KLHL40 - kelch like family member 40 Gene

Also Known as NEM8; SRYP; SYRP; KBTBD5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 131377

About KLHL40

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:42,685,537-42,692,544 (from NCBI)

This gene has 1 transcript (splice variant), 259 orthologues, 54 paralogues and is associated with 3 phenotypes. Biased expression in prostate (RPKM 4.0), esophagus (RPKM 2.3) and 2 other tissues.

Summary

This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

KLHL40 Products (1)

mRNA	Protein	Name
NM_152393.4	NP_689606.2	kelch-like protein 40

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	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

KLHL40 Protein Structure

BTB

BACK

Kelch_1

0
100
200
300
400
500
621 a.a.

Protein Preferred Names	Protein Names
kelch-like protein 40	kelch repeat and BTB (POZ) domain containing 5

KLHL40 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KLHL40	Q2TBA0	MCM10	Homo sapiens	Q7L590-2	Y2H Prey Pooling	32296183
Intra	KLHL40	Q2TBA0	MCM10	Homo sapiens	Q7L590-2	Anti Tag CoIP	28514442
Intra	KLHL40	Q2TBA0	MCM10	Homo sapiens	Q7L590-2	Validated Y2H	32296183
Intra	KLHL40	Q2TBA0	MCM10	Homo sapiens	Q7L590-2	Y2H Array	32296183
Intra	KLHL40	Q2TBA0	SAXO1	Homo sapiens	Q8IYX7	Y2H Prey Pooling	32296183
Intra	KLHL40	Q2TBA0	SAXO1	Homo sapiens	Q8IYX7	Validated Y2H	32296183
Intra	KLHL40	Q2TBA0	SAXO1	Homo sapiens	Q8IYX7	Y2H Array	32296183
Intra	KLHL40	Q2TBA0	FSD2	Homo sapiens	A1L4K1	Y2H Prey Pooling	32296183
Intra	KLHL40	Q2TBA0	FSD2	Homo sapiens	A1L4K1	Y2H Array	32296183
Intra	KLHL40	Q2TBA0	TASOR2	Homo sapiens	Q5VWN6	Validated Y2H	32296183
Intra	KLHL40	Q2TBA0	TASOR2	Homo sapiens	Q5VWN6	Y2H Array	32296183
Intra	KLHL40	Q2TBA0	TASOR2	Homo sapiens	Q5VWN6	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Nemaline Myopathy 8	NEM8 Nemaline Myopathy 8, Autosomal Recessive Myopathy, Nemaline, Type 8
Severe Congenital Nemaline Myopathy	Severe Congenital Nm
Spinal Muscular Atrophy Type 0	Very Severe Spinal Muscular Atrophy
Nemaline Myopathy 10	NEM10 Myopathy, Nemaline, Type 10
Myopathy	Muscular Diseases Myopathies
Congenital Structural Myopathy
Nemaline Myopathy 2	NEM2 Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy, Type 2 Neb-Related Nemaline Myopathy Myopathy, Nemaline, Type 2
Locked-In Syndrome	Locked In Syndrome Cerebromedullospinal Disconnection Locked-In State Quadriplegia
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Neuronopathy, Distal Hereditary Motor, Type Iia	HMN2A Hmn Iia Neuropathy, Distal Hereditary Motor, Type Iia Dhmn2a Distal Hereditary Motor Neuronopathy Type 2a Distal Hereditary Motor Neuropathy Type Iia Neuronopathy, Distal Hereditary Motor, Type 2a Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia Charcot-Marie-Tooth Disease, Spinal, Iia Autosomal Dominant Adult Spinal Muscular Atrophy Iia Spinal Charcot-Marie-Tooth Disease Iia Neuronopathy, Distal Hereditary Motor, 2a Charcot-Marie-Tooth Disease Spinal Iia Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia Neuropathy, Motor, Distal, Hereditary, Type 2a
Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement	CFEOM3A Fibrosis Of Extraocular Muscles, Congenital, 3a Congenital Fibrosis Of The Extraocular Muscles 3a Feom3 Locus Congenital Fibrosis Of Extraocular Muscles 3a With Or Without Extraocular Involvement Feom3 Tubb3 Syndrome Fibrosis Of Extraocular Muscles, Congenital, Type 3a
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Nemaline Myopathy 9	NEM9 Myopathy, Nemaline, Type 9
Nemaline Myopathy 11, Autosomal Recessive	NEM11 Nemaline Myopathy 11
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
King-Denborough Syndrome	King Denborough Syndrome King Syndrome Kousseff Nichols Syndrome KDS Noonan Like Contracture Myopathy Hyperpyrexia Anesthetic-Induced Malignant Hyperpyrexia In Children Koussef-Nichols Syndrome
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]
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
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-184150	EN10	Ligand	/	Unkown
HY-RS07368	KLHL40 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KLHL40	VGNC	VGNC:74165
Felis catus	KLHL40	VGNC	VGNC:63156
Bos taurus	KLHL40	VGNC	VGNC:30665
Mus musculus	KLHL40	MGD	MGI:1919580
Rattus norvegicus	KLHL40	RGD	RGD:1305368
Canis familiaris	KLHL40	VGNC	VGNC:52888