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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q15911 |
| Protein name |
Zinc finger homeobox protein 3 (AT motif-binding factor 1) (AT-binding transcription factor 1) (Alpha-fetoprotein enhancer-binding protein) (Zinc finger homeodomain protein 3) (ZFH-3) |
| Protein function |
Transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signaling can repress the transcription of AFP |
| PDB |
2DA1
, 2DA2
, 2DA3
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00096 |
zf-C2H2 |
726 → 750 |
Zinc finger, C2H2 type |
Domain |
| PF00096 |
zf-C2H2 |
1596 → 1620 |
Zinc finger, C2H2 type |
Domain |
| PF00046 |
Homeodomain |
2146 → 2202 |
Homeodomain |
Domain |
| PF00046 |
Homeodomain |
2243 → 2299 |
Homeodomain |
Domain |
| PF00046 |
Homeodomain |
2642 → 2698 |
Homeodomain |
Domain |
| PF00046 |
Homeodomain |
2947 → 3003 |
Homeodomain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Not found in normal gastric mucosa but found in gastric carcinoma cells (at protein level). Expression is higher in ER-positive breast tumors than ER-negative breast tumors (at protein level). {ECO:0000269|PubMed:17330845, ECO:0000269| |
| Sequence |
MEGCDSPVVSGKDNGCGIPQHQQWTELNSTHLPDKPSSMEQSTGESHGPLDSLRAPFNER LAESTASAGPPSEPASKEVTCNECSASFASLQTYMEHHCPSARPPPPLREESASDTGEEG DEESDVENLAGEIVYQPDGSAYIVESLSQLTQGGGACGSGSGSGPLPSLFLNSLPGAGGK QGDPSCAAPVYPQIINTFHIASSFGKWFEGPDQAFPNTSALAGLSPVLHSFRVFDVRHKS NKDYLNSDGSAKSSCVSKDVPNNVDLSKFDGFVLYGKRKPILMCFLCKLSFGYVRSFVTH AVHDHRMTLSEDERKILSNKNISAIIQGIGKDKEPLVSFLEPKNKNFQHPLVSTANLIGP GHSFYGKFSGIRMEGEEALPAGSAAGPEQPQAGLLTPSTLLNLGGLTSSVLKTPITSVPL GPLASSPTKSSEGKDSGAAEGEKQEVGDGDCFSEKVEPAEEEAEEEEEEEEAEEEEEEEE EEEEEEEDEGCKGLFPSELDEELEDRPHEEPGAAAGSSSKKDLALSNQSISNSPLMPNVL QTLSRGTASTSSNSASSFVVFDGANRRNRLSFNSEGVRANVAEGGRRLDFADESANKDNA TAPEPNESTEGDDGGFVPHHQHAGSLCELGVGECPSGSGVECPKCDTVLGSSRSLGGHMT MMHSRNSCKTLKCPKCNWHYKYQQTLEAHMKEKHPEPGGSCVYCKSGQPHPRLARGESYT CGYKPFRCEVCNYSTTTKGNLSIHMQSDKHLNNMQNLQNGGGEQVFSHTAGAAAAAVAAA AAAANISSSCGAPSPTKPKTKPTWRCEVCDYETNVARNLRIHMTSEKHMHNMMLLQQNMT QIQHNRHLGLGSLPSPAEAELYQYYLAQNMNLPNLKMDSAASDAQFMMSGFQLDPAGPMA AMTPALVGGEIPLDMRLGGGQLVSEELMNLGESFIQTNDPSLKLFQCAVCNKFTTDNLDM LGLHMNVERSLSEDEWKAVMGDSYQCKLCRYNTQLKANFQLHCKTDKHVQKYQLVAHIKE GGKANEWRLKCVAIGNPVHLKCNACDYYTNSLEKLRLHTVNSRHEASLKLYKHLQQHESG VEGESCYYHCVLCNYSTKAKLNLIQHVRSMKHQRSESLRKLQRLQKGLPEEDEDLGQIFT IRRCPSTDPEEAIEDVEGPSETAADPEELAKDQEGGASSSQAEKELTDSPATSKRISFPG SSESPLSSKRPKTAEEIKPEQMYQCPYCKYSNADVNRLRVHAMTQHSVQPMLRCPLCQDM LNNKIHLQLHLTHLHSVAPDCVEKLIMTVTTPEMVMPSSMFLPAAVPDRDGNSNLEEAGK QPETSEDLGKNILPSASTEQSGDLKPSPADPGSVREDSGFICWKKGCNQVFKTSAALQTH FNEVHAKRPQLPVSDRHVYKYRCNQCSLAFKTIEKLQLHSQYHVIRAATMCCLCQRSFRT FQALKKHLETSHLELSEADIQQLYGGLLANGDLLAMGDPTLAEDHTIIVEEDKEEESDLE DKQSPTGSDSGSVQEDSGSEPKRALPFRKGPNFTMEKFLDPSRPYKCTVCKESFTQKNIL LVHYNSVSHLHKLKRALQESATGQPEPTSSPDNKPFKCNTCNVAYSQSSTLEIHMRSVLH QTKARAAKLEAASGSSNGTGNSSSISLSSSTPSPVSTSGSNTFTTSNPSSAGIAPSSNLL SQVPTESVGMPPLGNPIGANIASPSEPKEANRKKLADMIASRQQQQQQQQQQQQQQQQQQ QAQTLAQAQAQVQAHLQQELQQQAALIQSQLFNPTLLPHFPMTTETLLQLQQQQHLLFPF YIPSAEFQLNPEVSLPVTSGALTLTGTGPGLLEDLKAQVQVPQQSHQQILPQQQQNQLSI