Q9HAF1
PR
Gene name |
MEAF6 |
Protein name |
Chromatin modification-related protein MEAF6 |
Names |
MYST/Esa1-associated factor 6, Esa1-associated factor 6 homolog, Protein EAF6 homolog, hEAF6, Sarcoma antigen NY-SAR-91 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64769 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9HAF1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HAF1-F1 | Predicted | AlphaFoldDB |
106 variants for Q9HAF1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA771174 rs773438891 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA771172 rs748433887 |
3 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA771173 rs770091373 |
3 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447443419 CA339435629 |
4 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339435624 rs1264365389 |
4 | H>Q | No |
ClinGen TOPMed |
|
|
rs1447443419 CA339435630 |
4 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339435620 rs1248641216 |
5 | N>D | No |
ClinGen gnomAD |
|
|
rs1402120901 CA339435607 |
5 | N>K | No |
ClinGen gnomAD |
|
|
CA771171 rs779682838 |
6 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1465191726 CA339435596 |
6 | K>R | No |
ClinGen gnomAD |
|
|
rs1377897041 CA339435587 |
7 | A>T | No |
ClinGen gnomAD |
|
|
CA339435578 rs1177571169 |
7 | A>V | No |
ClinGen gnomAD |
|
|
CA20794553 rs534470375 COSM293759 |
8 | A>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs534470375 CA771168 |
8 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376275408 CA771167 |
8 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20794544 rs763619726 |
9 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA339435543 rs1240359937 |
9 | P>L | No |
ClinGen gnomAD |
|
|
CA771164 rs763619726 |
9 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA771162 rs752440894 |
10 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767757468 CA771161 |
13 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA20794530 rs911473839 |
13 | P>R | No |
ClinGen Ensembl |
|
|
rs774859297 CA771159 |
15 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763575693 CA771158 |
16 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs770034921 CA771155 |
18 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 20 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425332534 CA339435221 |
26 | K>Q | No |
ClinGen TOPMed |
|
|
rs1359303490 CA339435126 |
30 | A>V | No |
ClinGen gnomAD |
|
|
rs986405272 CA20793956 |
32 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs867588698 CA20793936 |
38 | R>Q | No |
ClinGen Ensembl |
|
|
rs1221552737 CA339434607 |
39 | Q>H | No |
ClinGen TOPMed |
|
|
rs1569993737 CA339434601 |
40 | I>V | No |
ClinGen Ensembl |
|
|
CA339434580 rs1478813222 |
41 | Y>C | No |
ClinGen TOPMed |
|
|
CA339434535 rs1175048921 |
46 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 52 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 63 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339434239 rs1569993629 |
64 | Y>D | No |
ClinGen Ensembl |
|
|
CA339432396 rs1306489236 |
71 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200745541 CA771105 |
72 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200745541 CA339432379 |
72 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1052312674 CA20793124 |
73 | S>N | No |
ClinGen Ensembl |
|
|
CA339432251 rs541032998 |
77 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA20793122 rs868263057 |
77 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1462066007 CA339432213 |
78 | R>M | No |
ClinGen Ensembl |
|
|
rs966763063 COSM1321107 CA20793117 |
80 | R>W | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA339432043 rs1226803264 |
87 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 88 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557612179 CA339432036 |
88 | L>V | No |
ClinGen Ensembl |
|
|
rs201562638 CA20793114 |
91 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1205187979 CA339431952 |
92 | S>T | No |
ClinGen TOPMed |
|
|
CA771101 rs754346472 |
93 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA771100 COSM382743 rs764216013 |
93 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA339431853 rs1418999597 |
96 | S>* | No |
ClinGen gnomAD |
|
|
rs760714311 CA771070 |
103 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs745516701 CA771067 |
106 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA771068 rs771751334 |
106 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA339431574 rs1248704089 |
107 | Q>H | No |
ClinGen TOPMed |
|
|
CA339431547 rs1160045530 |
109 | Q>R | No |
ClinGen TOPMed |
|
|
CA339431538 rs1341144660 |
111 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1465790941 CA339429797 |
120 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs944551919 CA20790983 |
124 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 128 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA771045 rs773534300 |
129 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339429640 rs1455982912 |
130 | N>H | No |
ClinGen gnomAD |
|
|
CA771044 rs200752489 |
130 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359076482 CA339429629 |
131 | Q>H | No |
ClinGen gnomAD |
|
|
rs1198473118 CA339429632 |
131 | Q>P | No |
ClinGen gnomAD |
|
|
rs1198473118 CA339429631 |
131 | Q>R | No |
ClinGen gnomAD |
|
|
rs748640607 CA771043 |
132 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs747004013 CA771041 |
134 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1311621573 CA339429604 |
135 | P>A | No |
ClinGen gnomAD |
|
|
rs780206755 CA771039 |
135 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339429598 rs1244448179 |
136 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1162987797 CA339429567 |
