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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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Q8WYB5 |
| Protein name |
Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor) |
| Protein function |
Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex |
| PDB |
5U2J
, 6OIE
, 8E4V
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00628 |
PHD |
271 → 320 |
PHD-finger |
Domain |
| PF17772 |
zf-MYST |
717 → 771 |
MYST family zinc finger domain |
Domain |
| PF01853 |
MOZ_SAS |
776 → 954 |
MOZ/SAS family |
Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. {ECO:0000269|PubMed:10497217}. |
| Sequence |
MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSV LKVTNKGLASYKDPDNPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEE PNGSSLKNIEKYLRSQSDLTSTTNNPAFQQRLRLGAKRAVNNGRLLKDGPQYRVNYGSLD GKGAPQYPSAFPSSLPPVSLLPHEKDQPRADPIPICSFCLGTKESNREKKPEELLSCADC GSSGHPSCLKFCPELTTNVKALRWQCIECKTCSACRVQGRNADNMLFCDSCDRGFHMECC DPPLSRMPKGMWICQVCRPKKKGRKLLHEKAAQIKRRYAKPIGRPKNKLKQRLLSVTSDE GSMNAFTGRGSPGRGQKTKVCTTPSSGHAASGKDSSSRLAVTDPTRPGATTKITTTSTYI SASTLKVNKKTKGLIDGLTKFFTPSPDGRRSRGEIIDFSKHYRPRKKVSQKQSCTSHVLA TGTTQKLKPPPSSLPPPTPISGQSPSSQKSSTATSSPSPQSSSSQCSVPSLSSLTTNSQL KALFDGLSHIYTTQGQSRKKGHPSYAPPKRMRRKTELSSTAKSKAHFFGKRDIRSRFISH SSSSSWGMARGSIFKAIAHFKRTTFLKKHRMLGRLKYKVTPQMGTPSPGKGSLTDGRIKP DQDDDTEIKINIKQESADVNVIGNKDVVTEEDLDVFKQAQELSWEKIECESGVEDCGRYP SVIEFGKYEIQTWYSSPYPQEYARLPKLYLCEFCLKYMKSKNILLRHSKKCGWFHPPANE IYRRKDLSVFEVDGNMSKIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTKNDEKGCHLV GYFSKEKLCQQKYNVSCIMIMPQHQRQGFGRFLIDFSYLLSRREGQAGSPEKPLSDLGRL SYLAYWKSVILEYLYHHHERHISIKAISRATGMCPHDIATTLQHLHMIDKRDGRFVIIRR EKLILSHMEKLKTCSRANELDPDSLRWTPILISNAAVSEEEREAEKEAERLMEQASCWEK EEQEILSTRANSRQSPAKVQSKNKYLHSPESRPVTGERGQLLELSKESSEEEEEEEDEEE EEEEEEEEEDEEEEEEEEEEEEEENIQSSPPRLTKPQSVAIKRKRPFVLKKKRGRKRRRI NSSVTTETISETTEVLNEPFDNSDEERPMPQLEPTCEIEVEEDGRKPVLRKAFQHQPGKK RQTEEEEGKDNHCFKNADPCRNNMNDDSSNLKEGSKDNPEPLKCKQVWPKGTKRGLSKWR QNKERKTGFKLNLYTPPETPMEPDEQVTVEEQKETSEGKTSPSPIRIEEEVKETGEALLP QEENRREETCAPVSPNTSPGEKPEDDLIKPEEEEEEEEEEEEEEEEEEGEEEEGGGNVEK DPDGAKSQEKEEPEISTEKEDSARLDDHEEEEEEDEEPSHNEDHDADDEDDSHMESAEVE KEELPRESFKEVLENQETFLDLNVQPGHSNPEVLMDCGVDLTASCNSEPKELAGDPEAVP ESDEEPPPGEQAQKQDQKNSKEVDTEFKEGNPATMEIDSETVQAVQSLTQESSEQDDTFQ DCAETQEACRSLQNYTRADQSPQIATTLDDCQQSDHSSPVSSVHSHPGQSVRSVNSPSVP ALENSYAQISPDQSAISVPSLQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENY ENPSSYDSTMGGSICGNGSSQNSCSYSNLTSSSLTQSSCAVTQQMSNISGSCSMLQQTSI SSPPTCSVKSPQGCVVERPPSSSQQLAQCSMAANFTPPMQLAEIPETSNANIGLYERMGQ SDFGAGHYPQPSATFSLAKLQQLTNTLIDHSLPYSHSAAVTSYANSASLSTPLSNTGLVQ LSQSPHSVPGGPQAQATMTPPPNLTPPPMNLPPPLLQRNMAASNIGISHSQRLQTQIASK GHISMRTKSASLSPAAATHQSQIYGRSQTVAMQGPARTLTMQRGMNMSVNLMPAPAYNVN SVNMNMNTLNAMNGYSMSQPMMNSGYHSNHGYMNQTPQYPMQMQMGMMGTQPYAQQPMQT PPHGNMMYTAPGHHGYMNTGMSKQSLNGSYMRR
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|
| Sequence length |
2073 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
Pathogenic |
rs369027010 |
RCV002246470 |
| Autosomal dominant KAT6B-related disorders |
Likely pathogenic |
rs1846100784 |
RCV001267662 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type |
Pathogenic; Likely pathogenic |
