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KLHL7 - kelch like family member 7 Gene

Also Known as CISS3; KLHL6; SBBI26; PERCHING

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55975

About KLHL7

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:23,105,785-23,177,914 (from NCBI)

This gene has 13 transcripts (splice variants), 231 orthologues, 54 paralogues and is associated with 10 phenotypes. Broad expression in heart (RPKM 18.6), testis (RPKM 12.2) and 24 other tissues.

Summary

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

KLHL7 Products (3)

mRNA	Protein	Name
NM_001031710.3	NP_001026880.2	kelch-like protein 7 isoform 1
NM_001172428.2	NP_001165899.1	kelch-like protein 7 isoform 3
NM_018846.5	NP_061334.4	kelch-like protein 7 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	21828050	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21145461	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	21828050	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	21828050	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	21828050	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	27392078	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

KLHL7 Protein Structure

BTB

BACK

Kelch_1

0
100
200
300
400
500
586 a.a.

Protein Preferred Names	Protein Names
kelch-like protein 7	kelch-like 6

KLHL7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KLHL7	Q8IXQ5	CUL3	Homo sapiens	Q13618	Anti Tag CoIP	21828050
Intra	KLHL7	Q8IXQ5	CUL3	Homo sapiens	Q13618	IF	21828050
Intra	KLHL7	Q8IXQ5	CUL3	Homo sapiens	Q13618	Anti Tag CoIP	30190310
Intra	KLHL7	Q8IXQ5	KLHL7	Homo sapiens	Q8IXQ5	IF	21828050
Intra	KLHL7	Q8IXQ5	KLHL7	Homo sapiens	Q8IXQ5	Anti Tag CoIP	21828050

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 42	RP42 Retinitis Pigmentosa-42 Retinitis Pigmentosa, Type 42
Perching Syndrome	PERCHING Crisponi/Cold-Induced Sweating Syndrome 3, Formerly Ciss3, Formerly Ciss3 Crisponi/Cold-Induced Sweating Syndrome 3
Cold-Induced Sweating Syndrome 3
Klhl7-Related Bohring-Opitz-Like/Cold-Induced Sweating-Like Overlap Syndrome	Perching Syndrome
Klhl7-Related Bohring-Opitz-Like Syndrome	Klhl7-Related Bos-Like Syndrome
Klhl7-Related Cold-Induced Sweating-Like Syndrome	Klhl7-Related Crisponi-Like Syndrome
Bohring-Opitz Syndrome	C-Like Syndrome Bohring Syndrome Opitz Trigonocephaly-Like Syndrome BOPS Oberklaid-Danks Syndrome Bos Bos Syndrome
Crisponi/Cold-Induced Sweating Syndrome 1	Crisponi Syndrome Cold-Induced Sweating Syndrome 1 CISS1 Sohar-Crisponi Syndrome Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death Muscle Contractions Tetanoform With Characteristic Face Camptodactyly Hyperthermia And Sudden Death
Cold-Induced Sweating Syndrome	Crisponi Syndrome Sohar-Crisponi Syndrome Ciss Cntf Receptor-Related Disorders Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death Sweating Syndrome, Cold-Induced
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	CLIFAHDD Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome Clifahdd Syndrome Doid:0081048 Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31

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-RS07371	KLHL7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KLHL7	RGD	RGD:1305564
Mus musculus	KLHL7	MGD	MGI:1196453
Canis familiaris	KLHL7	VGNC	VGNC:42476
Felis catus	KLHL7	VGNC	VGNC:63158
Bos taurus	KLHL7	VGNC	VGNC:107227
Macaca mulatta	KLHL7	VGNC	VGNC:74050
Others	KLHL7	NCBI