KCTD1 - potassium channel tetramerization domain containing 1 Gene

Also Known as C18orf5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 284252

About KCTD1

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:26,454,910-26,657,473 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues, 13 paralogues and is associated with 3 phenotypes. Broad expression in skin (RPKM 10.7), esophagus (RPKM 8.1) and 21 other tissues.

Summary

This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]

KCTD1 Products (6)

mRNA	Protein	Name
NM_001136205.2	NP_001129677.1	BTB/POZ domain-containing protein KCTD1 isoform a
NM_001142730.3	NP_001136202.1	BTB/POZ domain-containing protein KCTD1 isoform b
NM_001258221.2	NP_001245150.1	BTB/POZ domain-containing protein KCTD1 isoform a
NM_001258222.3	NP_001245151.1	BTB/POZ domain-containing protein KCTD1 isoform c
NM_001351443.1	NP_001338372.1	BTB/POZ domain-containing protein KCTD1 isoform a
NM_198991.4	NP_945342.1	BTB/POZ domain-containing protein KCTD1 isoform a

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	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	19115315	GOA
enables transcription factor binding	IPI IPI: Inferred from physical interaction	19115315	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19115315	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	19115315	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

KCTD1 Protein Structure

BTB_2

0
100
200
257 a.a.

Protein Preferred Names	Protein Names
BTB/POZ domain-containing protein KCTD1

KCTD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KCTD1	Q719H9	POLR1C	Homo sapiens	O15160	Y2H Prey Pooling	25416956
Intra	KCTD1	Q719H9	POLR1C	Homo sapiens	O15160	Y2H Array	25416956
Intra	KCTD1	Q719H9	LMO3	Homo sapiens	Q8TAP4-4	Validated Y2H	32296183
Intra	KCTD1	Q719H9	TGM7	Homo sapiens	Q96PF1	Validated Y2H	32296183
Intra	KCTD1	Q719H9	KCTD15	Homo sapiens	Q96SI1-2	Validated Y2H	32296183
Intra	KCTD1	Q719H9	KCTD15	Homo sapiens	Q96SI1-2	Y2H Prey Pooling	32296183
Intra	KCTD1	Q719H9	KCTD15	Homo sapiens	Q96SI1-2	Y2H Array	32296183
Intra	KCTD1	Q719H9	PRKAA2	Homo sapiens	P54646	Y2H Array	25416956
Intra	KCTD1	Q719H9	PSMA1	Homo sapiens	P25786	Y2H Prey Pooling	25416956
Intra	KCTD1	Q719H9	PSMA1	Homo sapiens	P25786	Y2H Array	25416956
Intra	KCTD1	Q719H9	EXOSC1	Homo sapiens	Q9Y3B2	Validated Y2H	32296183
Intra	KCTD1	Q719H9	TRAPPC2	Homo sapiens	P0DI81	Y2H Prey Pooling	25416956
Intra	KCTD1	Q719H9	TRAPPC2	Homo sapiens	P0DI81	Validated Y2H	25416956
Intra	KCTD1	Q719H9	EPM2AIP1	Homo sapiens	Q7L775	Y2H Prey Pooling	25416956
Intra	KCTD1	Q719H9	EPM2AIP1	Homo sapiens	Q7L775	Validated Y2H	25416956
Intra	KCTD1	Q719H9	EPM2AIP1	Homo sapiens	Q7L775	Y2H Array	25416956
Intra	KCTD1	Q719H9	KCTD15	Homo sapiens	Q96SI1	Validated Y2H	25416956
Intra	KCTD1	Q719H9	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
Intra	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25416956
Intra	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Y2H Array	29892012
Intra	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
Intra	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	25416956
Intra	KCTD1	Q719H9	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
Intra	KCTD1	Q719H9	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	KCTD1	Q719H9	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	KCTD1	Q719H9	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
Intra	KCTD1	Q719H9	LMO3	Homo sapiens	Q8TAP4	Validated Y2H	25416956
Intra	KCTD1	Q719H9	LMO3	Homo sapiens	Q8TAP4	Y2H Array	25416956
Intra	KCTD1	Q719H9	LMO3	Homo sapiens	Q8TAP4	Y2H Prey Pooling	25416956
Intra	KCTD1	Q719H9	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	GMS	27152988
Intra	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	Y2H Prey Pooling	32296183
Intra	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	Validated Y2H	32296183
Intra	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	Y2H Array	25416956
Intra	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	EM	27152988
Intra	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Scalp-Ear-Nipple Syndrome	Finlay-Marks Syndrome Sen Syndrome SENS Scalp Ear Nipple Syndrome Hereditary Syndrome Of Lumpy Scalp, Odd Ears And Rudimentary Nipples Hereditary Syndrome Of Lumpy Scalp, Odd Ears, And Rudimentary Nipples Indian Childhood Cirrhosis
Aplasia Cutis Congenita	Aplasia Cutis Congenita Of Limbs Recessive Congenital Absence Of Skin On The Upper Or Lower Limbs Recessive Aplasia Cutis Congenita Of The Limbs Aplasia Cutis Congenita Nonsyndromic Congenital Defect Of Skull And Scalp Scalp Defect Congenital
Branchiooculofacial Syndrome	Branchio-Oculo-Facial Syndrome BOFS Bof Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging Bofs Syndrome Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Ectodermal Dysplasia 4, Hair/Nail Type	Pure Hair And Nail Ectodermal Dysplasia ECTD4 Ectodermal Dysplasia, Pure Hair-Nail Type Ectodermal Dysplasia, 'Pure' Hair/Nail Type Hned Hair-Nail Ectodermal Dysplasia Phned Ectodermal Dysplasia Pure Hair-Nail Type Ectodermal Dysplasia, 'Pure' Hair-Nail Type Dysplasia, Ectodermal, Type 4, Hair/Nail
Gillespie Syndrome	GLSP Aniridia, Cerebellar Ataxia And Mental Deficiency Aniridia Cerebellar Ataxia Mental Deficiency Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome Aniridia-Cerebellar Ataxia-Intellectual Disability Aniridia-Cerebellar Ataxia-Mental Deficiency Partial Aniridia-Cerebellar Ataxia-Oligophrenia Aniridia, Cerebellar Ataxia, And Intellectual Disability
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
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

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-RS07186	KCTD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCTD1	RGD	RGD:621566
Mus musculus	KCTD1	MGD	MGI:1918269
Macaca mulatta	KCTD1	VGNC	VGNC:73850
Felis catus	KCTD1	VGNC	VGNC:63052
Canis familiaris	KCTD1	VGNC	VGNC:55750
Bos taurus	KCTD1	VGNC	VGNC:30499
Others	KCTD1	NCBI