KDF1 (keratinocyte differentiation factor 1)

Gene

• Entrez ID: 126695
• Gene name: Keratinocyte differentiation factor 1
• Gene symbol: KDF1
• Synonyms (NCBI Gene): C1orf172, ECTD12
• Disease Acronyms (UniProt): ECTD12
• Chromosome: 1
• Chromosome location: 1p36.11

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519508	G>T	Pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003334	Process	Keratinocyte development	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0010482	Process	Regulation of epidermal cell division	IBA	21873635
GO:0010482	Process	Regulation of epidermal cell division	ISS
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	ISS
GO:0030054	Component	Cell junction	IBA	21873635
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	ISS
GO:0031252	Component	Cell leading edge	IEA
GO:0045606	Process	Positive regulation of epidermal cell differentiation	ISS
GO:0048589	Process	Developmental growth	ISS
GO:0060887	Process	Limb epidermis development	ISS
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0072686	Component	Mitotic spindle	IDA
GO:2000647	Process	Negative regulation of stem cell proliferation	ISS

Other IDs

• MIM: 616758
• HGNC: 26624
• e!Ensembl: ENSG00000175707

Protein

• UniProt ID: Q8NAX2
• Protein name: Keratinocyte differentiation factor 1
• Protein function: Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity). {ECO:0000250|UniPro
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15551	DUF4656	34 → 398	Domain of unknown function (DUF4656)	Family

• Sequence:

  MPRPGHPRPASGPPRLGPWERPTELCLETYDKPPQPPPSRRTRRPDPKDPGHHGPESITF
  ISGSAEPALESPTCCLLWRPWVWEWCRAAFCFRRCRDCLQRCGACVRGCSPCLSTEDSTE
  GTAEANWAKEHNGVPPSPDRAPPSRRDGQRLKSTMGSSFSYPDVKLKGIPVYPYPRATSP
  APDADSCCKEPLADPPPMRHSLPSTFASSPRGSEEYYSFHESDLDLPEMGSGSMSSREID
  VLIFKKLTELFSVHQIDELAKCTSDTVFLEKTSKISDLISSITQDYHLDEQDAEGRLVRG
  IIRISTRKSRARPQTSEGRSTRAAAPTAAAPDSGHETMVGSGLSQDELTVQISQETTADA
  IARKLRPYGAPGYPASHDSSFQGTDTDSSGAPLLQVYC

• Sequence length: 398

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Ectodermal dysplasia	ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157	27838789
Hypohidrotic ectodermal dysplasia	Autosomal dominant hypohidrotic ectodermal dysplasia	rs104894415, rs28937872, rs104894416
Hypohidrotic ectodermal dysplasia, x-linked	Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)	rs132630308, rs132630310, rs132630311, rs132630312, rs132630313, rs132630314, rs132630316, rs132630317, rs132630318, rs1569404873, rs1569406514, rs132630321, rs387907197, rs397516654, rs397516656, rs397516657, rs397516659, rs397516660, rs397516661, rs397516662, rs397516664, rs397516665, rs397516666, rs397516667, rs397516668, rs397516670, rs397516671, rs397516672, rs397516675, rs397516676, rs397516677, rs397516679, rs397516681, rs397516682, rs727504814, rs727505013, rs727504417, rs727503008, rs727503011, rs727505089, rs727504537, rs727504649, rs727503007, rs727503010, rs876657640, rs876657685, rs876657684, rs876657686, rs876657641, rs876657642, rs876657687, rs876657639, rs879255551, rs879255552, rs886039344, rs886039347, rs886042021, rs1057517731, rs1057520742, rs1057521131, rs1064793104, rs1064793105, rs749830948, rs1131692034, rs1556110379, rs1555972067, rs1556110934, rs1556039088, rs1556039084, rs1556092261, rs1556098384, rs1556098570, rs1556098733, rs1556110308, rs1556098978, rs886042183, rs1555972071, rs1569404780, rs1569272203, rs1569272528, rs1569384962, rs1569404950, rs1569407150, rs1569407346, rs1569272328, rs1569272194, rs1602618255, rs1602618398, rs1602622972, rs1602624745, rs1602614385, rs780966428, rs1602618442, rs1602625000, rs1602614410, rs1602221405, rs2019017595, rs2020137674, rs2020138975, rs2020139065, rs2020255486, rs2020140911	27838789
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Keratosis pilaris	Keratosis pilaris	rs483353013

Unknown
Disease term	Disease name	Evidence	References	Source
Gout	Gout			GWAS
Diabetes	Diabetes			GWAS
Hypogonadism	Hypogonadism			GWAS
Coronary artery disease	Coronary artery disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	35635202
Anodontia	Associate	36293320
Congenital Abnormalities	Associate	36293320
Focal Epithelial Hyperplasia	Associate	36293320
Neoplasms Glandular and Epithelial	Associate	36293320
Tooth Abnormalities	Associate	36293320