FOXN1_HUMAN
ID FOXN1_HUMAN Reviewed; 648 AA.
AC O15353; B2R9Q7; O15352;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 184.
DE RecName: Full=Forkhead box protein N1;
DE AltName: Full=Winged-helix transcription factor nude;
GN Name=FOXN1; Synonyms=RONU, WHN;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANT VAL-283.
RC TISSUE=Thymus;
RX PubMed=9321431; DOI=10.1007/s002510050312;
RA Schorpp M., Hofmann M., Dear T.N., Boehm T.;
RT "Characterization of mouse and human nude genes.";
RL Immunogenetics 46:509-515(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP INVOLVEMENT IN TIDAND, AND VARIANT TIDAND 255-ARG--ALA-648 DEL.
RX PubMed=10206641; DOI=10.1038/18997;
RA Frank J., Pignata C., Panteleyev A.A., Prowse D.M., Baden H., Weiner L.,
RA Gaetaniello L., Ahmad W., Pozzi N., Cserhalmi-Friedman P.B., Aita V.M.,
RA Uyttendaele H., Gordon D., Ott J., Brissette J.L., Christiano A.M.;
RT "Exposing the human nude phenotype.";
RL Nature 398:473-474(1999).
RN [5]
RP FUNCTION, INVOLVEMENT IN TIDAND, AND VARIANT TIDAND 255-ARG--ALA-648 DEL.
RX PubMed=21507891; DOI=10.1136/jmg.2011.089532;
RA Vigliano I., Gorrese M., Fusco A., Vitiello L., Amorosi S., Panico L.,
RA Ursini M.V., Calcagno G., Racioppi L., Del Vecchio L., Pignata C.;
RT "FOXN1 mutation abrogates prenatal T-cell development in humans.";
RL J. Med. Genet. 48:413-416(2011).
RN [6]
RP INVOLVEMENT IN TIDAND.
RX PubMed=25173801; DOI=10.1016/j.clim.2014.08.005;
RA Chou J., Massaad M.J., Wakim R.H., Bainter W., Dbaibo G., Geha R.S.;
RT "A novel mutation in FOXN1 resulting in SCID: a case report and literature
RT review.";
RL Clin. Immunol. 155:30-32(2014).
RN [7]
RP REVIEW.
RX PubMed=23874334; DOI=10.3389/fimmu.2013.00187;
RA Romano R., Palamaro L., Fusco A., Giardino G., Gallo V., Del Vecchio L.,
RA Pignata C.;
RT "FOXN1: a master regulator gene of thymic epithelial development program.";
RL Front. Immunol. 4:187-187(2013).
RN [8]
RP REVIEW.
RX PubMed=24432845; DOI=10.3109/08830185.2013.870171;
RA Palamaro L., Romano R., Fusco A., Giardino G., Gallo V., Pignata C.;
RT "FOXN1 in organ development and human diseases.";
RL Int. Rev. Immunol. 33:83-93(2014).
RN [9]
RP VARIANTS TIDAND 255-ARG--ALA-648 DEL AND TRP-320.
RX PubMed=20978268; DOI=10.1182/blood-2010-06-292490;
RA Markert M.L., Marques J.G., Neven B., Devlin B.H., McCarthy E.A.,
RA Chinn I.K., Albuquerque A.S., Silva S.L., Pignata C., de Saint Basile G.,
RA Victorino R.M., Picard C., Debre M., Mahlaoui N., Fischer A., Sousa A.E.;
RT "First use of thymus transplantation therapy for FOXN1 deficiency
RT (nude/SCID): a report of 2 cases.";
RL Blood 117:688-696(2011).
RN [10]
RP VARIANT TIDAND 255-ARG--ALA-648 DEL.
RX PubMed=28636882; DOI=10.1016/j.gene.2017.06.033;
RA Radha Rama Devi A., Panday N.N., Naushad S.M.;
RT "FOXN1 Italian founder mutation in Indian family: Implications in prenatal
RT diagnosis.";
RL Gene 627:222-225(2017).
RN [11]
RP VARIANTS TLIND LYS-169; 255-ARG--ALA-648 DEL; TRP-320; ASN-321; PRO-325 AND
RP 474-GLN--ALA-648 DEL, AND INVOLVEMENT IN TLIND.