AQSHSALLQPSQHPEKKNKLVIKEKEKESQRERDSAEGGEGNTGPKETLPDALKAKEKKE LAPGGGSEPSMLPPRIASDARGNATKALLENFGFELVIQYNENKQKVQKKNGKTDQGENL EKLECDSCGKLFSNILILKSHQEHVHQNYFPFKQLERFAKQYRDHYDKLYPLRPQTPEPP PPPPPPPPPPLPAAPPQPASTPAIPASAPPITSPTIAPAQPSVPLTQLSMPMELPIFSPL MMQTMPLQTLPAQLPPQLGPVEPLPADLAQLYQHQLNPTLLQQQNKRPRTRITDDQLRVL RQYFDINNSPSEEQIKEMADKSGLPQKVIKHWFRNTLFKERQRNKDSPYNFSNPPITSLE ELKIDSRPPSPEPPKQEYWGSKRSSRTRFTDYQLRVLQDFFDANAYPKDDEFEQLSNLLN LPTRVIVVWFQNARQKARKNYENQGEGKDGERRELTNDRYIRTSNLNYQCKKCSLVFQRI FDLIKHQKKLCYKDEDEEGQDDSQNEDSMDAMEILTPTSSSCSTPMPSQAYSAPAPSANN TASSAFLQLTAEAEELATFNSKTEAGDEKPKLAEAPSAQPNQTQEKQGQPKPELQQQEQP EQKTNTPQQKLPQLVSLPSLPQPPPQAPPPQCPLPQSSPSPSQLSHLPLKPLHTSTPQQL ANLPPQLIPYQCDQCKLAFPSFEHWQEHQQLHFLSAQNQFIHPQFLDRSLDMPFMLFDPS NPLLASQLLSGAIPQIPASSATSPSTPTSTMNTLKRKLEEKASASPGENDSGTGGEEPQR DKRLRTTITPEQLEILYQKYLLDSNPTRKMLDHIAHEVGLKKRVVQVWFQNTRARERKGQ FRAVGPAQAHRRCPFCRALFKAKTALEAHIRSRHWHEAKRAGYNLTLSAMLLDCDGGLQM KGDIFDGTSFSHLPPSSSDGQGVPLSPVSKTMELSPRTLLSPSSIKVEGIEDFESPSMSS VNLNFDQTKLDNDDCSSVNTAITDTTTGDEGNADNDSATGIATETKSSSAPNEGLTKAAM MAMSEYEDRLSSGLVSPAPSFYSKEYDNEGTVDYSETSSLADPCSPSPGASGSAGKSGDS GDRPGQKRFRTQMTNLQLKVLKSCFNDYRTPTMLECEVLGNDIGLPKRVVQVWFQNARAK EKKSKLSMAKHFGINQTSYEGPKTECTLCGIKYSARLSVRDHIFSQQHISKVKDTIGSQL DKEKEYFDPATVRQLMAQQELDRIKKANEVLGLAAQQQGMFDNTPLQALNLPTAYPALQG IPPVLLPGLNSPSLPGFTPSNTALTSPKPNLMGLPSTTVPSPGLPTSGLPNKPSSASLSS PTPAQATMAMGPQQPPQQQQQQQQPQVQQPPPPPAAQPPPTPQLPLQQQQQRKDKDSEKV KEKEKAHKGKGEPLPVPKKEKGEAPTATAATISAPLPTMEYAVDPAQLQALQAALTSDPT ALLTSQFLPYFVPGFSPYYAPQIPGALQSGYLQPMYGMEGLFPYSPALSQALMGLSPGSL LQQYQQYQQSLQEAIQQQQQRQLQQQQQQKVQQQQPKASQTPVPPGAPSPDKDPAKESPK PEEQKNTPREVSPLLPKLPEEPEAESKSADSLYDPFIVPKVQYKLVCRKCQAGFSDEEAA RSHLKSLCFFGQSVVNLQEMVLHVPTGGGGGGSGGGGGGGGGGGGGGSYHCLACESALCG EEALSQHLESALHKHRTITRAARNAKEHPSLLPHSACFPDPSTASTSQSAAHSNDSPPPP SAAAPSSASPHASRKSWPQVVSRASAAKPPSFPPLSSSSTVTSSSCSTSGVQPSMPTDDY SEESDTDLSQKSDGPASPVEGPKDPSCPKDSGLTSVGTDTFRL
|
|
| Sequence length |
3703 |
| Interactions |
View interactions |
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|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Conflicting classifications of pathogenicity |
rs148383343 |
RCV005898589 |
| Adrenocortical carcinoma, hereditary |
Conflicting classifications of pathogenicity |
rs143351192 |
RCV005912232 |
| Atrial fibrillation, familial, 8 |
risk factor |
rs12931021 |
RCV003444097 |
| Autism spectrum disorder |
Likely benign |
rs2507195645, rs2035877112 |
RCV003127350 RCV003128052 |
| Cervical cancer |
Benign |
rs143237537 |
RCV005935108 |
| Cholangiocarcinoma |
Conflicting classifications of pathogenicity; Benign |
rs148383343, rs75174704, rs143351192 |
RCV005898593 RCV005870994 RCV005912234 |
| Clear cell carcinoma of kidney |
Conflicting classifications of pathogenicity |
rs148383343 |
RCV005898590 |
| Colon adenocarcinoma |
Benign; Likely benign; Conflicting classifications of pathogenicity |
rs527561596, rs148524035, rs143237537, rs148383343 |
RCV005929438 RCV005938940 RCV005933633 RCV005898588 |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
rs2507414275 |
RCV004558055 |
| Gastric cancer |
Benign |
rs75174704, rs143237537 |
RCV005871396 RCV005935110 |
| Hepatocellular carcinoma |
