Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

25-296 (Catalytic core domain)

Relief mechanism

Others

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q8R104

Entry ID Method Resolution Chain Position Source
AF-Q8R104-F1 Predicted AlphaFoldDB

No variants for Q8R104

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q8R104

1 associated diseases with Q8R104

[MIM: 224690]: Meier-Gorlin syndrome 1 (MGORS1)

A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q8R104

Type Name Position InterPro Accession
domain Sirtuin family, catalytic core domain 118 - 380 IPR026590

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

8 GO annotations of molecular function

Name Definition
enzyme binding Binding to an enzyme, a protein with catalytic activity.
NAD+ binding Binding to the oxidized form, NAD, of nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions.
NAD-dependent histone deacetylase activity Catalysis of the reaction
NAD-dependent protein deacetylase activity Catalysis of the removal of one or more acetyl groups from a protein, requiring NAD.
protein lysine deacetylase activity Catalysis of the reaction
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
transferase activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2.
zinc ion binding Binding to a zinc ion (Zn).

9 GO annotations of biological process

Name Definition
aerobic respiration The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor.
negative regulation of ERK1 and ERK2 cascade Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of peptidyl-lysine acetylation Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-lysine acetylation.
negative regulation of reactive oxygen species metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species metabolic process.
peptidyl-lysine deacetylation The removal of an acetyl group from an acetylated lysine residue in a peptide or protein.
positive regulation of ceramide biosynthetic process Any process that activates or increases the frequency, rate or extent of ceramide biosynthetic process.
positive regulation of insulin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of insulin.
positive regulation of mitochondrial transcription Any process that activates or increases the frequency, rate or extent of transcription occuring in the mitochondrion.
protein deacetylation The removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic acid.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9I7I7 Sirt2 NAD-dependent protein deacetylase Sirt2 Drosophila melanogaster (Fruit fly) SS
Q8IXJ6 SIRT2 NAD-dependent protein deacetylase sirtuin-2 Homo sapiens (Human) EV
Q9NTG7 SIRT3 NAD-dependent protein deacetylase sirtuin-3, mitochondrial Homo sapiens (Human) SS
Q8VDQ8 Sirt2 NAD-dependent protein deacetylase sirtuin-2 Mus musculus (Mouse) SS
Q923E4 Sirt1 NAD-dependent protein deacetylase sirtuin-1 Mus musculus (Mouse) PR
Q5RJQ4 Sirt2 NAD-dependent protein deacetylase sirtuin-2 Rattus norvegicus (Rat) PR
Q7ZVK3 sirt2 NAD-dependent protein deacetylase sirtuin-2 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MAHYPTRLKT RKTYSWVGRP LLDRKLHYQT YREMCVKTEG CSTEIHIQIG QFVLIEGDDD
70 80 90 100 110 120
ENPYVAKLLE LFEDDSDPPP KKRARVQWFV RFCEVPACKR HLLGRKPGAQ EIFWYDYPAC
130 140 150 160 170 180
DSNINAETII GLVRVIPLAP KDVVPTNLKN EKTLFVKLSW NEKKFRPLSS ELFAELNKPQ
190 200 210 220 230 240
ESAAKCQKPV RAKSKSAESP SWTPAEHVAK RIESRHSASK SRQTPTHPLT PRARKRLELG
250 260 270 280 290 300
NLGNPQMSQQ TSCASLDSPG RIKRKVAFSE ITSPSKRSQP DKLQTLSPAL KAPEKTRETG
310 320 330 340 350 360
LSYTEDDKKA SPEHRIILRT RIAASKTIDI REERTLTPIS GGQRSSVVPS VILKPENIKK
370 380 390 400 410 420
RDAKEAKAQN EATSTPHRIR RKSSVLTMNR IRQQLRFLGN SKSDQEEKEI LPAAEISDSS
430 440 450 460 470 480
SDEEEASTPP LPRRAPRTVS RNLRSSLKSS LHTLTKVPKK SLKPRTPRCA APQIRSRSLA
490 500 510 520 530 540
AQEPASVLEE ARLRLHVSAV PESLPCREQE FQDIYNFVES KLLDHTGGCM YISGVPGTGK
550 560 570 580 590 600
TATVHEVIRC LQQAAQANDV PPFQYIEVNG MKLTEPHQVY VQILQKLTGQ KATANHAAEL
610 620 630 640 650 660
LAKQFCTRGS PQETTVLLVD ELDLLWTHKQ DIMYNLFDWP THKEARLVVL AIANTMDLPE
670 680 690 700 710 720
RIMMNRVSSR LGLTRMCFQP YTYSQLQQIL RSRLKHLKAF EDDAIQLVAR KVAALSGDAR
730 740 750 760 770 780
RCLDICRRAT EICEFSQQKP DSPGLVTIAH SMEAVDEMFS SSYITAIKNS SVLEQSFLRA
790 800 810 820 830 840
ILAEFRRSGL EEATFQQIYS QHVALCRMEG LPYPTMSETM AVCSHLGSCR LLLVEPSRND
850 860
LLLRVRLNVS QDDVLYALKD E