype
17543862 GOA
Cellular Component GO Annotation Evidence References Source
part of Cul3-RING ubiquitin ligase complex IDA
IDA: Inferred from direct assay
17543862 GOA
located in midbody IDA
IDA: Inferred from direct assay
19995937 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

KLHL9 Protein Structure

BTB

BTB: BTB/POZ domain (40 - 146)

BACK

BACK: BTB And C-terminal Kelch (154 - 255)

Kelch_1

Kelch_1: Kelch motif (336 - 386)

Kelch_1

Kelch_1: Kelch motif (394 - 433)

Kelch_1

Kelch_1: Kelch motif (437 - 479)

Kelch_1

Kelch_1: Kelch motif (485 - 531)

Kelch_1

Kelch_1: Kelch motif (536 - 577)

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  • 617 a.a.
Protein Preferred Names Protein Names

kelch-like protein 9

KLHL9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KLHL9 Q9P2J3 CUL3 Homo sapiens Q13618 30190310
Intra
KLHL9 Q9P2J3 CUL3 Homo sapiens Q13618 20554658
Intra
KLHL9 Q9P2J3 CUL3 Homo sapiens Q13618 17543862
Intra
KLHL9 Q9P2J3 AURKB Homo sapiens Q96GD4 17543862
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Klhl9-Related Early-Onset Distal Myopathy
Nemaline Myopathy 9
  • NEM9

  • Myopathy, Nemaline, Type 9

Fatal Infantile Hypertonic Myofibrillar Myopathy
Myopathy, Distal, 4
  • Distal Myopathy With Posterior Leg And Anterior Hand Involvement

  • MPD4

  • Williams Distal Myopathy

  • Distal Muscular Dystrophy 4

  • Distal Abd-Filaminopathy

  • Distal Myopathy 4

  • Myopathy, Distal, Type 4

Tibial Muscular Dystrophy
  • Tmd

  • Udd Myopathy

  • Distal Titinopathy

  • Finnish Tibial Muscular Dystrophy

  • Tardive Tibial Muscular Dystrophy

  • Udd Type Distal Myopathy

  • Udd Distal Myopathy

  • Udd-Markesbery Muscular Dystrophy

  • Distal Myopathy, Udd Type

  • Distal Myopathies

  • Tibial Muscular Dystrophy, Tardive

Myopathy, Myofibrillar, 9, With Early Respiratory Failure
  • Hereditary Myopathy With Early Respiratory Failure

  • Hmerf

  • Myopathy, Proximal, With Early Respiratory Muscle Involvement

  • Edstrom Myopathy

  • Mfm-Titinopathy

  • MFM9

  • Mprm

  • Hereditary Inclusion Body Myopathy With Early Respiratory Failure

  • Hibm-Erf

  • Myofibrillar Myopathy-Titinopathy

  • Myofibrillar Myopathy With Early Respiratory Failure

  • Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

  • Myofibrillar Myopathy 9

  • Myofibrillar Myopathy 9 With Early Respiratory Failure

  • Autosomal Dominant Distal Myopathy With Early Respiratory Failure

  • Proximal Myopathy With Early Respiratory Muscle Involvement

  • Hereditary Proximal Myopathy With Early Respiratory Failure

  • Admerf

  • Edström Myopathy

  • Hmerf-Erf

Melanoma, Cutaneous Malignant 1
  • Familial Melanoma

  • Melanoma, Cutaneous Malignant, Susceptibility To, 1

  • Melanoma, Malignant

  • CMM1

  • Melanoma, Cutaneous Malignant

  • Cmm

  • Familial Atypical Mole-Malignant Melanoma Syndrome

  • Fammm

  • Melanoma, Familial

  • Mlm

  • Dysplastic Nevus Syndrome, Hereditary

  • Dns

  • B-K Mole Syndrome

  • Melanoma, Cutaneous Malignant, 1

  • Malignant Melanoma, Cutaneous

  • Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

  • Dysplastic Nevus Syndrome

  • Cutaneous Melanoma

  • Familial Atypical Mole Melanoma Syndrome

  • Hereditary Melanoma

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

Orthologs Information

Species Symbol Source ID
Bos taurus KLHL9 VGNC VGNC:30671
Felis catus KLHL9 VGNC VGNC:82345
Mus musculus KLHL9 MGD MGI:2180122
Macaca mulatta KLHL9 VGNC VGNC:74080
Rattus norvegicus KLHL9 RGD RGD:1304814
Others KLHL9 NCBI