137 | Q>H | No |
ClinGen TOPMed |
|
|
CA339429570 rs1473698890 |
137 | Q>L | No |
ClinGen TOPMed |
|
|
rs937374420 CA20790963 |
138 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 139 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA771037 rs750718172 |
142 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339103008 CA339429473 |
143 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA20790957 rs927268780 |
144 | D>G | No |
ClinGen Ensembl |
|
|
CA339429435 rs1308229161 |
146 | S>F | No |
ClinGen gnomAD |
|
|
rs777692525 CA771036 |
149 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA339429400 rs1290405491 |
149 | G>R | No |
ClinGen gnomAD |
|
|
rs752541835 CA771034 |
150 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs372319736 CA771033 |
153 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs565709005 CA771032 |
157 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750991653 CA771031 |
158 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs762490162 CA771030 |
159 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA771028 rs772907400 |
159 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762490162 CA771029 |
159 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770139067 CA771027 |
161 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs762099363 CA771026 |
163 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA339429250 rs1483066272 |
164 | H>P | No |
ClinGen gnomAD |
|
|
rs769090800 CA771024 |
165 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs747517798 CA771023 |
166 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA771022 rs775460478 |
166 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA339429132 rs1310336783 |
171 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779349166 CA771018 |
173 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs757543674 CA771017 |
175 | N>T | No |
ClinGen ExAC |
|
|
CA20790915 rs889481618 |
176 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs766709984 CA770979 |
179 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339428686 rs1464742903 |
181 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA770978 rs746878409 |
186 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199928363 CA20789164 |
187 | P>T | No |
ClinGen 1000Genomes |
|
| TCGA novel | 187 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984530277 CA20789161 |
188 | R>Q | No |
ClinGen TOPMed |
1 associated diseases with Q9HAF1
Without disease ID
No regional properties for Q9HAF1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9HAF1 | |||
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| histone acetyltransferase complex | A protein complex that possesses histone acetyltransferase activity. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| MOZ/MORF histone acetyltransferase complex | A histone acetyltransferase complex that has histone H3 acetyltransferase and coactivator activities. Subunits of the human complex include MYST3/MOZ, MYST4/MORF, ING5, EAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. |
| NuA4 histone acetyltransferase complex | A complex having histone acetylase activity on chromatin, as well as ATPase, DNA helicase and structural DNA binding activities. The complex is thought to be involved in double-strand DNA break repair. Subunits of the human complex include HTATIP/TIP60, TRRAP, RUVBL1, BUVBL2, beta-actin and BAF53/ACTL6A. In yeast, the complex has 13 subunits, including the catalytic subunit Esa1 (homologous to human Tip60). |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleosome | A complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| histone acetylation | The modification of a histone by the addition of an acetyl group. |
| histone H2A acetylation | The modification of histone H2A by the addition of an acetyl group. |
| histone H3-K14 acetylation | The modification of histone H3 by the addition of an acetyl group to a lysine residue at position 14 of the histone. |
| histone H4 acetylation | The modification of histone H4 by the addition of an acetyl group. |
| histone H4-K12 acetylation | The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 12 of the histone. |
| histone H4-K5 acetylation | The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 5 of the histone. |
| histone H4-K8 acetylation | The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 8 of the histone. |
| histone modification | The covalent alteration of one or more amino acid residues within a histone protein. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of double-strand break repair via homologous recombination | Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| regulation of developmental process | Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). |
| regulation of DNA biosynthetic process | Any process that modulates the frequency, rate or extent of DNA biosynthetic process. |
| regulation of DNA replication | Any process that modulates the frequency, rate or extent of DNA replication. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of double-strand break repair | Any process that modulates the frequency, rate or extent of double-strand break repair. |
| regulation of hemopoiesis | Any process that modulates the frequency, rate or extent of hemopoiesis. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAMHNKAAPP | QIPDTRRELA | ELVKRKQELA | ETLANLERQI | YAFEGSYLED | TQMYGNIIRG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WDRYLTNQKN | SNSKNDRRNR | KFKEAERLFS | KSSVTSAAAV | SALAGVQDQL | IEKREPGSGT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ESDTSPDFHN | QENEPSQEDP | EDLDGSVQGV | KPQKAASSTS | SGSHHSSHKK | RKNKNRHRID |
| 190 | |||||
| LKLNKKPRAD | Y |