RX PubMed=31447097; DOI=10.1016/j.ajhg.2019.07.014;
RA Bosticardo M., Yamazaki Y., Cowan J., Giardino G., Corsino C., Scalia G.,
RA Prencipe R., Ruffner M., Hill D.A., Sakovich I., Yemialyanava I., Tam J.S.,
RA Padem N., Elder M.E., Sleasman J.W., Perez E., Niebur H., Seroogy C.M.,
RA Sharapova S., Gebbia J., Kleiner G.I., Peake J., Abbott J.K., Gelfand E.W.,
RA Crestani E., Biggs C., Butte M.J., Hartog N., Hayward A., Chen K.,
RA Heimall J., Seeborg F., Bartnikas L.M., Cooper M.A., Pignata C.,
RA Bhandoola A., Notarangelo L.D.;
RT "Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia,
RT revealing a crucial role of FOXN1 in supporting early thymopoiesis.";
RL Am. J. Hum. Genet. 105:549-561(2019).
RN [12]
RP VARIANT TIDTA 363-TRP--PRO-368 DELINS CYS, INVOLVEMENT IN TIDTA, VARIANTS
RP SER-242 AND SER-430, CHARACTERIZATION OF VARIANT TIDTA 363-TRP--PRO-368
RP DELINS CYS, CHARACTERIZATION OF VARIANTS SER-242 AND SER-430, AND
RP CHARACTERIZATION OF VARIANT TIDAND TRP-320.
RX PubMed=31566583; DOI=10.1172/jci127565;
RA Du Q., Huynh L.K., Coskun F., Molina E., King M.A., Raj P., Khan S.,
RA Dozmorov I., Seroogy C.M., Wysocki C.A., Padron G.T., Yates T.R.,
RA Markert M.L., de la Morena M.T., van Oers N.S.;
RT "FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in
RT humans.";
RL J. Clin. Invest. 129:4724-4738(2019).
CC -!- FUNCTION: Transcriptional regulator which regulates the development,
CC differentiation, and function of thymic epithelial cells (TECs) both in
CC the prenatal and postnatal thymus. Acts as a master regulator of the
CC TECs lineage development and is required from the onset of
CC differentiation in progenitor TECs in the developing fetus to the final
CC differentiation steps through which TECs mature to acquire their full
CC functionality. Regulates, either directly or indirectly the expression
CC of a variety of genes that mediate diverse aspects of thymus
CC development and function, including MHC Class II, DLL4, CCL25, CTSL,
CC CD40 and PAX1. Regulates the differentiation of the immature TECs into
CC functional cortical TECs (cTECs) and medullary TECs (mTECs). Essential
CC for maintenance of mTECs population in the postnatal thymus. Involved
CC in the morphogenesis and maintenance of the three-dimensional thymic
CC microstructure which is necessary for a fully functional thymus. Plays
CC an important role in the maintenance of hematopoiesis and particularly
CC T lineage progenitors within the bone marrow niche with age. Essential
CC for the vascularization of the thymus anlage. Promotes the terminal
CC differentiation of epithelial cells in the epidermis and hair
CC follicles, partly by negatively regulating the activity of protein
CC kinase C (By similarity). Plays a crucial role in the early prenatal
CC stages of T-cell ontogeny (PubMed:21507891).
CC {ECO:0000250|UniProtKB:Q61575, ECO:0000269|PubMed:21507891}.
CC -!- INTERACTION:
CC O15353; P32320: CDA; NbExp=3; IntAct=EBI-11319000, EBI-9250559;
CC O15353; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-11319000, EBI-396137;
CC O15353; Q9NQL9: DMRT3; NbExp=3; IntAct=EBI-11319000, EBI-9679045;
CC O15353; P49639: HOXA1; NbExp=3; IntAct=EBI-11319000, EBI-740785;
CC O15353; Q68G74: LHX8; NbExp=3; IntAct=EBI-11319000, EBI-8474075;
CC O15353; O60336: MAPKBP1; NbExp=3; IntAct=EBI-11319000, EBI-947402;
CC O15353; Q13526: PIN1; NbExp=3; IntAct=EBI-11319000, EBI-714158;
CC O15353; Q9H0A9-2: SPATC1L; NbExp=3; IntAct=EBI-11319000, EBI-11995806;
CC O15353; Q08117-2: TLE5; NbExp=3; IntAct=EBI-11319000, EBI-11741437;
CC O15353; Q12933: TRAF2; NbExp=3; IntAct=EBI-11319000, EBI-355744;
CC O15353; O75865-2: TRAPPC6A; NbExp=3; IntAct=EBI-11319000, EBI-8451480;
CC O15353; Q9BXA7: TSSK1B; NbExp=4; IntAct=EBI-11319000, EBI-6423734;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Expressed in thymus.