rs2134165472, rs2134241204, rs2134240789, rs761860621, rs199470480, rs2134240152, rs2133733164, rs2548333540, rs2548332680, rs906740657, rs863224883, rs2549198858, rs2549169772, rs2548990073, rs1554846300, rs886041207, rs1049569566, rs754348627, rs2549170103, rs2549213434, rs2549203895, rs1169094796, rs2549214778, rs1057516033, rs199470479, rs199470483, rs199470468, rs199470476, rs1554843829, rs199470477, rs199470482, rs1554845902, rs924532501, rs1554843815, rs1554843880, rs751215527, rs1554845880, rs387907364, rs199470484, rs1589845386, rs1589832003, rs1589824355, rs1589831585, rs1589842816, rs1845433207, rs1842975561, rs1841745686, rs1846092532, rs2549171488, rs1842737894 View all (35 more) |
RCV004594367 RCV001706921 RCV001754555 RCV002471167 RCV003319322 RCV002243599 RCV002272664 RCV002283995 RCV002287212 RCV002470459 RCV000195677 RCV003223443 RCV003127359 RCV004796780 RCV003225659 RCV001028070 RCV003234879 RCV003314363 RCV003338008 RCV003397193 RCV003482189 RCV004555392 RCV004594978 RCV000408626 RCV000023482 RCV000023483 RCV000023484 RCV000023485 RCV000505202 RCV000032258 RCV000032259 RCV000578470 RCV004798843 RCV001264410 RCV002283500 RCV000677647 RCV000677648 RCV000043511 RCV000043512 RCV000789017 RCV000850565 RCV000995790 RCV000995791 RCV001030030 RCV001198210 RCV001253318 RCV001254592 RCV001257975 RCV004594265 RCV002464441 |
| Brain small vessel disease 1 with or without ocular anomalies |
Pathogenic |
rs369027010 |
RCV002246470 |
| Chromatinopathy |
Likely pathogenic |
rs1846182844 |
RCV001261362 |
| Epilepsy, familial temporal lobe, 1 |
Pathogenic |
rs199470477 |
RCV002054533 |
| Genitopatellar syndrome |
Pathogenic; Likely pathogenic |
rs2134234910, rs1842099343, rs1845712748, rs2134235789, rs2134235713, rs2134249204, rs2134240789, rs2134234642, rs2134159675, rs2134239492, rs199470469, rs199470472, rs199470478, rs2134232474, rs2467005062, rs2549208798, rs2549197942, rs2549169285, rs1314336566, rs2549196742, rs2549198858, rs2549184163, rs2549184173, rs2549207711, rs2549182881, rs2549203895, rs2549168678, rs2549182848, rs1845433207, rs2549197648, rs1057516033, rs199470470, rs199470475, rs199470473, rs199470477, rs924532501, rs1554843815, rs1564628365, rs1564632652, rs199470484, rs1589846743, rs1589832003, rs774508465, rs1589844592, rs1589844927, rs1846135896, rs1846092532 View all (32 more) |
RCV001645000 RCV001335572 RCV001335574 RCV001376024 RCV001382519 RCV001381204 RCV003154190 RCV001808884 RCV001809179 RCV001824271 RCV000023491 RCV000023488 RCV000023486 RCV002226889 RCV002806406 RCV003015822 RCV003024257 RCV003035407 RCV003066024 RCV002789988 RCV002789989 RCV003140559 RCV003314422 RCV003333816 RCV003883397 RCV003482189 RCV003531302 RCV003646316 RCV003646526 RCV004584150 RCV003152705 RCV000023487 RCV000023489 RCV000023490 RCV000641704 RCV005223010 RCV001264410 RCV000680015 RCV000687136 RCV001380964 RCV000802120 RCV000850565 RCV000988390 RCV000988392 RCV000988393 RCV001232046 RCV001257975 |
| Hemorrhage, intracerebral, susceptibility to |
Pathogenic |
rs369027010 |
RCV002246470 |
| Intellectual disability |
Pathogenic |
rs886041207, rs1554843977, rs1841873265, rs1846247159 |
RCV001257725 RCV001257637 RCV001257723 RCV001257724 |
| KAT6B-realted disoder |
Pathogenic |
rs1564628365 |
RCV002245583 |
| KAT6B-related disorder |
Pathogenic; Likely pathogenic |
rs199470472, rs886041207, rs2549182925, rs2549202399, rs2549213434, rs2549182881, rs2549199460, rs1554843815, rs1564628365 |
RCV005222760 RCV005869196 RCV004545853 RCV004545862 RCV004698882 RCV004759337 RCV004536938 RCV004527691 RCV005223119 |
| KAT6B-related multiple congenital anomalies syndrome |
Pathogenic |
rs199470484 |
RCV004786317 |
| KAT6B-Related Spectrum Disorders |
Pathogenic |
rs199470470, rs1554845810 |
RCV006268086 RCV000578421 |
