KDM5C - lysine demethylase 5C Gene

Also Known as MRXJ; SMCX; MRX13; MRXSJ; XE169; MRXSCJ; JARID1C; DXS1272E

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8242

About KDM5C

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:53,176,277-53,225,207 (from NCBI)

This gene has 23 transcripts (splice variants), 171 orthologues, 10 paralogues and is associated with 124 phenotypes. Ubiquitous expression in endometrium (RPKM 14.4), lymph node (RPKM 13.5) and 25 other tissues.

Summary

This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

KDM5C Products (8)

mRNA	Protein	Name
NM_001146702.2	NP_001140174.1	lysine-specific demethylase 5C isoform 2
NM_001282622.3	NP_001269551.1	lysine-specific demethylase 5C isoform 3
NM_001353978.3	NP_001340907.1	lysine-specific demethylase 5C isoform 4
NM_001353979.2	NP_001340908.1	lysine-specific demethylase 5C isoform 5
NM_001353981.2	NP_001340910.1	lysine-specific demethylase 5C isoform 6
NM_001353982.2	NP_001340911.1	lysine-specific demethylase 5C isoform 7
NM_001353984.2	NP_001340913.1	lysine-specific demethylase 5C isoform 8
NM_004187.5	NP_004178.2	lysine-specific demethylase 5C isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables histone H3K4 demethylase activity	IDA IDA: Inferred from direct assay	17320160	GOA
enables histone H3K4 demethylase activity	IMP IMP: Inferred from mutant phenotype	28262558	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17468742	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	27214403	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in nucleus	IDA IDA: Inferred from direct assay	18078810	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

KDM5C Protein Structure

JmjN

ARID

PHD

JmjC

zf-C5HC2

PLU-1

PHD

0
300
600
900
1200
1560 a.a.

Protein Preferred Names	Protein Names
lysine-specific demethylase 5C	JmjC domain-containing protein SMCX

KDM5C Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	KDM5C	P41229	REST	Homo sapiens	Q13127	Pull Down	17468742
Intra	KDM5C	P41229	REST	Homo sapiens	Q13127	TAP	17468742

Cross: Cross-species interaction Intra: Intraspecies interaction

KDM5C 抗体

製品番号	製品名	アプリケーション	反応性
HY-P81318	KDM5C/Jarid1C/SMCX Antibody (YA1063)	WB, ICC/IF	Human
HY-P85467	KDM5C/Jarid1C/SMCX Antibody (YA5159)	WB, ICC/IF	Human, Mouse, Rat, Bovine, Dog
HY-P85482	KDM5C/Jarid1C/SMCX Antibody (YA5174)	WB, ICC/IF	Human