Benign |
rs143237537 |
RCV005933634 |
| Lung cancer |
Conflicting classifications of pathogenicity |
rs148383343, rs143351192 |
RCV005898594 RCV005912235 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs75174704 |
RCV005870993 |
| Malignant tumor of esophagus |
Benign |
rs143237537 |
RCV005935106 |
| Malignant tumor of urinary bladder |
Benign; Likely benign |
rs142939235 |
RCV005893876 |
| Melanoma |
Conflicting classifications of pathogenicity |
rs148383343, rs143351192 |
RCV005898592 RCV005912233 |
| Neurodevelopmental abnormality |
Likely benign |
rs145239736 |
RCV001264696 |
| Nonpapillary renal cell carcinoma |
Benign |
rs143237537, rs75174704 |
RCV005935107 RCV005870992 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs143237537 |
RCV005935111 |
| Prostate cancer, somatic |
Conflicting classifications of pathogenicity |
rs727502780 |
RCV000019797 |
| Sarcoma |
Benign |
rs143237537 |
RCV005935109 |
| Short stature |
Uncertain significance |
rs774848265, rs769603301 |
RCV000736196 RCV000736197 |
| Thymoma |
Benign |
rs143237537 |
RCV005935112 |
| Thyroid cancer, nonmedullary, 1 |
Benign; Conflicting classifications of pathogenicity |
rs143237537, rs148383343 |
RCV005935113 RCV005898591 |
| Uterine corpus endometrial carcinoma |
Benign |
rs143237537 |
RCV005935114 |
| ZFHX3-related disorder |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs10852515, rs740178, rs61735550, rs12599442, rs374416547, rs751575363, rs34918837, rs142939235, rs199873559, rs761344900, rs750348888, rs541875856, rs2229288, rs139895950, rs373609465, rs140481719, rs148618101, rs757316139, rs8046150, rs201339061, rs117011203, rs62640011, rs544296333, rs142316393, rs376713069, rs376311468, rs16971436, rs1411518493, rs372741038, rs62639304, rs560840757, rs2073852, rs61735549, rs699444, rs2229290, rs116519588, rs535536647, rs369675306, rs148015098, rs79037957, rs2228200, rs62053192, rs62639999, rs7193297, rs113497421, rs144657961, rs138535630, rs746268093, rs202140641, rs141939410, rs62640010, rs147120168, rs62640008, rs2213978, rs150096812, rs780736697, rs150043800, rs62640007, rs186640909, rs202071159, rs2229287, rs367610293, rs371090522, rs148778425, rs148524035, rs75174704, rs573445135, rs144573608, rs200561133, rs200609704, rs147672861, rs58480263, rs140265460, rs374866698, rs552696439, rs1163046025, rs75848621, rs1435666095, rs1597243938, rs140273758, rs367687288, rs143561313, rs576903188, rs62051555, rs750444062, rs200133878, rs149645127, rs532505093, rs536413540, rs11075951, rs2229289, rs147445846, rs62053190, rs2229286, rs62639997, rs2228199, rs759375939, rs371914920, rs935823335, rs747303430, rs145239736, rs56991537, rs143237537, rs62053191, rs148383343, rs200992486, rs4788682, rs140602496, rs190630380, rs778016374, rs149133285, rs77124117, rs201978300, rs117523752, rs755516522, rs143781722, rs143351192, rs147131884, rs139430946, rs12930835, rs62640000, rs143119253 View all (107 more) |