CC -!- DISEASE: T-cell immunodeficiency, congenital alopecia, and nail
CC dystrophy (TIDAND) [MIM:601705]: A disorder characterized by the
CC association of congenital alopecia, severe T-cell immunodeficiency, and
CC ridging and pitting of all nails. {ECO:0000269|PubMed:10206641,
CC ECO:0000269|PubMed:20978268, ECO:0000269|PubMed:21507891,
CC ECO:0000269|PubMed:25173801, ECO:0000269|PubMed:28636882,
CC ECO:0000269|PubMed:31566583}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: T-cell lymphopenia, infantile, with or without nail dystrophy,
CC autosomal dominant (TLIND) [MIM:618806]: An autosomal dominant disorder
CC characterized by decreased numbers of T cells, particularly cytotoxic
CC CD8+ T cells, and increased susceptibility to recurrent infections,
CC mainly respiratory viral infections. Additional features may include
CC impaired thymic development, skin abnormalities, such as atopic
CC dermatitis, and nail dystrophy. {ECO:0000269|PubMed:31447097}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: T-cell immunodeficiency with thymic aplasia (TIDTA)
CC [MIM:242700]: An autosomal recessive disorder characterized by
CC selective hypo- or aplasia of the thymus, T-cell immunodeficiency due
CC to impaired T-cell development, and increased susceptibility to viral
CC infections. {ECO:0000269|PubMed:31566583}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- WEB RESOURCE: Name=FOXN1base; Note=FOXN1 mutation db;
CC URL="http://structure.bmc.lu.se/idbase/FOXN1base/";
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DR EMBL; Y11741; CAA72417.1; -; Genomic_DNA.
DR EMBL; Y11742; CAA72417.1; JOINED; Genomic_DNA.
DR EMBL; Y11743; CAA72417.1; JOINED; Genomic_DNA.
DR EMBL; Y11744; CAA72417.1; JOINED; Genomic_DNA.
DR EMBL; Y11745; CAA72417.1; JOINED; Genomic_DNA.
DR EMBL; Y11746; CAA72417.1; JOINED; Genomic_DNA.
DR EMBL; Y11739; CAA72416.1; -; mRNA.
DR EMBL; AK313878; BAG36604.1; -; mRNA.
DR EMBL; CH471159; EAW51092.1; -; Genomic_DNA.
DR CCDS; CCDS11232.1; -.
DR RefSeq; NP_003584.2; NM_003593.2.
DR RefSeq; XP_005258103.1; XM_005258046.3.
DR PDB; 5OCN; X-ray; 2.70 A; A/B/C/D/E/F/G/H=270-366.
DR PDB; 6EL8; X-ray; 1.61 A; A/D=270-366.
DR PDBsum; 5OCN; -.
DR PDBsum; 6EL8; -.
DR AlphaFoldDB; O15353; -.
DR SMR; O15353; -.
DR BioGRID; 114034; 36.
DR IntAct; O15353; 36.
DR MINT; O15353; -.
DR STRING; 9606.ENSP00000226247; -.
DR iPTMnet; O15353; -.
DR PhosphoSitePlus; O15353; -.
DR BioMuta; FOXN1; -.
DR jPOST; O15353; -.
DR MassIVE; O15353; -.
DR MaxQB; O15353; -.
DR PaxDb; O15353; -.
DR PeptideAtlas; O15353; -.
DR PRIDE; O15353; -.
DR ProteomicsDB; 48606; -.
DR Antibodypedia; 14085; 277 antibodies from 36 providers.
DR DNASU; 8456; -.
DR Ensembl; ENST00000226247.2; ENSP00000226247.2; ENSG00000109101.8.
DR Ensembl; ENST00000579795.6; ENSP00000464645.1; ENSG00000109101.8.
DR GeneID; 8456; -.
DR KEGG; hsa:8456; -.
DR MANE-Select; ENST00000579795.6; ENSP00000464645.1; NM_001369369.1; NP_001356298.1.
DR UCSC; uc002hbj.4; human.
DR CTD; 8456; -.