| KBG syndrome |
Pathogenic |
rs1564606246 |
RCV000760264 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant |
Pathogenic |
rs369027010 |
RCV002246470 |
| Neurodevelopmental disorder |
Pathogenic |
rs1381894692, rs2549171488 |
RCV001374893 RCV001374957 |
| Retinal arterial tortuosity |
Pathogenic |
rs369027010 |
RCV002246470 |
| See cases |
Likely pathogenic |
rs2134236431, rs2549160371 |
RCV002252425 RCV002287710 |
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| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
35396535 |
| Alcohol Related Disorders |
Associate |
34519438 |
| Aortic Aneurysm Abdominal |
Associate |
26767057 |
| Blepharophimosis |
Associate |
37658610 |
| Blepharophimosis Ptosis and Epicanthus Inversus |
Associate |
24458743 |
| Blepharophimosis syndrome Ohdo type |
Associate |
23395478, 37658610, 38178270, 39986017 |
| Bone Diseases Developmental |
Associate |
28286003 |
| Brachydactyly Long Thumb Type |
Associate |
25424711 |
| Carcinoma Hepatocellular |
Associate |
34464167 |
| Carcinoma Renal Cell |
Inhibit |
37365518 |
| Colorectal Neoplasms |
Associate |
37272875 |
| Congenital Abnormalities |
Associate |
35885957 |
| Disease |
Associate |
37288707 |
| Eye Abnormalities |
Associate |
37658610 |
| Facial Pain |
Associate |
34519438 |
| Familial paroxysmal dystonia |
Associate |
15147375 |
| Fractures Bone |
Associate |
34519438 |
| Genetic Diseases Inborn |
Associate |
40441421 |
| Genitopatellar Syndrome |
Associate |
24458743, 25424711, 30900427, 34519438, 37658610, 40441421 |
| Infections |
Associate |
34519438 |
| Intellectual Disability |
Associate |
25424711, 34519438 |
| Iridogoniodysgenesis and skeletal anomalies |
Associate |
34519438 |
| Joint Dislocations |
Associate |
37658610 |
| Keratoconus |
Associate |
34519438 |
| Language Development Disorders |
Associate |
37658610 |
| Leiomyoma |
Associate |
25621995, 25875009, 28591699, 31027501, 35575789 |
| Leukemia |
Associate |
23063713, 36754959, 37031220 |
| Leukemia Myeloid Acute |
Associate |
12619164 |
| Leukemia Myelomonocytic Acute |
Associate |
15147375 |
| Malocclusion |
Associate |
24075665, 24698832 |
| Malocclusion Angle Class III |
Associate |
24075665 |
| Metatarsus Varus |
Associate |
25424711 |
| Muscle Hypotonia |
Associate |
25424711 |
| Myelodysplastic Syndromes |
Associate |
12542485 |
| Neoplasms |
Associate |
16387653, 16407074, 24294372, 25621995, 28286003, 36639835, 37365518 |
| Neoplasms |
Inhibit |
34464167 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
15147375 |
| Prostatic Neoplasms |
Associate |
24294372 |
| Rapadilino syndrome |
Associate |
37658610 |
| Reflex Abnormal |
Associate |
37658610 |
| Retinal Dysplasia |
Associate |
37658610 |
| Retroperitoneal Neoplasms |
Associate |
25875009 |
| Sarcoma |
Associate |
35575789 |
| Sarcoma Endometrial Stromal |
Associate |
35575789 |
| Say syndrome |
Associate |
23395478 |
| Scoliosis |
Associate |
32448279 |
| Speech Disorders |
Associate |
38178270 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
30041677 |
| Substance Related Disorders |
Associate |
37658610 |
| Thyroiditis |
Associate |
25424711 |
| Tongue Neoplasms |
Associate |
36639835 |
| Tooth Mobility |
Associate |
34519438 |
| Uterine Diseases |
Associate |
35575789 |
| Uterine Neoplasms |
Associate |
35575789 |
| Young Simpson syndrome |
Associate |
23395478, 24458743, 25424711, 34519438, 37658610, 38178270, 39986017, 40441421 |
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