KCTD1 (potassium channel tetramerization domain containing 1)

Gene

• Entrez ID: 284252
• Gene name: Potassium channel tetramerization domain containing 1
• Gene symbol: KCTD1
• Synonyms (NCBI Gene): C18orf5
• Chromosome: 18
• Chromosome location: 18q11.2
• 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 a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776998	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs587776999	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs587777000	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs587777001	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777002	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777003	C>T	Pathogenic	Coding sequence variant, missense variant
rs878853124	G>T	Pathogenic	Coding sequence variant, missense variant
rs878853125	G>A	Pathogenic	Coding sequence variant, missense variant
rs886041986	G>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052617	hsa-let-7a-5p	CLASH	23622248
MIRT048196	hsa-miR-196a-5p	CLASH	23622248
MIRT1082718	hsa-miR-450b-5p	CLIP-seq
MIRT1082719	hsa-miR-4722-3p	CLIP-seq
MIRT1082720	hsa-miR-4762-3p	CLIP-seq
MIRT1082721	hsa-miR-1197	CLIP-seq
MIRT1082722	hsa-miR-29a	CLIP-seq
MIRT1082723	hsa-miR-29b	CLIP-seq
MIRT1082724	hsa-miR-29c	CLIP-seq
MIRT1082725	hsa-miR-3065-3p	CLIP-seq
MIRT1082726	hsa-miR-4436a	CLIP-seq
MIRT1082727	hsa-miR-4493	CLIP-seq
MIRT1082728	hsa-miR-4529-5p	CLIP-seq
MIRT2020660	hsa-miR-1294	CLIP-seq
MIRT2020661	hsa-miR-129-5p	CLIP-seq
MIRT2020662	hsa-miR-197	CLIP-seq
MIRT2020663	hsa-miR-23a	CLIP-seq
MIRT2020664	hsa-miR-23b	CLIP-seq
MIRT2020665	hsa-miR-23c	CLIP-seq
MIRT2020666	hsa-miR-3138	CLIP-seq
MIRT2020667	hsa-miR-3613-3p	CLIP-seq
MIRT2020668	hsa-miR-4316	CLIP-seq
MIRT2020669	hsa-miR-4677-3p	CLIP-seq
MIRT2020670	hsa-miR-4679	CLIP-seq
MIRT2020671	hsa-miR-561	CLIP-seq
MIRT1082721	hsa-miR-1197	CLIP-seq
MIRT2020661	hsa-miR-129-5p	CLIP-seq
MIRT2020662	hsa-miR-197	CLIP-seq
MIRT1082722	hsa-miR-29a	CLIP-seq
MIRT1082723	hsa-miR-29b	CLIP-seq
MIRT1082724	hsa-miR-29c	CLIP-seq
MIRT1082725	hsa-miR-3065-3p	CLIP-seq
MIRT2252336	hsa-miR-3173-3p	CLIP-seq
MIRT2252337	hsa-miR-3657	CLIP-seq
MIRT2252338	hsa-miR-3909	CLIP-seq
MIRT2252339	hsa-miR-4428	CLIP-seq
MIRT1082728	hsa-miR-4529-5p	CLIP-seq
MIRT2252340	hsa-miR-4669	CLIP-seq
MIRT2252341	hsa-miR-665	CLIP-seq
MIRT2252342	hsa-miR-892a	CLIP-seq
MIRT2555667	hsa-miR-1323	CLIP-seq
MIRT2555668	hsa-miR-182	CLIP-seq
MIRT2555669	hsa-miR-383	CLIP-seq
MIRT2555670	hsa-miR-4328	CLIP-seq
MIRT2555671	hsa-miR-4470	CLIP-seq
MIRT2555672	hsa-miR-4772-5p	CLIP-seq
MIRT2555673	hsa-miR-548a-3p	CLIP-seq
MIRT2555674	hsa-miR-548e	CLIP-seq
MIRT2555675	hsa-miR-548f	CLIP-seq
MIRT2555676	hsa-miR-548o	CLIP-seq
MIRT2555667	hsa-miR-1323	CLIP-seq
MIRT2555668	hsa-miR-182	CLIP-seq
MIRT2555669	hsa-miR-383	CLIP-seq
MIRT2555670	hsa-miR-4328	CLIP-seq
MIRT2555671	hsa-miR-4470	CLIP-seq
MIRT2555672	hsa-miR-4772-5p	CLIP-seq
MIRT2555673	hsa-miR-548a-3p	CLIP-seq
MIRT2555674	hsa-miR-548e	CLIP-seq
MIRT2555675	hsa-miR-548f	CLIP-seq
MIRT2555676	hsa-miR-548o	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS
GO:0003714	Function	Transcription corepressor activity	IBA	21873635
GO:0003714	Function	Transcription corepressor activity	IDA	19115315
GO:0005515	Function	Protein binding	IPI	25416956, 29892012, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	19115315
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0008134	Function	Transcription factor binding	IBA	21873635
GO:0008134	Function	Transcription factor binding	IPI	19115315
GO:0034451	Component	Centriolar satellite	IDA
GO:0042802	Function	Identical protein binding	IPI	25416956, 27152988, 32296183
GO:0045171	Component	Intercellular bridge	IDA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IBA	21873635
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	19115315
GO:0051260	Process	Protein homooligomerization	IEA