DR DisGeNET; 8456; -.
DR GeneCards; FOXN1; -.
DR HGNC; HGNC:12765; FOXN1.
DR HPA; ENSG00000109101; Group enriched (esophagus, lymphoid tissue, skin, vagina).
DR MalaCards; FOXN1; -.
DR MIM; 242700; phenotype.
DR MIM; 600838; gene.
DR MIM; 601705; phenotype.
DR MIM; 618806; phenotype.
DR neXtProt; NX_O15353; -.
DR OpenTargets; ENSG00000109101; -.
DR Orphanet; 169095; Severe combined immunodeficiency due to FOXN1 deficiency.
DR PharmGKB; PA37368; -.
DR VEuPathDB; HostDB:ENSG00000109101; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000158029; -.
DR HOGENOM; CLU_031768_1_0_1; -.
DR InParanoid; O15353; -.
DR OMA; CYGQTYP; -.
DR OrthoDB; 438804at2759; -.
DR PhylomeDB; O15353; -.
DR TreeFam; TF329867; -.
DR PathwayCommons; O15353; -.
DR SignaLink; O15353; -.
DR SIGNOR; O15353; -.
DR BioGRID-ORCS; 8456; 13 hits in 1091 CRISPR screens.
DR ChiTaRS; FOXN1; human.
DR GeneWiki; FOXN1; -.
DR GenomeRNAi; 8456; -.
DR Pharos; O15353; Tbio.
DR PRO; PR:O15353; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; O15353; protein.
DR Bgee; ENSG00000109101; Expressed in gingival epithelium and 58 other tissues.
DR ExpressionAtlas; O15353; baseline and differential.
DR Genevisible; O15353; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; TAS:ProtInc.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IBA:GO_Central.
DR GO; GO:0009887; P:animal organ morphogenesis; TAS:ProtInc.
DR GO; GO:0048514; P:blood vessel morphogenesis; IEA:Ensembl.
DR GO; GO:0006952; P:defense response; TAS:ProtInc.
DR GO; GO:0008544; P:epidermis development; TAS:ProtInc.
DR GO; GO:0001942; P:hair follicle development; IEA:Ensembl.
DR GO; GO:0030216; P:keratinocyte differentiation; IEA:Ensembl.
DR GO; GO:0097535; P:lymphoid lineage cell migration into thymus; IEA:Ensembl.
DR GO; GO:0035878; P:nail development; IEA:Ensembl.
DR GO; GO:0030858; P:positive regulation of epithelial cell differentiation; IDA:BHF-UCL.
DR GO; GO:0051798; P:positive regulation of hair follicle development; IEA:Ensembl.
DR GO; GO:1902232; P:regulation of positive thymic T cell selection; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0043029; P:T cell homeostasis; IEA:Ensembl.
DR GO; GO:0002360; P:T cell lineage commitment; IEA:Ensembl.
DR GO; GO:0097536; P:thymus epithelium morphogenesis; IEA:Ensembl.
DR CDD; cd00059; FH; 1.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR001766; Fork_head_dom.
DR InterPro; IPR030456; TF_fork_head_CS_2.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR Pfam; PF00250; Forkhead; 1.
DR PRINTS; PR00053; FORKHEAD.
DR SMART; SM00339; FH; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS00658; FORK_HEAD_2; 1.
