KLHL15 - kelch like family member 15 Gene

Also Known as XLID103; HEL-S-305

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80311

About KLHL15

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:23,983,720-24,027,186 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 54 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 22.1), testis (RPKM 14.8) and 22 other tissues.

Summary

This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]

KLHL15 Products (1)

mRNA	Protein	Name
NM_030624.3	NP_085127.2	kelch-like protein 15

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25036637	GOA
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: Inferred from direct assay	27561354	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in negative regulation of double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27561354	GOA
involved in nuclear protein quality control by the ubiquitin-proteasome system	IDA IDA: Inferred from direct assay	27561354	GOA
involved in ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	27561354	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	27561354	GOA
located in nucleus	IDA IDA: Inferred from direct assay	27561354	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

KLHL15 Protein Structure

BTB

BACK

Kelch_1

0
100
200
300
400
500
604 a.a.

Protein Preferred Names	Protein Names
kelch-like protein 15	epididymis secretory protein Li 305

KLHL15 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Cross	KLHL15	Q96M94	Dcx	Mus musculus	O88809	Anti Tag CoIP	33199366
Intra	KLHL15	Q96M94	DCLK1	Homo sapiens	O15075	Anti Tag CoIP	33199366
Intra	KLHL15	Q96M94	DCLK2	Homo sapiens	Q8N568	Anti Tag CoIP	33199366
Intra	KLHL15	Q96M94	NUDCD3	Homo sapiens	Q8IVD9	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked 103	XLID103 Mrx103 Mental Retardation, X-Linked 103 Mental Retardation, X-Linked, Type 103
Non-Syndromic X-Linked Intellectual Disability 103	Mrx103 X-Linked Mental Retardation 103
Syndromic X-Linked Intellectual Disability Turner Type	Mental Retardation, X-Linked Syndromic, Turner Type Intellectual Disability, X-Linked Syndromic, Turner Type Brooks-Wisniewski-Brown Syndrome Mental Retardation And Macrocephaly Syndrome Mrxst X-Linked Intellectual Disability, Brooks Type Mental Retardation, X-Linked, Syndromic, Turner Type
Ataxia, Sensory, 1, Autosomal Dominant	Autosomal Dominant Sensory Ataxia 1 SNAX1 Adsa Ataxia, Sensory, Type 1, Autosomal Dominant Ataxia, Sensory, Autosomal Dominant
Neuronopathy, Distal Hereditary Motor, Type Iid	HMN2D Hmn Iid Dhmn2d Distal Hereditary Motor Neuronopathy Type 2d Distal Hereditary Motor Neuropathy Type Iid Neuronopathy, Distal Hereditary Motor, Type 2d Neuropathy, Distal Hereditary Motor, Type Iid Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant Distal Spinal Muscular Atrophy With Calf Predominance Neuronopathy, Distal Hereditary Motor, 2d Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant Dhmn Iid Neuropathy, Motor, Distal, Hereditary, Type 2d
Non-Syndromic X-Linked Intellectual Disability 101	Mrx101 X-Linked Mental Retardation 101
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Syndromic X-Linked Intellectual Disability Cabezas Type	Cabezas Syndrome Syndromic X-Linked Mental Retardation 15 Mental Retardation, X-Linked, Syndromic 15 Mrss Mrxs15 Mrxsc X-Linked Mental Retardation With Short Stature X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-Linked, With Short Stature Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Kaufman Oculocerebrofacial Syndrome	KOS Blepharophimosis-Ptosis-Intellectual Disability Syndrome Oculocerebrofacial Syndrome, Kaufman Type Bpids Blepharophimosis Ptosis Intellectual Disability Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet Bpid Syndrome
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
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Hennekam Syndrome	Hennekam Lymphangiectasia Lymphedema Syndrome Hennekam Lymphangiectasia-Lymphedema Syndrome Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome Lymphangiectasies And Lymphedema Hennekam Type Generalized Lymphatic Dysplasia Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability

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.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS07359	KLHL15 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KLHL15	VGNC	VGNC:30645
Felis catus	KLHL15	VGNC	VGNC:63145
Rattus norvegicus	KLHL15	RGD	RGD:1563101
Mus musculus	KLHL15	MGD	MGI:1923400
Canis familiaris	KLHL15	VGNC	VGNC:42451
Others	KLHL15	NCBI