Other IDs

• MIM: 613420
• HGNC: 18249
• e!Ensembl: ENSG00000134504

Protein

• UniProt ID: Q719H9
• Protein name: BTB/POZ domain-containing protein KCTD1 (Potassium channel tetramerization domain-containing protein 1)
• Protein function: May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.
• PDB: 5BXB, 5BXD, 6S4L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	32 → 124	BTB/POZ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in mammary gland, kidney, brain and ovary. {ECO:0000269|PubMed:18358072}.
• Sequence:

  MSRPLITRSPASPLNNQGIPTPAQLTKSNAPVHIDVGGHMYTSSLATLTKYPESRIGRLF
  DGTEPIVLDSLKQHYFIDRDGQMFRYILNFLRTSKLLIPDDFKDYTLLYEEAKYFQLQPM
  LLEMERWKQDRETGRFSRPCECLVVRVAPDLGERITLSGDKSLIEEVFPEIGDVMCNSVN
  AGWNHDSTHVIRFPLNGYCHLNSVQVLERLQQRGFEIVGSCGGGVDSSQFSEYVLRRELR
  RTPRVPSVIRIKQEPLD

• Sequence length: 257

Pathways

Reactome:

Negative regulation of activity of TFAP2 (AP-2) family transcription factors

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aplasia cutis congenita	Aplasia Cutis Congenita	rs587777706
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hypertension	Hypertensive disease	rs13306026
Scalp-ear-nipple syndrome	SCALP-EAR-NIPPLE SYNDROME, Scalp-ear-nipple syndrome	rs587776998, rs587776999, rs587777000, rs587777001, rs587777002, rs587777003, rs878853124, rs878853125	23541344

Unknown
Disease term	Disease name	Evidence	References	Source
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	35441736
Branchio Oto Renal Syndrome	Associate	23541344
Char syndrome	Associate	33000225
Chromosome Inversion	Associate	31990937
Craniofacial Abnormalities	Associate	38296633
Death Sudden Cardiac	Associate	21658281
Diabetic Retinopathy	Associate	38194422
Ectodermal Dysplasia	Associate	23541344, 38296633
Genetic Diseases Inborn	Associate	33000225
Heart Defects Congenital	Associate	33000225
Holt Oram syndrome	Associate	33000225
Inflammation	Associate	38194422
Neoplasms	Inhibit	37597490
Scalp ear nipple syndrome	Associate	23541344, 31324836, 33000225, 38296633