DR PROSITE; PS50039; FORK_HEAD_3; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Developmental protein; Differentiation; Disease variant;
KW DNA-binding; Hypotrichosis; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..648
FT /note="Forkhead box protein N1"
FT /id="PRO_0000091866"
FT DNA_BIND 271..367
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 1..105
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 392..445
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 458..508
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 623..648
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 42..56
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 405..435
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 69
FT /note="R -> C (in dbSNP:rs2071587)"
FT /id="VAR_020025"
FT VARIANT 169
FT /note="E -> K (in TLIND; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31447097"
FT /id="VAR_083857"
FT VARIANT 242
FT /note="P -> S (does not affect transcriptional activity as
FT shown by a transcriptional reporter assay;
FT dbSNP:rs140921495)"
FT /evidence="ECO:0000269|PubMed:31566583"
FT /id="VAR_083858"
FT VARIANT 255..648
FT /note="Missing (in TIDAND and TLIND)"
FT /evidence="ECO:0000269|PubMed:10206641,
FT ECO:0000269|PubMed:20978268, ECO:0000269|PubMed:21507891,
FT ECO:0000269|PubMed:28636882, ECO:0000269|PubMed:31447097"
FT /id="VAR_083859"
FT VARIANT 283
FT /note="A -> V"
FT /evidence="ECO:0000269|PubMed:9321431"
FT /id="VAR_010376"
FT VARIANT 320
FT /note="R -> W (in TIDAND and TLIND; severely reduced
FT transcriptional activity as shown by a transcriptional
FT reporter assay; dbSNP:rs1288977950)"
FT /evidence="ECO:0000269|PubMed:20978268,
FT ECO:0000269|PubMed:31447097, ECO:0000269|PubMed:31566583"
FT /id="VAR_083860"
FT VARIANT 321
FT /note="H -> N (in TLIND; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31447097"
FT /id="VAR_083861"
FT VARIANT 325
FT /note="L -> P (in TLIND; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31447097"
FT /id="VAR_083862"
FT VARIANT 363..368
FT /note="WKRKDP -> C (in TIDTA; decreased transcriptional
FT activity as shown by a transcriptional reporter assay)"
FT /evidence="ECO:0000269|PubMed:31566583"
FT /id="VAR_083863"
FT VARIANT 411
FT /note="R -> W (in dbSNP:rs2286520)"
FT /id="VAR_021843"
FT VARIANT 430
FT /note="P -> S (does not affect transcriptional activity as
FT shown by a transcriptional reporter assay;
FT dbSNP:rs61749867)"
FT /evidence="ECO:0000269|PubMed:31566583"
FT /id="VAR_083864"
FT VARIANT 474..648
FT /note="Missing (in TLIND)"
FT /evidence="ECO:0000269|PubMed:31447097"
FT /id="VAR_083865"
FT VARIANT 599
FT /note="A -> P (in dbSNP:rs532648)"
FT /id="VAR_020026"
FT HELIX 276..285
FT /evidence="ECO:0007829|PDB:6EL8"
FT STRAND 287..293
FT /evidence="ECO:0007829|PDB:6EL8"
FT HELIX 294..304
FT /evidence="ECO:0007829|PDB:6EL8"
FT HELIX 307..310
FT /evidence="ECO:0007829|PDB:6EL8"
FT HELIX 315..325
FT /evidence="ECO:0007829|PDB:6EL8"
FT STRAND 329..332
FT /evidence="ECO:0007829|PDB:6EL8"
FT STRAND 345..348
FT /evidence="ECO:0007829|PDB:6EL8"
FT HELIX 350..352
FT /evidence="ECO:0007829|PDB:6EL8"
FT HELIX 353..360
FT /evidence="ECO:0007829|PDB:6EL8"
SQ SEQUENCE 648 AA; 68925 MW; F32F4C95627E60DE CRC64;
MVSLPPPQSD VTLPGPTRLE GERQGDLMQA PGLPGSPAPQ SKHAGFSCSS FVSDGPPERT
PSLPPHSPRI ASPGPEQVQG HCPAGPGPGP FRLSPSDKYP GFGFEEAAAS SPGRFLKGSH
APFHPYKRPF HEDVFPEAET TLALKGHSFK TPGPLEAFEE IPVDVAEAEA FLPGFSAEAW
CNGLPYPSQE HGPQVLGSEV KVKPPVLESG AGMFCYQPPL QHMYCSSQPP FHQYSPGGGS
YPIPYLGSSH YQYQRMAPQA STDGHQPLFP KPIYSYSILI FMALKNSKTG SLPVSEIYNF
MTEHFPYFKT APDGWKNSVR HNLSLNKCFE KVENKSGSSS RKGCLWALNP AKIDKMQEEL
QKWKRKDPIA VRKSMAKPEE LDSLIGDKRE KLGSPLLGCP PPGLSGSGPI RPLAPPAGLS
PPLHSLHPAP GPIPGKNPLQ DLLMGHTPSC YGQTYLHLSP GLAPPGPPQP LFPQPDGHLE
LRAQPGTPQD SPLPAHTPPS HSAKLLAEPS PARTMHDTLL PDGDLGTDLD AINPSLTDFD
FQGNLWEQLK DDSLALDPLV LVTSSPTSSS MPPPQPPPHC FPPGPCLTET GSGAGDLAAP
GSGGSGALGD LHLTTLYSAF MELEPTPPTA PAGPSVYLSP SSKPVALA