関連疾患

Diseases	Alias
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mental Retardation, X-Linked, Syndromic, Jarid1c-Related MRXSCJ Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type Mrxsj Intellectual Developmental Disorder, X-Linked Syndromic, Claes-Jensen Type Kdm5c-Related Syndromic X-Linked Intellectual Disability Kdm5c-Related X-Linked Syndromic Intellectual Disability
Syndromic X-Linked Intellectual Disability Claes-Jensen Type	Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type Mrxscj Mrxsj Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation Syndromic X-Linked Mental Retardation Jarid1c-Related
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Syndromic X-Linked Intellectual Disability Siderius Type	Mrxssd Siderius-Hamel Syndrome Siderius X-Linked Mental Retardation Syndrome
Mohr-Tranebjaerg Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome Jensen Syndrome Deafness Dystonia Syndrome MTS Dds Deafness-Dystonia-Optic Atrophy Syndrome Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency Opticoacoustic Nerve Atrophy With Dementia Dystonia-Deafness Syndrome Ddp Ddon Syndrome Mohr-Tranebjærg Syndrome Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome Dystonia Deafness Syndrome Ddon Deafness - Dystonia - Optic Neuronopathy Syndrome Deafness-Dystonia-Optic Neuronopathy Syndrome Hearing Loss-Dystonia-Optic Neuronopathy Syndrome Dfn-1 X-Linked Progressive Deafness Type 1
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Weaver Syndrome	Wss Weaver-Smith Syndrome WVS Weaver-Like Syndrome Weaver-Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Syndrome Camptodactyly - Overgrowth - Unusual Facies Ezh2 Related Overgrowth Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly Weaver Smith Syndrome Weaver Like Syndrome Weaver Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Weaver Syndrome 1 Weaver Syndrome 2 Wvs1 Wvs2
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Mrxs13 Lindsay-Burn Syndrome Ppm-X Ppm-X Syndrome Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism Mental Retardation, X-Linked, Syndromic 13 X-Linked Mental Retardation 79 X-Linked Mental Retardation With Spasticity Intellectual Deficit, X-Linked - Psychosis - Macroorchidism Intellectual Disability Psychosis Macroorchidism Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism Intellectual Disability, X-Linked, Syndromic 13 Ppmx X-Linked Mental Retardation, Syndromic 13
Borjeson-Forssman-Lehmann Syndrome	BFLS Borj Borjeson Syndrome Mrxsbfl Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type Mental Retardation, Epilepsy, And Endocrine Disorders Mental Retardation, Epilepsy, And Endocrine Disorder Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type Mental Deficiency, Epilepsy And Endocrine Disorders Boerjeson-Forssman-Lehmann Syndrome Borjeson-Forssman Syndrome Mental Deficiency-Epilepsy- Endocrine Disorders
Kleefstra Syndrome 1	9q Subtelomeric Deletion Syndrome KLEFS1 Chromosome 9q34.3 Deletion Syndrome 9q- Syndrome 9q34 Deletion Syndrome Kleefstra Syndrome Due To 9q34 Microdeletion Kleefstra Syndrome 9q-Syndrome 9qstds Kleefstra Syndrome Due To 9q Subtelomeric Deletion Kleefstra Syndrome Due To Del(9)(Q34) Kleefstra Syndrome Due To Monosomy 9q34 Chromosome 9q Subtelomeric Deletion Syndrome Kleefstra Syndrome, Type 1
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	Atr-X Syndrome Atr, Nondeletion Type Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Atrx Syndrome Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome Xlmr Hypotonic Face Syndrome Alpha Thalassemia X-Linked Intellectual Disability Syndrome Alpha Thalassemia X-Linked Mental Retardation Syndrome Alpha Thalassemia/Mental Retardation, X-Linked Alpha-Thalassemia X-Linked Mental Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type X-Linked Alpha-Thalassemia/Mental Retardation Syndrome Xlmr-Hypotonic Face Syndrome Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Proud Syndrome Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Acc With Abnormal Genitalia Proud-Levine-Carpenter Syndrome Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Corpus Callosum Agenesis With Abnormal Genitalia New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum Proud Levine Carpenter Syndrome Acc-Abnormal Genitalia Syndrome Agenesis Of The Corpus Callosum, With Abnormal Genitalia ACCAG Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia Congenital Neurologic Anomalies
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
Syndromic Intellectual Disability
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Chromosome 16p13.3 Deletion Syndrome, Proximal	Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome Chromosome 16p13.3 Deletion Syndrome Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion Rubinstein Syndrome Broad Thumbs-Halluces Syndrome Rsts Rubinstein-Taybi Deletion Syndrome Rsts Deletion Syndrome Proximal Chromosome 16p13.3 Deletion Syndrome 16p13.3 Deletion Syndrome Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability Rts
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Chromophobe Renal Cell Carcinoma	Chromophobe Adenocarcinoma Chromophobe Carcinoma Of Kidney Kidney Chromophobe Renal Cell Carcinoma, Chromophobe Cell Crcc Chrcc Chromophobe Renal Cell Adenocarcinoma Chromophobe Renal Carcinoma Chromophobe Carcinoma

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 (13)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-120400	KDM5-C70	Inhibitor	98.82%	Unkown
HY-102047B	KDOAM-25 citrate	Inhibitor	98.56%	Unkown
HY-100014	KDM5A-IN-1	Inhibitor	99.64%	Unkown
HY-119397A	KDM5-C49 hydrochloride	Inhibitor	98.22%	Unkown
HY-158432	GT-653	Degrader	99.84%	Unkown
HY-100764	YUKA1	Inhibitor	99.15%	Unkown
HY-102047	KDOAM-25	Inhibitor	/	Unkown
HY-119397	KDM5-C49	Inhibitor	/	Unkown
HY-RS07220	KDM5C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-102047A	KDOAM-25 trihydrochloride	Inhibitor	/	Unkown
HY-183618	DW-229	Degrader	/	Unkown
HY-RS16858	Kdm5c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23299	Kdm5c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	KDM5C	VGNC	VGNC:73816
Canis familiaris	KDM5C	VGNC	VGNC:49652
Rattus norvegicus	KDM5C	RGD	RGD:1560601
Felis catus	KDM5C	VGNC	VGNC:97474
Mus musculus	KDM5C	MGD	MGI:99781
Bos taurus	KDM5C	VGNC	VGNC:49972
Others	KDM5C	NCBI