2. Gene
  3. KCTD1 - potassium channel tetramerization domain containing 1 Gene

KCTD1 - potassium channel tetramerization domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

BTB_2: BTB/POZ domain (32 - 122)

  • 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 Reference
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
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