KLHL7 - kelch like family member 7 Gene

Homo sapiens

Also known as CISS3; KLHL6; SBBI26; PERCHING

Gene ID: 55975 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	21828050	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07371	KLHL7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.