KCTD1 - potassium channel tetramerization domain containing 1 Gene

Homo sapiens

Also known as C18orf5

Gene ID: 284252 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19115315	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07186	KCTD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.