RCV003984016 RCV003976191 RCV003976199 RCV003973348 RCV003964382 RCV003916774 RCV003974021 RCV003977310 RCV003974078 RCV003976385 RCV003955241 RCV003954149 RCV003938938 RCV003906759 RCV003929072 RCV003954150 RCV003929073 RCV003966370 RCV003929074 RCV003929075 RCV003938939 RCV003938940 RCV003966371 RCV003954151 RCV003938941 RCV003919725 RCV003919747 RCV003929700 RCV003931860 RCV003974364 RCV003896299 RCV003904120 RCV003904210 RCV003904286 RCV003906790 RCV003974130 RCV003974134 RCV003979553 RCV003979801 RCV003984764 RCV003911792 RCV003897402 RCV003914174 RCV003914248 RCV003916884 RCV003964424 RCV003973876 RCV003979506 RCV003984575 RCV003911556 RCV003933855 RCV003934057 RCV003961584 RCV003961725 RCV003961839 RCV003963971 RCV003963980 RCV003954957 RCV003981239 RCV003919405 RCV003919450 RCV003919562 RCV003914651 RCV003941370 RCV003924540 RCV003924577 RCV003924588 RCV003939485 RCV003939728 RCV003959376 RCV003961430 RCV003924326 RCV003924489 RCV003924509 RCV003924532 RCV003924730 RCV003937017 RCV003924744 RCV003949242 RCV003959041 RCV003959069 RCV003954672 RCV003956934 RCV003957080 RCV003969306 RCV003922078 RCV003922314 RCV003924278 RCV003924280 RCV003927002 RCV003931973 RCV003932217 RCV003932262 RCV003934276 RCV003936782 RCV003936798 RCV003944333 RCV003956706 RCV003964306 RCV003979176 RCV003979193 RCV003964378 RCV003981849 RCV003981911 RCV003981923 RCV003982202 RCV003957220 RCV003957236 RCV003957306 RCV003971840 RCV003963841 RCV003967020 RCV003976611 RCV003962175 RCV003976311 RCV003976394 RCV003976472 RCV003962648 RCV003913268 RCV003983293 RCV003913269 RCV003905826 RCV003920668 RCV003930494 RCV003940390 RCV003910502 RCV003954732 RCV003962977 RCV003918628 RCV003931477 RCV003936262 RCV003928644 RCV003928645 RCV003918629 RCV003918630 RCV003973011 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
36103249 |
| Adenoma |
Associate |
28713972 |
| Alzheimer Disease |
Associate |
30598117 |
| Anxiety |
Associate |
35577822 |
| Apraxia oculomotor Cogan type |
Associate |
38035881 |
| Atrial Fibrillation |
Associate |
19597491, 19597492, 21107608, 21760908, 22384221, 22726630, 22776031, 23132824, 23428961, 24239840, 24910551, 24983873, 25539802, 26267381, 26272656, 26631084, 27261248, 28007413, 28381281, 29624624, 30180182, 30760287, 33155827, 33350184, 34884836, 37824462, 38164777 View all (12 more) |
| Atrial Standstill |
Associate |
28381281 |
| Autism Spectrum Disorder |
Associate |
38412861 |
| Autoimmune Diseases of the Nervous System |
Associate |
39615603 |
| Brachydactyly |
Associate |
38412861 |
| Brain Neoplasms |
Associate |
33479213 |
| Breast Neoplasms |
Inhibit |
16932943, 20720010, 21367855 |
| Breast Neoplasms |
Associate |
18416817, 18796146, 22452784, 25501155, 36476423 |
| Brugada Syndrome |
Associate |
34884836 |
| Carcinogenesis |
Associate |
24651376, 38412861 |
| Carcinogenesis |
Inhibit |
36476423 |
| Carcinoma Acinar Cell |
Associate |
34629449 |
| Carcinoma Adenosquamous |
Associate |
31958074 |
| Carcinoma Basal Cell |
Associate |
33928395 |
| Carcinoma Non Small Cell Lung |
Associate |
23144151, 32653938, 35226388, 35798829 |
| Cardiovascular Diseases |
Associate |
28515798 |
| Cerebral Infarction |
Associate |
19597491, 28007413, 32202197, 37653506 |
| Cleft Palate |
Associate |
38412861 |
| Cognition Disorders |
Associate |
39615603 |
| Colonic Neoplasms |
Associate |
28713972 |
| Colorectal Neoplasms |
Associate |
28713972 |
| Communicable Diseases |
Associate |
30598117 |
| Coronary Artery Disease |
Associate |
24983873 |
| Coronary Disease |
Associate |
25797214 |
| COVID 19 |
Associate |
37653506 |
| Developmental Disabilities |
Associate |
38412861 |
| Diabetes Mellitus |
Associate |
25797214 |
| Dyslipidemias |
Associate |
25797214 |
| Embolic Stroke |
Associate |
19597491, 22306652, 25961151, 26708676 |
| Encephalitis Viral |
Associate |
30598117 |
| Endometrial Neoplasms |
Associate |
26330387, 33536036 |
| Gastroschisis |
Associate |
32163230 |
| Growth Disorders |
Associate |
30809043, 38412861 |
| Hematologic Neoplasms |
Associate |
39615603 |
| Hepatoblastoma |
Associate |
33368532 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
21367855, 22452784 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate |
12865944 |
| Hereditary Sensory and Autonomic Neuropathies |
Associate |
38035881 |
| Heterotaxy Syndrome |
Associate |
28381281 |
| Hirschsprung Disease |
Associate |
29093530 |
| Hodgkin Disease |
Associate |
12865944 |
| Hyperglycinemia Nonketotic |
Associate |
38035881 |
| Hypertension |
Associate |
25797214 |
| Infarction Anterior Cerebral Artery |
Associate |
26708676 |
| Inflammation |
Associate |
19132087, 30180182 |
| Intellectual Disability |
Associate |
38412861 |
| Ischemic Attack Transient |
Associate |
26631084 |
| Ischemic Stroke |
Associate |
26631084 |
| Lown Ganong Levine Syndrome |
Associate |
33155827 |
| Lung Diseases |
Associate |
33479213 |
| Lymphatic Metastasis |
Inhibit |
23144151 |
| Motor Disorders |
Associate |
35577822 |
| Mucocutaneous Lymph Node Syndrome |
Associate |
19132087, 25539802 |
| Neoplasm Invasiveness |
Inhibit |
22791392 |
| Neoplasm Metastasis |
Associate |
33479213 |
| Neoplasms |
Inhibit |
16932943, 20720010, 21367855, 22452784, 26330387, 28713972, 28984200, 33499898, 36476423, 36613756 |
| Neoplasms |
Associate |
18796146, 22791392, 23144151, 24651376, 32651179, 32653938, 33933102, 34667026 |
| Neurodegenerative Diseases |
Associate |
35577822 |
| Neuroinflammatory Diseases |
Associate |
39615603 |
| Osteosarcoma |
Associate |
32862606 |
| Polyps |
Associate |
28713972 |
| Post Acute COVID 19 Syndrome |
Associate |
39615603 |
| Prosopagnosia |
Associate |
36097363 |
| Prostate cancer familial |
Associate |
19035517 |
| Prostatic Neoplasms |
Associate |
16932943, 18416817, 18796146, 31134918, 35347810 |
| Prostatic Neoplasms |
Inhibit |
19035517 |
| Prostatic Neoplasms Castration Resistant |
Associate |
33771885 |
| Retinal Dysplasia |
Associate |
22791392 |
| Sick Sinus Syndrome |
Associate |
33580673 |
| Small Cell Lung Carcinoma |
Associate |
38181741 |
| Spinocerebellar Ataxias |
Associate |
38035881 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
22791392 |
| Stomach Neoplasms |
Associate |
14978340, 33933102 |
| Stroke |
Associate |
22776031, 30760287, 32202197, 34727735 |
| Thromboembolism |
Associate |
28007413 |
| Uterine Cervical Neoplasms |
Associate |
32718341, 35205332 |
|